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228 Cards in this Set

  • Front
  • Back

Sickle cell mutation?

Glutamic acid --> Valine
Which drug(s) can cause aplastic anemia?

Which drug causes folic acid deficiency?

What causes pernicious anemia?
Chloramphenicol and acetazolamide (recall aplastic = bone marrow not producing cells)

Methotrexate

Pernicious anema is caused by lack of gastric parietal cells to produce INTRINSIC FACTOR, which is necessary for Vitamin B12 absorption.
T/F: leukemias tend to form masses/nodules, while lymphomas do not.
F (the other way around)

Hodgkin's lymphoma is a cancer of the lymphocytes and is characterized histologically by REED-STERNBERG CELLS. Hodgkin's lymphoma is associated with EBV.

Non-Hodgkin's lymphoma includes any other lymphoma that occurs in the absence of Reed-Sternberg cells.
What are the characteristic ocular & systemic features of Down's? (10)
1. mental retardation
2. flat facial profile
3. prominent epicanthal folds
4. congenital cataracts
5. glaucoma
6. strabismus
7. simian crease (one palmar crease instead of two)
8. congenital heart disease
9. early-onset Alzheimer's
10. keratoconus
Ocular features of Down's patients?
1. epichanthal folds
2. congenital cataracts
3. strabismus
4. high myopia + astigmatism
5. glaucoma
6. risk for keratoconus
Physical characteristics of Edward's syndrome patients?
Edward's is trisomy 18

Severe mental retardation
"Rocker bottom" feet
Low-set ears
Congenital heart disease
Microphthalmos
The most common cause of primary amenorrhea is ?
Turner's syndrome

Absence of an X chromosome, resulting in short stature, dysgenesis, webbing of the neck, coarctation of the aorta

Turner's is the only sex-chromosome aneuploidy w/ established OCULAR findings!
25% +
-strabismus
-amblyopia
-reduced accommodation
-CI
Autosomal-dominant disorders usually present when?

Autosomal-recessive disorders present when?
After puberty.

Include....
-Neurofibromatosis
-Marfan's
-Huntington's
-Familial adenomatous polyposis

A-recessive disorders present in childhood. They include:
-Sickle cell
-Thalassemia
-Cystic fibrosis
-Phenylketonuria (PKU)
-Albinism
-Homocysteinuria
-Wilson's disease
-Chronic granulomatous disease
-etc etc
Classic ocular triad in neurofibromatosis?
Lisch nodules
Cafe au lait spots
Neurofibromas
What is the incidence of colon cancer in patients w/ familial adenomatous polyposis (FAP)?
100%

Deletion chromosome 5

GARDNER'S SYNDROME is variant characterized by multifocal CHRPE's in the fundus (bear-tracking)
Ocular signs of sickle cell?
-Sea-fan retinopathy
-Angioid streaks
-"Salmon patch" hemorrhages (non-prolif etiology due to wall necrosis)
-"Black sunburst" RPE pigmentation (secondary to retinal vascular occlusions)
*Note that retinal signs may be most prominent peripherally*
-Comma-shaped conjunctival vessels
-Iris neovascularization
-Iris atrophy

*Note that 8% of black Americans are SS carriers
-Venous tortuosity
What is the most common lethal genetic disease among Caucasians?
Cystic fibrosis

Affects most critically the lungs, and also the pancreas, liver, and intestine.

Characterized by abnormal transport of chloride and sodium across epithelium, leading to thick, viscous secretions. Due to mutation of Cl- channel gene.

Chloride sweat test measures [Cl-]

Failure to thrive in infancy may occur due to fat-soluble vitamin deficiency

"Clubbing" of the fingers may be seen in CF.
Phenylketonuria is an autosomal recessive disorder caused by mutations in phenylalanine hydroxylase. This enzyme catalyzes conversion of phenylalanine to _______.
Tyrosine

Failure to Tx = mental retardation
(+) testing during pregnancy indicates a low-phenylalanine diet (found in milk products, meat, chicken, aspartame)
Most common inherited disease leading to mental retardation in boys?
Fragile X Syndrome

Most common inherited disorder leading to mental retardation in general! Most common single-gene mutation etiology of autism

Characterized by enlarged testicles, long face and jaw, large ears, autism

Expansion CGG repeat of FMR1 gene on X chromosome
Name two X-linked muscular dystrophies.
1. Duchenne's muscular dysrophy
2. Becker's muscular dystrophy

-Both caused by dystrophin gene mutations
-Characterized by progressive muscle weakness and breakdown, onset under age 5
-Life expectancy ~25
Ocular findings in osteogenesis imperfecta?
Blue sclera
Keratoconus
Megalocornea

*"Brittle bone disease"
*Patients born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen.
Most common anemia? Due to what? Interesting Sx?
Iron-deficiency

More than 50% anemias fit into this category

Often due to GI blood loss (colon cancer, peptic ulcer disease, etc.)

Patients may have brittle hair & nails, and exhibit pica
Which drugs cause aplastic anemia?

Folic acid deficiency?
Aplastic:
Acetazolamide
Chloramphenicol
Chemo drugs

Folic acid deficiency:
methotrexate
What type of B-cell over-proliferates in multiple myeloma? What type of Ab is over-produced? What systemic maladies result from MM?
Plasma cells (Mature B-cells)
Ig-G

Anemia, hypercalcemia, low platelets, kidney failure

BENCE JONES proteins may be found in urine and contribute to kidney failure
Which lymphoma shows Reed-Sternberg cells (Hodgkins or non-Hodgkins)?

Which is more common?

What viral infection is Hodgkin's associated with?
Reed-Sternberg in Hodgkin's lymphoma

Non-Hodgkin's is more common (60%)

50% Hodgkin's is associated w/ EBV

*Note that Hodgkin's peaks age 15-30 and then again age >50*
Predominant cell type in acute leukemia?

