3Rdyearpostseghereditarydisorder

Front 1

______________: Multiple deep, yellow lesions on Bruch’s membrane & RPE. Causes congenital stationary night blindness, with otherwise normal visual function. Usually born with, and does not get better as pt age.
Suspected autosomal recessive inheritance.

Back 1

Fleck Retina Syndromes

Front 2

ERG findings of Fleck Retina of Kandori


EOG findings?

Back 2

Delayed, but eventually normal (after about 3 hours) dark adaptation thresholds and scotopic ERG amplitudes once the patient is dark-adapted for sufficient amount of time



EOG NORMAL!!

Front 3

Fleck Retina of Kandori lesion

Back 3

White, cloud-like lesions at the level of the pigmented epithelium extending from macula out to equator.

Front 4

What is the prognostic significance of a diagnosis of fundus albipunctatus vs. retinitis punctata albescens?

Back 4

Answer: Fundus albipunctatus is a form of congenital stationary night blindness and would not be expected to produce progressive visual loss. Retinitis punctata albescens acts clinically like retinitis pigmentosa and results in progressive visual field loss, night-blindness, and retinal vascular attenuation.

Front 5

______________:Discrete uniform white dot-like lesions, most in mid-periphery of both eyes.
Autosomal recessive.. Onset first to second decade (early onset). Congential, stationary condition that does not get better throughout life.
Complaints of nyctalopia (night blindness).

Back 5

. Fundus Albipunctatus (subtype)
Form of congenital stationary night blindness in which patients are night-blind for life.

Front 6

Fundus Albipunctatus (subtype)
Fundus findings:

Back 6

a. Discrete uniform white dot-like lesions, most in mid-periphery of both eyes.
b. Can be stationary, can increase, or can regress.
c. Normal caliber retinal vessels, and macula appears normal
1) DDx: Compare to RP, which has narrowed vessels.

Front 7

Fundus Albipunctatus EOG and ERG findings

Back 7

vi. ERG:
a. Normal in some.
b. Reduced scotopic ERG response is typical. If you let the patient dark-adapt for several hours, the scotopic ERG will be normal.
c. Regeneration of scotopic ERG waveform with prolonged dark adaptation in 1 to 12 hours.
vii. EOG: normal or abnormal (parallels ERG findings).


viii. Visual fields: normal.

Front 8

____________:
Exactly like Retinitis pigmentosa with white flecks.
ii. Unlike fundus albipunctatus, this condition is progressive. This is not a stationary disease.

Back 8

2. Retinitis Punctata Albescens (subtype)

Front 9

T/F Fundus albipunctatus is a PROGRESSIVE disease

Back 9

FALSE, stationary

Front 10

T/F Reinitis Punctata Albescens is a PROGRESSIVE dsease

Back 10

T

Front 11

_________________: Same disease due to the fact that you tend to get both conditions in the same eye)
One of the most commonly seen inherited macular dystrophies.

Back 11

Fundus Flavimaculatus and Stargardt’s disease (Fundus flavimaculatus: white “flecked retina”; Stargardt’s: “macular lesion”

Front 12

Fundus Flavimaculatus and Stargardt’s disease have what type of hereditary pattern?

Back 12

autosomal recessive (90%)

Front 13

Onset of Fundus Flavimaculatus and Stargardt’s disease

Back 13

Onset somewhere between ages 6-20, although visual impairment may not be apparent until as late as ages 30 to 40. VA decrease will precede any changes noted at the macula!

Front 14

VA typical of Fundus Flavimaculatus and Stargardt’s disease

Back 14

Asymptomatic if no macular lesion.
Decreased central vision in patient with previously normal vision

NOTE: Visual loss frequently precedes macular findings!!!!


iii. Moderate color vision defect.

Front 15

Fundus Flavimaculatus and Stargardt’s disease Fundus appearance

Back 15

ii. Unique, peculiarly shaped, angulated, linear yellow-white flecks(pisciform, “fish-tail”) within posterior pole and mid-periphery (called fundus flavimaculatus when present without a macular lesion)
a. With time the yellow color fades, and is replaced by pigmentation surrounded by whitish halos, or “salt and pepper” pigmentary changes (stippling).
iii. “Beaten metal” ovoid patch in macula (Stargardt's disease)- looks like a black eye:

Front 16

What disease is this?

