Ocular manifestations of Albinism and Phakomatoses
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| Autosomal recessive albinism types | Oculocutaneous Albinism (1, 2, and 3)<br>
Chediac-Higashi Syndrome<br>
Hermansky-Pudlak Syndrome<br>
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| X-Linked albinism types | Ocular albinism
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| Oculocutaneous Albinism characteristics: Type 1 vs. 2. vs. 3 | Type 1 = Complete Absence of Pigment<br>
Type 2 = Less pigment loss<br>
Type 3 = Minimal pigment loss<br>
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| Oculocutaneous Albinism inheritance type | autosomal recessive
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| Oculocutaneous albinism: Mechanism of reduced VA and nystagmus | misrouting of optic nerve fibers from retina to brain<br>more fibers cross over than should
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| Oculocutaneous Albinism: signs and symptoms | lack of pigment in hair, skin, and eyes (varying loss by type)<br>
photophobia<br>
reduced VA because of underdeveloped macula<br>
nystagmus<br>
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| Chediak-Higashi Syndrome: signs and symptoms | moderate to complete pigment loss in hair, eyes, and skin<br>
Hair usually has a distinct, silvery, metallic sheen<br>
Increased bleeding and infections as patient ages<br>
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| Chediak-Higashi Syndrome: mode of inheritance | autosomal recessive
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| Hermansky-Pudlak Syndrome: mode of inheritance | autosomal recessive
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| Hermansky-Pudlak Syndrome: signs and symptoms | variable amount of depigmentation<br>
iris transillumination defects<br>
nystagmus<br>
strabismus<br>
serious bleeding disorders throughout life <br>
severe photophobia <br>
reduced VA<br>
high refractive error<br>
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| Hermansky-Pudlak Syndrome: indicated tests for suspects | platelet aggregation
bleeding time
platelet electron microscopy
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| Ocular Albanism: mode of inheritance | X-linked recessive
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| Hermansky-Pudlak Syndrome associated with what nationality? | Puerto Ricans
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| Hermansky-Pudlak Syndrome defined | Oculocutaneous Albinism with pseudohemophilia
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| Neurofibromatosis: mode of inheritance | autosomal dominant
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| Neurofibromatosis Type 1: signs | cafe au lait spots on trunk and extremities that increase in size with age<br>yellowish or brown spots under arms or in groin area<br>Lisch nodules (brown lumps) on 90% of patients<br><b>15-40% have optic nerve gliomas that may interfere with vision</b>
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| Bilateral optic gliomas are pathognomonic for what condition? | Neurofibromatosis Type 1
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| Sturge-Weber Syndrome a.k.a.? | encephalotrigeminal angiomatosis
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| Sturge-Weber Syndrome: signs | Port wine stains<br>seizures<br>headaches<br>mental delays secondary to swelling of meninges<br>
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| Sturge-Weber Syndrome: associated ocular conditions | glaucoma on side of body with port wine stain<br>
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| Von Hippel Landau disease: mode of inheritance | autosomal dominant (50% of all offspring will have disease)
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| Von Hippel Landau disease: signs | hemangioblastomas of retina and CNS<br>endolymphatic sac tumors<br>pancreatic cysts and tumors<br>renal cell carcinomas<br>tortuous veins secondary to increased pressure
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| Von Hippel Landau disease: etiology | mutation on chromosome 3
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| Tuberous sclerosis: mode of inheritance | autosomal dominant
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| Tuberous sclerosis: signs | seizures<br>mental retardation<br>benign skin and eye tumors (also on other organs)
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| Wyburn-Mason syndrome: mode of inheritance | *not inherited* but congenital<br>no prediliction for race or sex
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| Wyburn-Mason syndrome: signs | arteriovenous (AV) malformations CNS *and* the retina<br>If only in eye, called A-V shunt
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