Predominant cell type in chronic leukemia?
Blast cells (immature marrow cells)

Mature bone marrow cells
2 major types of acute leukemia? Chronic leukemia?
Acute myeloblastic leukemia (AML) - middle-aged and over; excess myeloblasts; AUER RODS may be seen w/in cells

Acute lymphoblastic leukemia (ALL) - peak age 2-10 years; excessive lymphoblasts

Chronic myelocytic anemia (CML) - 25-60yo; 90% cases have PHILADELPHIA CHROMOSOME; 3-year survival

Chronic lymphocytic leukemia (CLL) - aged 50+; mostly males; 5-10 year survival
Roth spots are characteristic in what systemic conditions (name 3)?
Diabetes
Leukemia
Endocarditis
_______ is a benign epithelial tumor arising in glands or forming glandular patterns.
Adenoma

Cystadenomas are large, cystic masses in fat and ovaries
_______ are metastatic cancers arising from epithelial cells. _______ are metastatic cancers arising from mesenchymal (CT) cells.
Carcinomas

Sarcomas
The most common primary orbital malignancy is _______________, a CT cancer that results in bone destruction.
Rhabdomyosarcoma
TNM tumor staging
T = size
N = node involvement
M = metastasis
BRCA is a(n) (oncogene/tumor-suppressor gene).
tumor-suppressor gene
Cafe au lait spots are (papules/patches) while warts are (papules/patches).

Psoriasis is an example of a (macule/plaque).
Patches (elevated area >1 cm)

Papules (elevated area <1 cm)

Plaque (elevated rough lesion >1cm)

*Macules are small, flat areas w/ change in color and are <1 cm
A teratoma consists of _____, ______, and _______.
Hair, teeth, bone
The most common cancer of young women?
Malignant melanoma

*Suspicious lesions include ABCDE: asymmetry, border irreg, color difference, large diameter, enlarging
Characteristic appearance of basal cell carcinomas?

Squamous cell carcinomas?
Shiny, "pearly", firm nodule w/ rolled borders. Progression can lead to central ulceration ("rodent ulcer"). BCC does not arise from a precursor lesion. Most common form of skin cancer.

SCC has no characteristic appearance! Can arise from ACTINIC KERATOSIS. 2nd-most common form of skin cancer.
Methotrexate and UVB exposure are treatment options for what skin disorder?
Psoriasis
The KOH test confirms what skin condition?
Tinea corporis (ring worm)
The most common form of hearing loss is _____.

(a) conduction loss
(b) sensory loss
(c) neural deficits
Conduction loss, usu trauma or cerumen impaction

Neural loss = CN 8 damage
Sensory loss = deterioration of cochlea
Weber test and Rinne test are used to determine what?
Etiology of hearing loss - neural vs sensory vs conduction loss
T/F: True vertigo is always associated w/ nystagmus.

Name 2 conditions that cause vertigo
T

Meniere's disease (vertigo, hearing loss, tinnitus)

Benign paroxysmal positional vertigo (BPPV)
80% of salivary gland tumors involve what other gland? Most of these tumors are (benign/malignant).
Parotid
Malignant
Patients complain of what three Sx in temporomandibular disorder (TMJ)?
HA
Jaw pain
Facial pain

*Acute and chronic inflammation secondary to arthritis, trauma, dislocations, developmental anomalies, other factors
Intracranial aneurysms occur most commonly in what part of the Circle of Willis?
Anterior region
Spontaneous intracerebral hemorrhage occurs most commonly in what three areas?
Pons, thalamus, basal ganglia
What type of HA usually wakes patients up at night or early in the AM?
Cluster

*Generally 1-2 attacks/day lasting under 1 hour
*30-50 yo men
Which HA often presents w/ red eyes and/or nasal stuffiness that can cause a transient or permanent ipsilateral Horner's?
Cluster

Third-order postganglionic Horner's - involvement of carotid plexus


**What other painful Horner's etiology should come to mind?

Carotid artery dissection
T/F: Photophobia and phonophobia may be present w/ a tension HA.
T

*Tension HA is the most common primary HA (~40%)
Migraine HA's rarely occur after age ____.

T/F: Cluster HA's are usually bilateral.
50

F. Cluster HA's are concentrated around one eye (periorbital area)
T/F: Migraines may last anywhere from 5 min to 1 hour
F

Migraines may last anywhere from 4 to 72 hours
What other systemic condition is associated w/ GCA?
Polymyalgia rheumatica (PMR)

*Fatigue, morning stiffness in hips and shoulders
T/F: Most patients with Bell's Palsy do not recover.
F

Most will recover w/in 1 year (72%)
The most common brain tumor in adults is from metastasis. What is the most common PRIMARY malignant brain tumor?
Glioblastoma multiforme

-Composed of glial cells
-Found in cerebral hemishperes and can cross corpus callosum
Meningiomas are the most common benign brain tumor and the 2nd-most common brain tumor overall. From where do meningiomas arise?
Arachnoid cells
What type of brain tumor may cause an insidious onset of painless, progressive proptosis?
Schwannoma

-Often localized to CN 8 = "acoustic schwannoma"
-Recall Schwann cells produce myelin for the PNS
Which hormone do most pituitary adenomas secrete?

What type of VF defect do pituitary adenomas produce?
Prolactin

Bitemporal heminopias
Guillain-Barre syndrome is characterized by what type of neurological deficit?

What ocular neurological side effects occur?
Ascending muscle weakness that begins in the distal lower extremities.

Adie's and diplopia (from EOM palsies); papilledema

*Associated w/ stress and influenza virus
What cell is disrupted in Tay-Sach's disease, and what
ophthalmic consequence can result?
Ganglion cells

Blindness
Parkinson's causes what Sx? (TRAP)
Tremor at rest
Rigidity
Akinesia (lack of mvt)
Postural instability
Which type of hematoma often involves the middle meningial artery and is characterized by a loss of consciousness, lucidity, and then another loss of consciousness?
Epidural hematoma
Elderly patients on coumadin may suffer what type of hematoma, even with minor trauma?
Subdural hematoma
Petechiae vs purpura vs ecchymoses
All hemorrhages of different sizes

petechiae < purpura < ecchymoses
What is the etiology of shock?
Decreased blood perfusion due to reduction of either cardiac output or circulating blood volume.