Back 16

“Beaten metal” ovoid patch in macula (Stargardt's disease)- looks like a black eye:

Front 17

Presence of mid-peripheral flecks, especially early in life, carries a poorer visual prognosis for patients with __________ (vs. when the disease is limited to the macula).
Diagnosis is made by bilateral symmetric macular lesions centrally with surrounding flecks.
DDx: If this is seen in a 70 year old, consider age related macular degeneration. But for this picture in a young patient, think of ____________________-

Back 17

Stargardt’s disease


fundus flavimaculatus and Stargardt’s disease.

Front 18

FA of ______________________:iv. May have "dark (silent) choroid" (as a result of excessive lipofuscin filling up RPE cells to give it a plush orange carpet appearance).
No choroidal fundus glow, because the RPE is infiltrated by lipofuscin that blocks the choroid.

Back 18

Stargardt's or fundus flavimaculatus

Front 19

_________________________: Perhaps one of the most common hereditary disorders.Autosomal dominant with variable penetrance.Onset second to fourth decade

Back 19

Familial drusen (Hutchinson-Tay choroiditis, Holthouse-Batten superficial chorioretinitis, Doyne's honeycomb dystrophy, malattia leventinese, Dominant Hereditary Drusen)

.

Front 20

___________ pts: These patients are fine for most of their lives, unless they develop a disciform lesion
Disciform lesion may develop later in life due to choroidal neovascularization, or earlier due to fluid that develops under macula.
4. Asymptomatic unless disciform detachment (disciform: fluid present under the macula causing elevation; usually not associated with CNV

Back 20

Familial Drusen

Front 21

In Familial drusen, a ______________ may develop later in life due to choroidal neovascularization, or earlier due to fluid that develops under macula.

Back 21

Disciform lesion

Front 22

FA of Familial drusen

Back 22

6. Fluorescein angiography:
i. Transmit or block early, with eventual stain (“starry sky” angiogram).

DDx: Drusen do not leak.

Front 23

Familal drusen symptoms

Back 23

In third or fourth decade patients may notice:

* decreased visual acuity
* metamorphopsia
* paracentral scotoma

Front 24

What color defect is associated with familial drusen?

Back 24

Color vision testing: mild tritan defect.

Front 25

Benign Familial Fleck Retina is an autosomal __________ disorder characterized by ______________. Pt is usually asymptomatic and will have _______ visual function. Fluorescein angiography reveals irregular __________________ suggesting a diffuse abnormality of the _________

Back 25

A. Autosomal recessive disorder B.diffuse white-yellow (larger and more uniform) flecks throughout the fundus with relative sparing of the macula.
C.Asymptomatic, and have normal visual function.
D. hyperfluorescence that does not correspond with the distribution of flecks, suggesting a diffuse abnormality of the RPE.

Front 26

________________: Onset in first decade in most:
Occasionally not diagnosed until much later.
Fundus findings precede visual loss Very dramatic fundus changes!

Back 26

Best Disease/Vitelliform Dystrophy

Front 27

DDx Stargardts vs, Best disease

Back 27

In Best Disease, Onset in first decade in most, though might not be diagnosed until much later.
becauseFundus findings PRECEDES visual loss
a. DDx: Opposite of Stargardts which has VA loss before you ever see anything in fundus!

Front 28

Is Best's Disease
1, Bilateral?
2. Symetrical?

Back 28

Fundus findings
Usually bilateral, symmetrical, and central

Front 29

Previtelliform stage of Best's Disease

Back 29

(no egg yolk seen):
i. Stage 0: Normal fundus with abnormal EOGs.
ii. Stage I: Pigment mottling in macula. Cannot tell what disease can cause mottling without further testing at this point

Front 30

Stage 2 of Best's Disease:

Back 30

Vitelliform stage (classical stage):
Egg-yolk lesion in fovea
a. Single or multiple lesions. Lesions are not always yellow in color.
b. Bilateral and symmetrical.
c. Consistent with 20/20 vision, even with macula appearing to be poor. VA may fluctutate.
d. FA shows marked hypo-flourescence in zone covered by lesion early.
hyperfluorescence later in this stage.

