Ophthalmology Systemic Diseases That Have Effects On Eyes

Front 1

Aicardi

Back 1

XLD (lethal in males) Severe MR, infantile spasms, agenesis of corpus collosum, lacunar chorioretinal degeneration

Front 2

Conjunctival amyloidosis

Back 2

most common=Primary Localized; typically w/out systemic involvement nor local cause

Front 3

Corneal amyloidosis

Back 3

Lattice dystrophy, Meretojas syndrome (lattice + systemic), primary gelatinous droplike dystrophy, polymorphic amyloid degeneration

Front 4

Eyelid amyloidosis

Back 4

most common=Primary Systemic; appears as ecchymotic waxy eyelid papules (also, may infiltrate vitreous & uveal tract)

Front 5

sarcoid

Back 5

koeppe & busacca nodules; vitritis, chorioretinal nodules, papillitis, scleritis,lacrimal gland dx=noncaseating epitheioid tubercle composed of multinucleated langhans giant cells surrounded by lymphocytes; 25% have lacrimal/ocular involvement; 2/3=ant iritis a) recurrent, difficult to manage, b) acute granulomatous-responds well to steroids;

Front 6

Albinoidism

Back 6

AD w/ incomplete penetrance; no severe visual consequence (normal vision, no nystagmus) like albinism=photophobia, iris TID, funus hypopigmentation

Front 7

Oculocutaneous albinism

Back 7

AR or XL; in XL, female carriers show mosaicism in periphery & dx can be confirmed by skin bxmacromelanosomes; +abnormal retinogeniculostriate projections w/ foveal hypoplasia; abnormal projection of temporal retinal fibers (decussate), chiasm has LESS cross than normal eye; normal lat geniculate nuclei
Yellow mutant variety: AR

Front 8

Nettleship-Falls albinism

Back 8

XLR

Front 9

Tyrosinase positive oculocutaneous albinism

Back 9

AR

Front 10

Alports

Back 10

XLR or AR; Most common eye finding=anterior lenticonus/ant polar cat; also associated w/ megalocornea & microspherophakia,PPMD, retinal flecks; **hematuria & hearing loss

Front 11

Lowe’s

Back 11

(oculocerebro-renal dystrophy)XLR actin cytoskeleton abnormalit; female carriers=punctate cortical cats; bilateral cong cataracts, microspherophakia, infantile glaucoma (~50% of all affected males), corneal degeneration, strabismus, and nystagmus; hypotonia, MR, failure to thrive, seizures, renal tubular acidosis (aminoaciduria and phosphaturia), renal rickets; screen w/urine protein & ??reducing subtance analysis

Front 12

Myotonic dystrophy

Back 12

Frontal bossing, balness, testicular atrophy;
Associated with CPEO and christmas tree cataract

Front 13

Peters

Back 13

faulty migration of neural crest cells between surface ectoderm of cornea & separating lensremain adherent @ central cornea; absence of Descemets & posterior stroma centrally w/ peripheral clearing; central opacity may decrease over time (either uni/bilateral)

Front 14

JXG:

Back 14

*spontaneous hyphema*; cutaneous disorder w/ benign lipid filled histiocytic & Touton giant cell proliferation; iris=richly vascularized orange nodules or diffusely infiltrativelooks heterochromic

Front 15

Histiocytosis X

Back 15

Abnormal prolif of dendryitic histiocytes; osteolytic lesions; poor prognosis=<2y/o or liver/marrow involvement
Hans-Schuller-Christian: DI + lytic skull lesions + proptosis
Letterer Siwe: very ill pts
TX: intralesional steroid injections, curettage, systemic steroids, radiation

Front 16

Waardenburgs

Back 16

AD; developmental anomalies of eyelids, nasal root, brow, heterochromia, white forelocks & sensorineural deafness

Front 17

Hermansky-Pudlak

Back 17

Puerto ricans; potentially lethal; abn plateletsbleeding diathesis (increased bleeding & bruising)

Front 18

Chediak Higashi syndrome

Back 18

AR; potentially lethal; d/o of microtubule formationleukocytes demonstrate poor fusion of lysosomes to phagosomes  cant release enzymes from lysosomeslarge granulated useless neuts recurrent pyogenic infections inc risk of lymphoreticular malignancies; neutropenia, lymphocytosis, anemia, thrombocytopenia

Front 19

CPEO

Back 19

assoc w/ myotonic dystrophy (w/ polychromatic lenticular deposits) & oculopharyngeal dystrophy (French-Canadian ancestory); long h/o gradually wosening ptosis; Biopsy=”ragged red fibers”

Front 20

Kearns-Sayre

Back 20

CPEO + cardiac conduction abn (heart block sudden death) + RPE changes (pigmentary degen of retina w/ preserved VA w/out vit involvement); mito DNA inheritance; onset before 20 y/o

Front 21

Homocystinuria

Back 21

AR, tall, light hair, defect in methionine metabolism elevated homocystine & methionine, low cysteinebrittle zonules, seizures, MR (50%), osteoporosis, scoliosis, chest deformities, progressive renal dysfunction, “sticky blood”=inc risk of thrombosis (esp w/ anesthesia); 90%=ectopia lentis (inf/nasal); >30% bilateral (80% by age 15) angle closure if ant dislocates; Tx=low methionine, high cysteine diet (to reduce ectopia lentis); vit B6