-Cardiogenic - e.g. MI
-Hypovolemic - e.g. vomiting
-Septic - e.g. peripheral vasodilation and blood pooling due to disseminated infection
-Anaphylactic - widespread effects of histamine on heart, GI, lungs
What are normal levels for total, HDL, and LDL cholesterols, and triglycerides?
Total - less than 200

HDL - higher than 40

LDL - less than 100

Triglycerides - less than 150
What dosage of aspirin should be given immediately s/p MI?
325mg
CPR compression-breath cycle?
30 compressions and 2 breaths x 1 min
Stages of HTN
Normotensive - under 120/80

Pre-HTN - 120-139 / 80-89

HTN stage 1 - 140-159 / 90-99

HTN stage 2 - 160-179 / 100-119

HTN stage 3 - 180-199 / 120-129

HTN stage 4 - 200+/130+
At which stage of HTN does retinopathy occur? ON edema?
Stage 3 (180-199/120-129)

Stage 4 (200+/130+)
Rheumatic fever results from what type of untreated bacterial infection?
Group A B-hemolytic (Strep pyogenes)

Affects ages 5-15
Heart valve damage
T/F: Right-sided heart failure results in pulmonary edema.
F

L-sided heart failure results in pulmonary edema

R-sided heart failure results in ascites (fluid buildup in the abdomen) and peripheral edema (e.g. legs)
Most common cause of left-sided CHF?

Most common cause of right-sided CHF?
Left-sided heart failure: Ischemic cardiomyopathy due to CAD (MI's), or HTN (left ventricular disease)

Right-sided heart failure: left-sided CHF
In acute kidney failure, GFR is (inc/dec) while creatinine and BUN are (inc/dec).
GFR is decreased

Creatinine and BUN are increased
What are the two most common causes of kidney failure?
Diabetes and HTN
Prostate cancer is the _____-most common cause of cancer death in males.
Second

Lung cancer is #1
What is the most common STD in the US?

T/F: N. gonorrhea infection is symptomatic in 85% of females
Chlamydia infection

F - it is asymptomatic in 85% females
T/F: Patients w/ chlamydia infection are always treated for gonorrhea also
F

other way around (chlamydia is most common)
Pre-eclampsia is characterized by what triad of signs?
BP greater than 140

Protein in the urine

Swelling in lower extremities

*Eclampsia occurs w/ the triad plus seizures
Approximately ____% of breast cancers are genetic (associated w/ BRCA1 or BRCA2)
10%
Alcoholics may develop __________ syndrome, associated with thiamine (vitamin B1) deficiency
Wernicke-Korsakoff syndrome

Confusion, muscle tremor, nystagmus, double vision, eyelid drooping, loss of memory, hallucinations, confabulation
Delirium tremens is a life-threatening alcohol withdrawal that is treated w/ ________
Benzodiazepines
The most severe neural tube defect is _________, resulting in 100% mortality.

T/F: spina bifida exhibits meninges and spinal cord which are not intact
Anencephaly

F - these are intact. failure of posterior vertebral arches to close
Congenital rubella causes what ocular signs?

Congenital syphilis?
Microophthalmia
Glaucoma
Early cataracts

Interstitial keratitis
Infant cataracts should raise suspicion of what 2 conditions?
Rubella
Galactosemia (intolerance & toxicity to galactose intake)
Two main forms of IBD?
Crohn's (infectious etiology)

("Fat old crone skipping down a cobblestone road" - skip lesions (no rectal involvement), cobblestone mucosa)

Ulcerative colitis (autoimmune etiology)
T/F: Ulcerative colitis and not Crohn's results in malabsorption

T/F: Fistula formation is characteristic of Chron's

T/F: non-granulomatous uveitis is found in both Chron's and ulcerative colitis
F (other way around)

T

T
"50 over 50"
50% of people over age 50 will have diverticulosis - intraluminal pressure and focal weakness in colon wall
Irritable bowel syndrome (IBS)
-No apparent cause
-Females > males
-Intermittent abdominal pain relieved or altered by defacation
Wilson's disease may result in what corneal deposition?
Copper - Kayser-Fleischer ring

*copper accumulation leads to liver damage and brain damage (basal ganglia disease)
*PENICILLAMINE is a chelating agent used in Wilson's Tx and has tons of side effects (ocular include ocular myasthenia, pemphigoid, ON'itis)
AST and ALT enzymes are released in higher concentrations by the ______ during times of inflammation, regardless of etiology.
Liver enzymes

E.g. in alcoholic hepatitis
1.Chronic hepatitis develops in 80% of patients w/ Hepatitis (A/B/C).

2. Hepatitis ____ and _____ are spread via fecal/oral route.

3. Hepatitis ____ is carried w/ Hep B in cases of superinfection.
1. Hepatitis C

*There is NO VACCINE for Hep C or for Hep E
*Patients are often on interferon
*Spreads like Hep B (blood, IV drugs, sexual activity)

2. A and E

3. Hep D
Liver changes in cirrhosis
-Fibrosis w/ creation of excess ECM
-Hinders normal blood flow = nutrient/metabolite exchange is reduced
-Liver enlarges and forms nodules, then shrinks
Bilirubin & jaundice
-Liver conjugates bilirubin and excretes into bile
-Conjugated bilirubin --> urobilinogen by bacteria
-Jaundice occurs when liver can't conjugate bilirubin or when urobilinogen can't be excreted
Positive Murphy's sign indicates what?
-Cholecystitis (gall bladder inflammation secondary to obstructive cholesterol stones, sludge, infection)
-Murphy's sign is positive when the patient winces upon inspiration as the examiner places fingers over gallbladder - diaphragm pushes abdominal contents down during inspiration and a swollen gallbladder is painful when it comes into contact w/ examiner's fingers
*Cholecystis occurs in "fat, fertile, females, over age forty"
Acute pancreatitis occurs most often due to what two conditions?