Front 31

____________ stage of Best's Disease involves Orange-tinged discoloration to egg-yolk appearance as it breaks down.
b: Partial resorption of cystic fluid
. "Pseudohypopyon stage".
c: Total resorption of cystic fluid without atrophy of the choriocapillaris. Followed by atrophy of the choriocapillaris; bilateral and symmetrical.

Back 31

Stage III: Vitelleruptive Stage; egg yolk breaks up

Front 32

Stage 4 of Bests Disease

Back 32

7. Stage IV: Scarring stage:
i. Stage IVa: Resorption of the majority of cystic fluid and presence of a fibrotic-appearing scar (“Scrambled egg").
ii. Stage IVb: Stage IVa with choroidal neovascularization and fibrovascular scar or appearance of subretinal hemorrhage.

Front 33

T/f VA DECREASES as Stages of Best's Disease increases

Back 33

T

Front 34

What disease is this:
What stage is this?

Back 34

Classic egg-yolk appearance in the second (vitelliform) stage of vitelliform macular dystrophy

Front 35

Stage 3 of Best's disease involves what?

Back 35

The scrambled egg appearance results from a deterioration of the uniform cystic lesion noted in stage 2 (egg-yolk appearance). At this point, the visual acuity can begin to worsen.

The pseudohypopyon (stage 3) lesion is found in the teenage or later years. It results from a break in the retinal pigment epithelium, allowing accumulation of the yellow substance in the subretinal space with the formation of a fluid level.

Front 36

What disease is this?

Back 36

Best's Disease:
The atrophic stage, scarring stage (stage 4) may be accompanied by the deposition of pigment or choroidal neovascularization, both of which can lead to visual deterioration.

Front 37

What is the ONE test that tells you your pt has Best's?

Back 37

****Electrophysiology****
1. ERG normal.
2. EOG abnormal in affected patients and in carriers. This is one of the most useful tests in confirming the diagnosis, because usually if the ERG is normal, the EOG is also normal. Therefore, one test done to see if a patient has Best’s disease is EOG. Will probably be a test question.

Front 38

_______________:Onset fourth to sixth decade (in older patients).Normal vision to slight visual decrease ( 0/30-20/60)
May have metamorphopsia.
1. Symmetrical, round or oval, slightly elevated, yellow sub-retinal lesion 1/3 disc diameter in size (up to 1 DD).
2. Variable central pigmentation (dark spot in the center).

Back 38

Adult Onset Foveomacular Vitelliform Dystrophy (aka Peculiar foveomacular dystrophy of Gass, Adult-onset foveomacular pigment epithelial dystrophy (AOFPED), Pseudovitelliform macular degeneration, Adult vitelliform macular degeneration, Pseudo-Best’s disease (often confused with Best’s))

Front 39

Only Pattern dystrophy that is NOT autosomal dominant?

Back 39

Exception: Sjogren's reticular is autosomal recessive.

Front 40

Pattern Dystrophy fundus finding

Back 40

. Yellow or black pigmented pattern at level of RPE (multifocal, similar in appearance to Flavimaculatus).
Name describes changes at level of RPE HCI.
Bilateral, symmetric

Front 41

______________dystrophy: Point mutation in codon 167 of the peripherin or RDS (retinal degeneration - slow) gene on the chromosome. If you had a different defect in the SAME gene, you would have Retinitis Pigmentosa or Retinitis Ablicans

Back 41

Butterfly-pattern

Front 42

Other Terms for Retinitis pigmentosa include:

Back 42

Retinitis pigmentosa (and allied disorders)
A. Synonymous terms used in the literature over the years (Dr. Deglin said to know these!):
1. Tapeto-retinal pigmentosa.
2. Primary pigmentary retinal degeneration.
3. Pigmentary retinopathy.
4. Rod-cone dystrophy

Front 43

__________: characterized by inherited, progressive dysfunction, cell loss, and eventual atrophy of retinal tissue
i. Initial involvement of photoreceptors.
ii. Subsequent damage to inner retinal cells.