Front 22

Tyrosinemia

Back 22

lysosomal instability skin & eye inflammation _ mental retardation; corneal findings=nonstaining pseudodendrites (DDx=HSV)

Front 23

Galactosemia

Back 23

AR defect in galactokinase or galactose 1P uridyl transferase; oil droplet cataract (early is reversible), liver dysfunction, mental deficiency w/in first few weeks of life; fatal if untreated; screen w/ ??urine protein & ??reducing subtance analysis

Front 24

Fabry’s disease

Back 24

XLR: glycolipidosis; findings: males (& female carriers) corneal verticullata, spoking PSC cataracts, angiokeratomas (including conj & retinal telangiectasis), vascular anomalies in heart, kidney, brain; burning pain in hands/feet; Males die from Renal complications; TX=kidney transplant, alpha-galactosidase replacement

Front 25

Cystinosis

Back 25

AR; K crystals in ant stroma (1st central & spread peripherally), conj & uvea  photophobia, DDx: monoclonal gammopathies, Bietti’s crystalline dystrophy
Infantile (nephropathic)
Adolescent (late onset)
Adult (benign)

Front 26

Infantile cystinosis(topical for eyes + systemic for kidneys)

Back 26

(nephropathic) severe; dwarf, rickets, renal failure; die(renal) before puberty; + RPE (pig changes (Salt/Pepper fundus); no significant visual disturbance; TX= cysteamine

Front 27

Adolescent (late onset) cystinosis

Back 27

like infantile but not as bad; no RPE changes

Front 28

Adult (benign) cystinosis

Back 28

?inheritance; asymptomatic; (incidentaloma), no RPE changes

Front 29

Wilsons

Back 29

hepatolenticular degeneration”): dec ceruloplasmin by liver; KF rings (pigment in Descemet’s membrane), liver failure, dementia, sunflower cataract + neuro findings; TX=penicillamine; use ring to monitor Tx; earliest findings are seen on gonioscopy

Front 30

Gyrate atrophy

Back 30

AR Chr 10 (GYRATE GENE or ORNITHINE); metabolic d/o (Scandinavian Laplanders. +asooc w/ ornithine aminotransferase defurea cycle problemsaccumulation of ornithine (dec lysine) toxic to RPE RPE degen in peripheryscalloped RPE loss w/ eventual loss of choriocapillaris & medium sized choroidal vessels. Normal lifespan; tx=dec arginine diet intake & give vit B6

Front 31

Mucopoly-saccharidosis

Back 31

all AR with K clouding, RPE changes and ON atrophy unless stated otherwise:
1H=hurler; 1S=Scheie; 2=hunter (XLR, rare K clouding), 3=sanfillipo (no K clouding), 4=Morquio (no RPE changes), 6=maroteaux (no RPE changes, no ON atrophy), 7=sly's (no ON atrophy)

Front 32

Gangliosidosis

Back 32

All are AR; most die by 10 years old
GMII, T1(Taysacks) is most common; cherry red spot=TaySachs & Sandhoffs

Front 33

Weill-Marchessani

Back 33

AR; high myope, short stature, stubby fingers, broad hands/tight joints—very spherical lens (microspherophakia)prone to angle closure w/ miosis—break block by dilation to tighten zonule & decrease lens AP diameter & pull lens back

Front 34

Fetal alcohol syndrome

Back 34

epicanthal folds, strabismus, blepharophimosis, long eyelashes, microphthalmia, telecanthus, anterior segment dysgenesis, persistent hyaloids vessel. (peters, tortuous retinal vessels, optic nerve hypoplasia); 30% incidence in EtOH moms

Front 35

Goldenhars

Back 35

sporadic/AD; abn in 1st brachial arch; epibulbar dermoids, facial anomalies (upper lid colobomas, preauricular skin tags & aural fistulas) & skeletal anomalies, preauricular appendages, aural fistulas, maxillary or mandibular hypopasia, hemifacial micromaia, vertebral deformities, notching of upper lid, Duanes

Front 36

Marfan’s

Back 36

AD (15% sporadic); abnormality in fibrilln (in collagen); 60%=non-progressive lens subluxation; high risk of RD; assoc w/ myopia, high astigmatism, Kcone, Tx: as non-progressive, no need for surgery; use glasses/CL’s, dilation to see around lens, needs readers/bifocals as poor accomadation

Front 37

Parinauds oculoglandular syndrome

Back 37

follicles w/ moderate discharge, granulomas, h/o animal contact (cat scratch, rickettsiae, syphilis, mycobacteria); histo=follicles + granulomas

Front 38

Sjogrens

Back 38

Primary: increased risk for lymphoma, autoimmune thyroiditis, waldenstroms macroglobulinemia
Classic: dry eyes, dry mouth, RA

Front 39

Erdheim-Chester

Back 39

multisystem lipogranulomashistiocytes, touton giant cells, lymphocytes, plasma cells; proptosis, xanthelasma like lesions