Chronic pancreatitis due to what?
Gallstones or alcohol abuse
(70-80% cases)

Chronic alcohol abuse (90%) - weight loss, steatorrhea (fatty stools), and diabetes also common

*Pancreatitis patients complain of pain near the umbilicus that may radiate to the back
Acute pancreatitis occurs most often due to what two conditions?

Chronic pancreatitis due to what?
Gallstones or alcohol abuse
(70-80% cases)

Chronic alcohol abuse (90%) - weight loss, steatorrhea (fatty stools), and diabetes also common

*Pancreatitis patients complain of pain near the umbilicus that may radiate to the back
Chronic bronchitis vs emphysema?
-Both are types of COPD, most often due to smoking

-Chronic bronchitis = productive cough for 3 consecutive months for 2 or more years due to hypertrophy of mucous-secreting glands in bronchioles; cyanosis of fingers, toes and wheezing

-Emphysema = enlargement of air spaces and decreased recoil due to alveolar wall destruction; shortness of breath, decreased breath sounds, tachycardia
Chronic bronchitis vs emphysema?
-Both are types of COPD, most often due to smoking

-Chronic bronchitis = productive cough for 3 consecutive months for 2 or more years due to hypertrophy of mucous-secreting glands in bronchioles; cyanosis of fingers, toes and wheezing

-Emphysema = enlargement of air spaces and decreased recoil due to alveolar wall destruction; shortness of breath, decreased breath sounds, tachycardia
Interstitial lung disease (including carbon dust-coal worker pneumoconiosis, silicosis, asbestosis) is a (restrictive or obstructive?) lung disease.
Restrictive

*Shortness of breath, decreased lung volume & compliance
*Injury to lung epithelium by toxins causes alveolar inflammation and eventual fibrosis
Interstitial lung disease (including carbon dust-coal worker pneumoconiosis, silicosis, asbestosis) is a (restrictive or obstructive?) lung disease.
Restrictive

*Shortness of breath, decreased lung volume & compliance
*Injury to lung epithelium by toxins causes alveolar inflammation and eventual fibrosis
HLA-DR3 and HLA-DR4 are associated with which type of diabetes?

Severe pancreatic B-cell-destruction occurs in which type of diabetes?
Type 1

Type 2
HLA-DR3 and HLA-DR4 are associated with which type of diabetes?

Severe pancreatic B-cell-destruction occurs in which type of diabetes?
Type 1

Type 2
Impaired glucose as measured by oral glucose tolerance test?
-140-199 mg/dL after two hours (75g oral glucose pill)

-Note that fasting glucose levels may be normal or only slightly elevated
Impaired glucose as measured by oral glucose tolerance test?
-140-199 mg/dL after two hours (75g oral glucose pill)

-Note that fasting glucose levels may be normal or only slightly elevated
When should Type 1 diabetics first have an eye exam? Type 2?
Type 1 - within 5 years of Dx

Type 2 - within first year of Dx
Etiology of diabetes insipidus?

Tx?
-Lack of ADH or deficiency in renal response to ADH
-Extreme thirst, polyuria (excessive urine production)
-Tx options:
*Increased fluid intake, *Intranasal DESMOPRESSIN (related to vasopressin)
*INDOMETHACIN or HCTZ for nephrogenic cause

Seems paradoxical to use diuretic or indomethacin!

*Indomethacin inhibits prostaglandin formation = inhibition ADH action on the kidney
*HCTZ = thiazide diuretic that inhibits H2O resorption at DCT
*These actions decrease plasma volume, thus lowering GFR and enhancing the absorption of sodium and water in the proximal nephron. Less fluid reaches the distal nephron so overall fluid conservation is obtained!
T/F: In hypothyroidism, increased levels of TSH and decreased levels of T3 and T4 are observed

T/F: Males are most commonly affected by Hashimoto's thyroiditis
T

F - recall Hashimoto's is autoimmune-mediated destruction of thyroid gland (10:1 female:male)
1. 85% of hyperthyroid cases are due to _________.


2. What is an uncommon keratoconjunctival finding in patients w/ thyroid disease (Graves)?
1. Graves' disease

*Graves is diffuse thyroid hyperplasia due to increaesd TSH receptor antibodies

2. SLK - presents bilaterally!
Hyperparathyroidism causes marked hyper-________ (levels of what in the blood?). Results in what Sx?
HyperCALCEMIA

Most often due to parathyroid adenoma (less often due to carcinoma)

Sx include bone pain, pathologic fractures, renal stones, constipation, mental changes, fatigue

BONES, STONES, MOANS (psychotic), GROANS (abdominal)
HYPOparathyroidism may show what ocular signs?
Blurry vision, early posterior cataract formation

*this is usu due to thyroidectomy and is short-term; Tx w/ serum calcium
Addison's disease is a deficiency of what?