Back 43

Retinitis Pigmentosa

Front 44

RP + deafness is known as

Back 44

Usher's

Front 45

________________: HALLMARK symptom of RP

Back 45

Nyctalopia (night blindness) –

Front 46

Congenital stationary night blindness differentials:

Back 46

• Oguchi’s disease:_diffuse yellow or gray coloration of the fundus under light conditions. After two to three hours in total darkness, the normal color of the fundus returns- known as Mizuo’s phenomenon)
• Fundus albipunctatus.
• Fleck retina of Kandori

Front 47

RP visual field:

Back 47

Insidious progressive loss of peripheral VF.
ii. Early: relative scotomas in the mid-periphery, between 30-50° from fixation.
iii. Later: scotomas enlarge, deepen and coalesce to form a ring of field loss:
a. Gradually enlarge toward the far periphery.
b. Islands of relatively normal field can remain until late.
iv. Inner margin contracts slowly toward central field, producing tunnel vision.
v. Long after entire peripheral field is gone, a small oval of intact central field usually remains

Front 48

Central Vision loss seen in RP

Back 48

3. Central vision loss:
i. Central visual acuity may be preserved until the end stages of RP.
ii. Can be affected early by:
a. CME.
b. Diffuse retinal vascular leakage.
c. Macular pre-retinal fibrosis.
d. RPE defects.

Front 49

Relation of VA to type of RP:
a. Sector RP: ____________
b. Autosomal dominant RP: ___________.
c. Autosomal recessive RP: ________
d. X-linked recessive RP: ___________________

Back 49

a. Good vision throughout life.
b.More likely to retain good vision beyond 60 yrs of age
c.Less likely to retain good vision beyond 60 yrs of age.
d.VA usually 20/200 or worse (equal to ≤ 20°) by age 30-40.

Front 50

Top causes of flashing lights:

Back 50

1. PVD.
2. Migraine: shimmering zigzag, and move off to side.
3. Deep and subretinal inflammation (i.e. inflammatory white dot syndrome).
4. RP.

Front 51

Early fundus findings of pt with RP

Back 51

1. Early, appears near normal
i. “Retinitis pigmentosa sine pigmentoso”: do not have pigment clumps early.
ii. May exist for decades.
2. Attenuated retinal vessels,narrowed.
3. Mottling and granularity of the RPE.
4. Bone-spicule intraretinal pigmentation occurs later in disease:

Front 52

What causes bone spicule appearance in RP?

Back 52

4. Bone-spicule intraretinal pigmentation occurs later in disease:
i. Migration of pigment into the retina from disintegration of RPE cells.
ii. Accumulates in the interstitial spaces surrounding retinal vessels, especially at the junctions of vessels.

Front 53

Late fundus findings of RP

Back 53

Atrophy of RPE and choriocapillaris, with visibility of larger choroidal vessels.
Macular changes:
a. Drier or smoother
b. In some, atrophy (bull’s eye atrophy):
iii. CME:
a. Pigmentary changes around the macula.Common cause of decreased vision.
7. Optic nerve head pallor: Waxy pallor of the ONH.
ii. Late: optic atrophy and/or pre-papillary gliosis.
iii. Disc drusen in 10%.
on

“Coats’-like”: telengiectatic vessels that leak exudates

Front 54

Presence or absence of ___________________ is of significant prognostic importance with regard to retention of visual acuity over the next 5 years in pts with RP

Back 54

macular RPE defects


Absence of macular lesion was associated with only one line of acuity loss over the 5-year period.

Front 55

Most common cause of vision loss in RP?

Back 55

CME!

Front 56

Refractive status of most RP pts?

Back 56

Increased prevalence of high myopia and astigmatism.

Front 57

Most reliable method of quantifying change in visual deficit in RP pts?

Back 57

Visual Field--> 2-color static perimetry

Front 58

Scotopic (rod-dominated) ERG is affected to a much more severe degree than the photopic (cone-dominated) ERG in which type of RP?

Back 58

type I RP.
Early diffuse loss of rod sensitivity relative to cone sensitivity.
2. Childhood-onset nyctalopia.

Front 59

Type I RP:

Back 59

1. Early diffuse loss of rod sensitivity relative to cone sensitivity.
2. Childhood-onset nyctalopia.

Front 60

Type II RP:

Back 60

1. Regional and combined loss of both rod and cone retinal nyctalopia.
2. Adult-onset nyctalopia.
3. More common in simplex disease (sporadic or acquired).

Front 61

In Type 2 RP how is ERG is effected?

Back 61

Scotopic and photopic ERG’s are more equally abnormal in type II RP.


(adult onset nyctalopia)

Front 62

On an ERG, B-wave amplitude deficit is ___________ than a-wave amplitude deficit, both scotopically and photopically, for most forms of RP.

