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39 Cards in this Set
- Front
- Back
Aicardi
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XLD (lethal in males) Severe MR, infantile spasms, agenesis of corpus collosum, lacunar chorioretinal degeneration
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Conjunctival amyloidosis
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most common=Primary Localized; typically w/out systemic involvement nor local cause
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Corneal amyloidosis
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Lattice dystrophy, Meretojas syndrome (lattice + systemic), primary gelatinous droplike dystrophy, polymorphic amyloid degeneration
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Eyelid amyloidosis
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most common=Primary Systemic; appears as ecchymotic waxy eyelid papules (also, may infiltrate vitreous & uveal tract)
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sarcoid
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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;
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Albinoidism
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AD w/ incomplete penetrance; no severe visual consequence (normal vision, no nystagmus) like albinism=photophobia, iris TID, funus hypopigmentation
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Oculocutaneous albinism
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AR or XL; in XL, female carriers show mosaicism in periphery & dx can be confirmed by skin bxmacromelanosomes; +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 |
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Nettleship-Falls albinism
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XLR
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Tyrosinase positive oculocutaneous albinism
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AR
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Alports
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XLR or AR; Most common eye finding=anterior lenticonus/ant polar cat; also associated w/ megalocornea & microspherophakia,PPMD, retinal flecks; **hematuria & hearing loss
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Lowe’s
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(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
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Myotonic dystrophy
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Frontal bossing, balness, testicular atrophy;
Associated with CPEO and christmas tree cataract |
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Peters
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faulty migration of neural crest cells between surface ectoderm of cornea & separating lensremain adherent @ central cornea; absence of Descemets & posterior stroma centrally w/ peripheral clearing; central opacity may decrease over time (either uni/bilateral)
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JXG:
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*spontaneous hyphema*; cutaneous disorder w/ benign lipid filled histiocytic & Touton giant cell proliferation; iris=richly vascularized orange nodules or diffusely infiltrativelooks heterochromic
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Histiocytosis X
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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 |
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Waardenburgs
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AD; developmental anomalies of eyelids, nasal root, brow, heterochromia, white forelocks & sensorineural deafness
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Hermansky-Pudlak
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Puerto ricans; potentially lethal; abn plateletsbleeding diathesis (increased bleeding & bruising)
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Chediak Higashi syndrome
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AR; potentially lethal; d/o of microtubule formationleukocytes demonstrate poor fusion of lysosomes to phagosomes cant release enzymes from lysosomeslarge granulated useless neuts recurrent pyogenic infections inc risk of lymphoreticular malignancies; neutropenia, lymphocytosis, anemia, thrombocytopenia
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CPEO
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assoc w/ myotonic dystrophy (w/ polychromatic lenticular deposits) & oculopharyngeal dystrophy (French-Canadian ancestory); long h/o gradually wosening ptosis; Biopsy=”ragged red fibers”
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Kearns-Sayre
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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
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Homocystinuria
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AR, tall, light hair, defect in methionine metabolism elevated homocystine & methionine, low cysteinebrittle 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
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Tyrosinemia
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lysosomal instability skin & eye inflammation _ mental retardation; corneal findings=nonstaining pseudodendrites (DDx=HSV)
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Galactosemia
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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
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Fabry’s disease
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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
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Cystinosis
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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) |
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Infantile cystinosis(topical for eyes + systemic for kidneys)
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(nephropathic) severe; dwarf, rickets, renal failure; die(renal) before puberty; + RPE (pig changes (Salt/Pepper fundus); no significant visual disturbance; TX= cysteamine
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Adolescent (late onset) cystinosis
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like infantile but not as bad; no RPE changes
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Adult (benign) cystinosis
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?inheritance; asymptomatic; (incidentaloma), no RPE changes
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Wilsons
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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
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Gyrate atrophy
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AR Chr 10 (GYRATE GENE or ORNITHINE); metabolic d/o (Scandinavian Laplanders. +asooc w/ ornithine aminotransferase defurea cycle problemsaccumulation of ornithine (dec lysine) toxic to RPE RPE degen in peripheryscalloped RPE loss w/ eventual loss of choriocapillaris & medium sized choroidal vessels. Normal lifespan; tx=dec arginine diet intake & give vit B6
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Mucopoly-saccharidosis
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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) |
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Gangliosidosis
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All are AR; most die by 10 years old
GMII, T1(Taysacks) is most common; cherry red spot=TaySachs & Sandhoffs |
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Weill-Marchessani
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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
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Fetal alcohol syndrome
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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
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Goldenhars
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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
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Marfan’s
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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
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Parinauds oculoglandular syndrome
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follicles w/ moderate discharge, granulomas, h/o animal contact (cat scratch, rickettsiae, syphilis, mycobacteria); histo=follicles + granulomas
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Sjogrens
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Primary: increased risk for lymphoma, autoimmune thyroiditis, waldenstroms macroglobulinemia
Classic: dry eyes, dry mouth, RA |
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Erdheim-Chester
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multisystem lipogranulomashistiocytes, touton giant cells, lymphocytes, plasma cells; proptosis, xanthelasma like lesions
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