What is Cushings?
Addison's = adrenal atrophy = deficiency of mineralcorticoids (aldosterone) and glucocorticoids (cortisol)

*Need to ADD more in Addison's*

Cushing's is overproduction of corticosteroids (cortisol and aldosterone) by the adrenals - mostly due to chronically-Rx'd steroid meds
*Cushing's patients show central obesity, "Moon face" and "buffalo hump"
What does a pheochromocytoma secrete?
-NE and epinephrine
-Can be located on one or both adrenals or anywhere along sympathetic nervous chain
-Patients may be mis-diagnosed as having panic disorder
-Can show PAPILLEDEMA
Schizophrenia is due to increased levels of _______ in the mesolimbic region.
Dopamine

*Thus we Tx w/ dopamine-inhibiting antipsychotic meds like thioridizine & chlorpromazine (phenothiazines), haliperidol, RISPERIDONE

**Recall ocular side effects of phenothiazines include decreased accommodation, dry eye, anterior subcapsular (ASC) cataracts, corneal endothelial pigment deposits, and macular pigment changes (retinal pigmentation!!)
Which condition causes a "salt and pepper" fundus?
Syphilis
Most common cause of filamentary keratitis?
Dry eyes

Any condition that causes chronic inflammation! Composed of epithelial cells and mucous. Like skin clumps when you rub hands together.
Which eyedrops can cause corneal toxicity in the form of SPK (besides BAK preservative)?
Aminoglycoside antibiotics
Which conditions can lead to neurotrophic keratitis?
Diabetes, herpes, stroke, CL-overwear, exposure keratitis....
Name 1 systemic disease and 1 deficiency that cause dry eye.

Name 3 medication categories that cause dry eye.
*Collagen-vascular/autoimmune (Sjogren's) and Vitamin A deficiency

*ANTIHISTAMINES, hormone therapies, ACCUTANE, SSRI's
1. Name 5 slit-lamp signs of keratoconus

2. Systemic diseases associated w/ keratoconus? (T-DOME)
1.Thinned cornea
Fleischer ring
Vogt's striae
Hydrops
Munson's sign

2. Turner's syndrome
Down's syndrome
Osteogenesis imperfecta
Marfan's syndrome
Ehler's Danlos syndrome
(T-DOME)
Where are the steepest areas of the cornea in Pellucid Marginal Degeneration (clock-hours)
4 and 8 o'clock positions
Most common corneal ENDOTHELIAL dystrophy?

Most common corneal STROMAL dystrophy?
EBMD is most common endothelial. Also the most common corneal dystrophy overall (by far!)

Granular dystrophy is most common stromal.
Most inherited corneal conditions are autosomal-dominant (e.g. Granular, Reis-Buckler, etc). Which two do not follow this inheritance pattern?
Macular dystrophy - autosomal-recessive

Megalocornea - X-linked
Corneal dystrophies & their depositions:

"Marilyn Monroe Got Harassed in Los Angeles Smoking Crack"
Macular dystrophy - mucopolysaccharides

Granular dystrophy - hyaline

Lattice dystrophy - amyloid

Schnyder's crystalline dystrophy - cholesterol (lipids)
How many endothelial cells are present at birth? Age 70?

Below what number of endothelial cells does corneal edema occur?
~3000 at birth, ~2000 age 70

<500 cells/mm^2 leads to edema
Megalocornea occurs with what diameter?

Microcornea w/ what diameter?
Megalocornea 13+mm

*Note that some forms are autosomal-dominant and some are X-linked
*Some Marfan's patients show megalocornea

Microcornea 10mm and less

*May occur w/ microophthalmos, anterior segment dysgeneses, congenital rubella
Descemet's striae vs Haab's striae vs Vogt's striae?
Haab's striae are horizontal Descemet's striae seen specifically in CONGENITAL GLAUCOMA. Descemet's striae are seen idiopathically or in association w/ conditions like Fuch's, and represent wrinkling of Descemet's. Vogt's striae are seen in keratoconus - stress lines due to stretching and thinning of the cornea
When is posterior embryotoxon considered abnormal?
When associated w/ prominent iris strands, as in Axenfeld's anomaly

Note that ~15% of the population shows PE as a normal variation
Only bacteria that causes conjunctivitis w/ (+) nodes and pseudomembranes?
N. gonorrhea

*This bacteria is also capable of invading intact corneal epithelium
T/F: The presence of SEI's in a case of EKC indicates the infection is no longer contagious

EKC results from what serotypes of adenovirus? PCF?

T/F: the cornea is often involved in PCF
T

EKC = serotypes 8 and 19
PCF = serotypes 3 and 7

F
(Papillae/follicles) contain a central vessel that serves as source for infiltration of eosinophils, mast cells, neutrophils, lymphocytes.

(Papillae/follicles) are avascular nodules concentrated w/ lymphocytes and macrophages.
Papillae

Follicles
Follicles are associated w/ what three antigenic stimuli?

Papillae are nonspecific but commonly associated w/ what two antigenic stimuli
Viral infection
Toxicity
Chlamydia

Allergens
Bacterial infection
Vernal keratoconjunctivitis is a rare condition occuring most commonly in what epidemiologic group?

What limbal finding is commonly associated w/ VKC? What type of corneal ulcer is associated w/ VKC?
Male children & young adults

Tranta's dots (prominent papillae)

Shield ulcer
-Usually located superiorly
-The base of the ulcer is composed of abnormal mucus, fibrin and serum, deposited as a gray plaque
-Friction secondary to the roughened superior conjunctiva erodes the corneal epithelium
VKC occurs during what time of the year?

AKC?

SAC?
VKC - warmer months; anytime in warm climates

AKC - not seasonal

SAC - anytime during the year
What periorbital sign is associated w/ AKC?

T/F: the superior palpebral conj is more involved in AKC than in VKC
Dennie's lines (Dennie-Morgan lines) - horizontal fold in the skin below the eyelid

T
Superior limbic keratoconjunctivitis may occur in what two conditions?
Graves disease

Contact lenses (hypersensitivity reaction, esp thimerosal)

*Note that corneal filaments and a papillary reaction occur w/ SLK in thyroid disease but not in CL-related cases
What is the leading cause of preventable infectious blindness worldwide?