Back 62

relatively greater

Front 63

What type of RP is it, if there is no family history of anyone else other an your pt who has RP?

Back 63

Simplex:
a. Situation when there is no family history of RP.
b. 15-63% of cases (35% of cases in the US).
c. Assumed that most of these (up to 70%) represent recessive inheritance.

Front 64

_________RP:
a. Must remain a provisional Dx for 10 years of follow-up to exclude unusual presentations of generalized RP.
b. Best prognosis.
c. Pigmentary changes are limited to one or two quadrants.
d. VF abnormality only in regions of retinal pigmentary degeneration.
e. Relatively good ERG responses.

Back 64

Sector

Front 65

In RP inversus (peri-central and central RP): disease mostly confined to the __________.

Back 65

posterior pole

Front 66

_______________:
i. Retinitis pigmentosa along with autosomal recessive congenital deafness.
ii. Accounts for 50% of persons who are both deaf and blind.

Back 66

Usher’s syndrome:

Front 67

Cone-Rod Dystrophy (CRD):
a. General features:

Back 67

1. Symptoms relating to the cone dysfunction occur initially and are predominant.
i. No symptoms of cone dysfunction at birth (unlike rod monochromatism)

a. Decreased central vision
1. May PRECEDE fundus abnormalities.
2. 20/200 late.
b. Photophobia: patients prefer dim illumination.
c. Severe color vision defect: usually present only after VA worse than 20/40.
Dark adaptometry: Abnormal cone portion and normal rod portion until late.

Front 68

Management/Treatment for Cone-Rod Dystrophy

Back 68

f. Management:
1. No medical treatment is available.
2. Gray-tinted glasses with 20% light transmission and an additional front-surface metallic coating for outdoor use (reduce the transmission of light below the 4% level), helps with photosensitivity

Front 69

Pseudoretinitis pigmentosa often involve Retinal inflammatory diseases such as:

Back 69

a. Rubella retinopathy
b. Syphilis
c.IInfectious retinitis
d. Cancer-associated retinopathy (CAR):
e.Melanoma-associated retinopathy (MAR)
f. Drug toxicity

Front 70

Cancer-associated retinopathy (CAR) Symptoms:

Back 70

i. Vision loss: can progress rapidly or slowly.
ii. Halo of missing peripheral vision: ring-like scotoma.
iii. Central or paracentral positive visual phenomena:
a. “Shimmering” or “dancing” lights.
b. Photopsias.
iv. Night blindness.
ERG severely abnormal( extinguished) or rod responses larger than cone responses.

Front 71

Thioridazine Drugs: Phenothiazines bind to________and concentrate in uveal tract and RPE.
Toxicity Symptoms include:

Back 71

melanin

Blurring of central vision, poor night vision, brownish discoloration to vision.
a. Large “signal” plaques of pigment.
b. Diffuse, patchy atrophy of choriocapillaris, RPE, and overlying retina, simulating choroideremia.
c. Patient can go blind

Front 72

Thioridazine Drugs: Chloroquine:
Toxicity usually occurs total dose of:
Ocular finding:


NOTE: Findings for Hydroxychloroquine (Plaquenil) are similar

Back 72

total dose of 300 grams.

Bull’s-eye maculopathy: permanent and will worsen even when drug is stopped.
Mid-peripheral pigmentary changes with bone spicules can occur.


Do amsler and color test on these patients

Front 73

Traumatic retinopathy: Acquired retinopathy that is most commonly confused with RP!!!
Along with_______, account for many cases of misdiagnosed “unilateral RP”.

Back 73

DUSN

Front 74

many cases of misdiagnosed “unilateral RP" are usually the result of

Back 74

DUSEN or Traumatic Retinopathy

Front 75

Treatment of macular edema seen in RP includes:

Back 75

Diamox 500 mg/day , then decrease to 250 mg/day: Reduces CME in 50% in pts.

Front 76

T/F Pts with RP should be exposed to, and invest in therapies such as
a. Light deprivation.
b. Therapeutic bee stings.
c. Vasodilators.
d. Injections of placental tissues.
e. Russian treatment: intramuscular or peri-bulbar injections of ENCAD, an RNA extract of yeast.
f. Cuban treatment

Back 76

FALSE

all are WORTHLESS treatments