What are Arlt's lines and Herbert's pits?
Trachoma conjunctivitis

Arlt's line - palpebral conj scarring

Herbert's pits - depressions of limbal conj after resolution of limbal follicles
Chlamydia serotypes that cause inclusion conjunctivitis? Trachoma?
Inclusion - D-K

Trachoma - A-C
What is the etiology of ligneous conjunctivitis?
Plasminogen deficiency

Plasminogen is converted to plasmin, which catalyzes the breakdown of fibrin during the wound-healing process and prevents clot formation w/in blood vessels
Parinaud's oculoglandular syndrome
combination of granulomatous conjunctivitis in one eye, and swollen lymph nodes in front of the ear on the same side. Most cases are caused by cat-scratch disease, although it is an unusual feature of this condition.

Do not confuse w/ Parinaud's syndrome, a.k.a Dorsal Midbrain syndrome - seen in:
1.Young patients with brain tumors in the pineal gland or midbrain: pinealoma (intracranial germinomas) are the most common lesion producing this syndrome.
2.Women in their 20s-30s with multiple sclerosis
3.Older patients following stroke of the upper brainstem
T/F: Episcleritis is commonly associated w/ systemic disease and is more commonly unilateral
T

Associated w/ RA & other collagen-vascular disease, acne rosacea, herpes zoster & simplex, syphilis

*Recall can be simple (80%) or nodular (20%)
T/F: most cases of episcleritis are sectoral, and most cases of scleritis are nodular

T/F: Most cases of scleritis are bilateral while most cases of episcleritis are unilateral
T

Nodular scleritis 44%, diffuse scleritis 40%, necrotizing scleritis 14%

T
Necrotizing scleritis w/o inflammation is known as what? What is the most common cause?
Scleromalacia perforans

Typically due to chronic RA
Large "mutton-fat" KP's, Koeppe's nodules, and Busacca nodules all point to what?
Granulomatous anterior uveitis

-KP's are on the endothelium

-Koeppe's nodules are found on the inner (pupillary) margins of the iris and are composed of epithelioid cells and giant cells surroundeded by lymphocytes

-Busacca nodules are similar to Koeppe's nodules but are found away from the pupillary margin
T/F: Cystoid macular edema is a complication of anterior uveitis

What is the general etiology of anterior uveitis?
T

Breakdown in the blood-aqueous barrier.
The following conditions show (acute or chronic?), (non-granulomatous or granulomatous?) anterior uveitis:

Ankylosing spondylitis
Reiter's
IBD
Behcet's
Lyme
Glaucomatocyclitic crisis
Acute, non-granulomatous
The following conditions show (acute or chronic?), (non-granulomatous or granulomatous?) anterior uveitis:

Sarcoid
TB
Herpes simplex, zoster
Syphilis
Chronic, granulomatous
The following conditions show (acute or chronic?), (non-granulomatous or granulomatous?) anterior uveitis:

JRA
Fuch's heterochromic iridocyclitis
Chronic, non-granulomatous
Rifabutin, systemic sulfonamides, and cidofovir can all cause what inflammatory ocular condition?
Anterior uveitis
CMV retinitis in immunocompromised patients must be differentiated from what 2 other conditions?
Toxoplasmosis - more vitritis and less intravitreal hemorrhaing than CMV

Progressive outer retinal necrosis (PORN) - similar vitritis to CMV (less than toxo), less hemorrhage than CMV
How is Thygeson's superficial punctate keratopathy different from superficial punctate keratitis?
Thygeson's is duller and less organized in appearance

-Chronic FB sensation, tearing w/ white, quiet eye
-Unknown etiology (possibly viral)
-Exascerbations and remissions w/ no serious sequelae for 10-20 years, then condition resolves
Normal unanesthetized Schirmer's test is ___mm, while normal anthetized test is _____.

Phenol red thread turn from ____ to _____ (colors) when in contact w/ tears.
15mm

10mm

Red to yellow
Keratoglobus is a diffuse thinning of the cornea and is associated w/ what systemic conditions (3)?
Ehlers-Danlos
Blue sclera
Leber's congenital amaurosis
T/F: The majority of EBMD patients develop corneal erosion.
F
10% of EBMD patients get corneal erosion

50% of corneal erosions are due to EBMD
Recurrent corneal erosion early in life is associated w/ what corneal dystrophies (2)?
1.Reis-Buckler - abnormal development of Bowman's where it's replaced by collagen

2. Macular - most rare but most severe; mucopolysaccharide deposits decrease VA early w/ occasional recurrent erosions
T/F: Recurrent erosion is common in Granular dystophy

T/F: Schynder's dystrophy patients are usually asymptomatic.
F

Granular dystrophy is the most common stromal dystrophy w/ onset in 1st decade, Sx in middle-age

T
What do Hassall-Henle bodies refer to?
Peripheral guttata
Haab's striae appear in the cornea due to what?
Increased IOP, usually from congenital glaucoma

(horizontal striae in Descemet's)
Definitions of:

Axenfeld's anomaly
Rieger's anomaly
Reiger's syndrome
Peter's anomaly
Axenfeld's: posterior embryotoxon + prominent iris strands

Reiger's anomaly: Axenfeld's + displaced pupil and iris atrophy

Peter's: central corneal opacity w/ iris adhesions; 80% BILATERAL; 50% develop secondary glaucoma

Reiger's syndrome: Reiger's anomaly w/ mental retardation and dental, facial, skeletal abnormalitis
Which 4 bacteria can invade intact corneal epithelium?
N. gonorrhea
Haemophilus
Listeria
Corneybacterium diphtheriae
Candida is a (filamentous/non-filamentous) fungus.
Non-filamentous

Aspergillis and Fusarium and filamentous
Which agar should be used to detect acanthamoeba?
Non-nutrient agar w/ E. coli
Disciform keratits occurs in HSV and is characterized by what?
Disc-shaped stromal edema due to ENDOTHELIITIS

May see Wessely ring of infiltrates
T/F: In HZV infection, corneal pseudodendrites stain entirely w/ Rose Bengal.
T

HSV true dendrites only stain w/ RB at the edges
Signs of congenital syphilis (3)
Saddle-nose deformity
Hutchinson's teeth (small, widely-spaced)
Frontal bossing (prominent forehead)
90% of interstitial keratitis is caused by what congenital infection?
Syphilis

IK is stromal inflammation WITHOUT primary involvement of the epithelium or endothelium

Other causes are TB and HSV
Mooren's ulcer occurs in two forms: older adults (more common, benign form) and young black (mostly Nigerian) males (severe form). What is the pathophysiology? What systemic condition is associated?
Vasculitis of limbal blood vessels = ischemic necrosis and peripheral ulcerative keratitis. Associated w/ hepatitis C infection.
Terrien's marginal degeneration occurs most commonly in (males/females).

Salzmann's nodular degeneration occurs most commonly in (males/females)
Males over 40

Females
Band keratopathy is associated w/ what conditions?
Chronic ocular inflammation - JRA, iritis

Gout, hypercalcemia, renal failure
The following are (relative/absolute) contraindications to refractive surgery:

Under age 21
Refractive instability
Keratoconus
CL warpage
Immunosuppression from chronic steroid use
Active HSV keratitis
CT disease
Unrealistic expectations
Absolute
The following are (relative/absolute) contraindications to refractive surgery:

Diabetes
HSV infection
Blepharitis
Dry eye syndrome
Chronic eye rubbing
Ocular surface disease
Glaucoma
Relative
The following are potential complications for which type of refractive surgery?

1.Regression, steroid-induced glaucoma, corneal haze

2. Hyperopic refractive shift, perforation, diurnal fluctuation
PRK

RK
Which type of cataract can induce a hyperopic shift?
Cortical
The most common type of congenital cataract? Due to what?
Lamellar (zonular)

Congenital rubella or galactosemia
What is Vossius' ring?
Iris pigment on the anterior lens capsule, usu due to trauma
What type of cataract do the following meds cause?

Chlorpromazine
Amiodarone
Miotics
Gold salts
Corticosteroids
Chlorpromazine - stellate

Amiodarone - lens deposits

Miotis - lens vacuoles

Gold salts - gold deposits

Corticosteroids - PSC
T/F: chronic anterior uveitis can lead to early cataract formation
T

Also high myopia, RP, gyrate atrophy

*Gyrate atrophy is characterized by night blindness, myopia, and multiple round islands of peripheral chorioretinal degeneration which often appear in the first decade of life
Most common reason for lens subluxation? Which systemic conditions can lead to subluxation?
Trauma

Marfan's, Ehlers-Danlos, Weill-Marchesani syndrome, homocystinuria

*Note that Ehlers-Danlos has same ocular effects as osteogenesis imperfecta, but additionally may show lens subluxation (unlike OI)
*The most worrisome complication w/ Marfan's is RD
Synchysis scintillans
Rare unilateral golden-brown refractile cholesterol crystals in the vitreous. Freely-movable and often settle inferiorly. Occurs after chronic uveitis, vitreous heme, and/or trauma
"4-2-1" rule for DR?
A patient has severe NPDR if:

Severe retinal hemes in 4 quads
Venous beading in 2 quads
Irma in 1 quad
Tx for proliferative diabetic retinopathy is held until it has high-risk characteristics. What are these?
1. NVD > 1/4DD
2. Any NVD or NVE w/ a vitreous or pre-retinal heme
CSME definitions
1. Retinal thickening at or w/in 500uM (1/3DD) of foveal center
2. Hard exudate w/in 500uM of foveal center, w/ adjacent thickening
3. Retinal thickening of at least 1DD, within 1DD of fovea
FSH, CWS, hard exudates begin at which stage of hypertension?

Papilledema and macular star at which stage?
Stage 3

Stage 4
Marked exudates, intraretinal hemorrhage, exudative RD, neovascular glaucoma, and telangiectatic, dilated vessels w/ a "lightbulb" appearance describe what condition?
Coats disease

Idiopathic peripheral vascular disease occurring in young males (2/3 prior to age 10)

Can simulate retinoblastoma w/ rapid progression in kids under age 4 - also shows leukocoria
T/F: Histoplasmosis is common in black patients

What is the earliest Sx of histo?

Clinical triad of signs?
F

Metamorphopsia. No Sx until macula is involved

1. Peripapillary atrophy
2. Histo spots
3. Maculopathy
Average axial length of the eye?

High myopia (>6-8D) and axial lengths greater than what put patients at risk for posterior staphyloma, Fuchs' spots, laquer cracks, macular holes, PSC and NS?
24mm

26-27mm

*1mm = 3D power
Pathophysiology of epiretinal membrane?

Causes?
Breaks in ILM allow glial cells from the retina to accumulate on the ILM - traction of these cells on the ILM leads to wrinkling.

Causes include PVD, retinal break, cataract surgery, trauma, idiopathic
T/F: women are more-commonly affected by macular holes and ERM

Most common cause of macular hole?
T

Most cases are IDIOPATHIC (senile). Can develop after trauma (10%), surgery, CME, inflammation
Normal recovery time in the macular photostress test is less than ____.
60 sec

Patient looks at light positioned 2-cm away for 10 sec. Measure time it takes to read one line above BCVA
What systemic condition is most-often associated w/ RP?

Classic RP triad?
Usher's syndrome

RP is the most common retinal dystrophy

1. Bone-spicule pigmentation
2. Arteriolar attenuation
3. Waxy optic disc pallor
Most common inherited macular dystrophy?
Stargardt's

Decreased VA often out-of-proportion to retinal appearance in early stages. Bilateral yellow specs, "beaten bronze" macula, "salt and pepper" periphery

*Fundus flavimaculatus is considered a variant of the same disorder - reserved for patients w/o macular dystrophy signs
Choroideremia
X-linked recessive disorder showing progressive, bilateral diffuse atrophy of the RPE and choriocapillaris.

Due to Rab geranyl-geranyl transferase deficiency

Onset 1st decade but usu good VA until 50's or 60's; night blindness
DDx for bull's eye maculopathy?
Stargardt's
CRAO
Progressive cone dystrophy
Chloroquine/hydrochloroquine toxicity
Thioridazine toxicity
Retinoschisis results from splitting of the ________ layer.
Outer plexiform
Most common cause of angioid streaks?
Pseudoxanthoma elasticum

Also due to: PEPSI
Paget's
Ehlers-Danlos
Sickle cell anemia
Idiopathic

*Note that 70% of patients w/ angioid streaks will eventually suffer some kind of vision loss
Port-wine stains are associated w/ what ocular condition?
Glaucoma (ipsilateral) in 45% of cases

Rarely associated w/ Sturge-Weber syndrome (congenital nervous system disorder - seizures, muscle weakness, learning disabilities)
Sampolesi's line
Increased pigmentation anterior to Schwalbe's line

Associated w/ PXS and PDG
Etiology of pigmentary dispersion glaucoma? Epidemiology?
Increased anterior chamber pressure leads to excessive bowing and the iris and zonular rubbing of pigment

Bilateral in young Caucasians; mostly myopic males

50% develop pigmentary glaucoma

May see KRUKENBERG's SPINDLE
Splinter (drance) hemes are most common in which type of glaucoma?
Normal tension
How do VF defects in NTG compare to those in POAG?
NTG shows denser, more focal defects that are closer to fixation since temporal and inferotemporal rim tissue is more commonly affected first
Glaucomflecken
Anterior subcapsular opacities resulting from lens epithelial cell ischemia and necrosis secondary to high IOP
What is the most common etiology of neovascular glaucoma? Second-most?
1. CRVO

2. DM

Less-commonly, carotid A disease and CRAO
Acute trabeculitis is known as _____.
Glaucomatocyclitic crisis (a.k.a. Posner-Schlossman syndrome).

High IOP but normal gonio
Name 3 conditions affecting ocular mucous membranes.
1. Behcet's
2. Pemphigoid
3. SJS
What is ankyloblepharon?
Eyelids become fused, e.g. in SJS
What is the function of the glands of Zeis? Moll?
Zeis = eyelash lubrication

Moll = sweat gland
What is the most common eyelid cancer? Second-most common?
Basal cell carcinoma

Squamous cell carcinoma

*Recall that sq cell carcinoma is hyperplasia of the spinosum layer
Most common etiology of phlyctenulosis?
Staph blepharitis - Type IV reaction

Also seen in TB
T/F: pediculosis causes (+) PAN
T
What epidemiologic groups are associated w/ Behcet's?
Asians and Middle Easterners
Which test indicates acute syphilis? Which test indicates exposure to syphilis?
RPR = acute ("Right now")

FTA-Abs = chronic ("Forever")
"Candle wax droppings" and "cotton-ball opacities" are found in what disease?
Sarcoid

Candle wax = yellow-white exudates due to VASCULITIS

Cotton ball = inferior fluffy white lesions due to VITRITIS
What type of glands does ocular rosacea affect?
Meibomian SEBACEOUS glands (also affected in the skin)
T/F: Bowman's layer is left intact in the LASIK procedure but not in PRK.
T

Advantages of LASIK:
1. Faster healing
2. Less pain
3. Intact Bowman's = less haze
CME after cataract surgery is known as what?
Irving Gass syndrome
Most common presenting Sx in OIS?
Gradual loss of vision

Also....amaurosis fugax, ocular pain
Most common nasolacrimal condition?
Nasolacrimal duct obstruction

Infants - congenital membrane
Adults - involutional stenosis
T/F: In ICCE, the lens capsule is removed.
T

ICCE - lens and capsule removed (old procedure "ice age")

ECCE - capsule remains
How is the flap made in LASIK? E-LASIK/LASEK? Intralase?
LASIK = microkeratome

LASEK = dilute alcohol

Intralase = femtosecond laser
Normal Hertel exophthalmometry findings?
12-22mm

Black patients - 12-24
Asians - 12-18

Abnormal if >3 difference btwn the eyes or if higher than above norms
What fetal structure creates an epicapsualar star? Mittendorf's dot and Bergmeister's papilla?
Epicapsular star = anterior lens = tunica vasculosa lentis

Mittendorf's & Bergmeister's = posterior lens & ON = hyaloid artery
Hutchinson's teeth, saddle-nose bridge, and deafness are signs of what congenital infection?
Syphilis

Expect to see INTERSTITIAL KERATITIS and a SALT-AND-PEPPER FUNDUS also
Which fungus is most associated w/ fungal ulcer?
Candida
A ring ulcer is hallmark for what infection?
Acanthamoeba
What does Giemsa stain reveal in HSV culture?
Multinucleated giant cells
How thick is a LASIK flap generally made?

How many uM per D are removed during LASIK?
160-200uM

12-15uM/D
Name 3 systemic conditions associated w/ early cataracts.
1. Myotonic dystrophy
2. Atopic dermatitis
3. Diabetes

"MAD"
Which direction does the lens generally subluxate in Marfans? Homocystinuria?
Superiorly and temporally

Inferiorly

*Note that homocystinuria presents w/ similar phenotype as Marfan's (e.g. tall stature) but patients are mentally slow and have stiff joints
What are Elschnig pearls?
Proliferative lens epithelial cells that migrate to the posterior capsule s/p cataract surgery
Most common direction of lens subluxation in Marfan's? Homocystinuria?
Marfans = superior & temporal

Homocystinuria = inferior

*Note that homocystinuria appears similar to Marfan's (e.g. tall stature) but patient's have below-normal intelligence and stiff joints
What are asteroid hyaloses composed of? Synchysis scintillians?
Calcium phosphate soaps

Cholesterol crystals
What are lacquer cracks?
Breaks in Bruch's membrane, associated w/ high myopia
Positive Watzke-Allten sign indicates what?
Full-thickness macular hole
Most common quadrant for retinoschisis?
Inferior temporal