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Ocular manifestations of Albinism and Phakomatoses

Autosomal recessive albinism types Oculocutaneous Albinism (1, 2, and 3)<br> Chediac-Higashi Syndrome<br> Hermansky-Pudlak Syndrome<br>
X-Linked albinism types Ocular albinism
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>
Oculocutaneous Albinism inheritance type autosomal recessive
Oculocutaneous albinism: Mechanism of reduced VA and nystagmus misrouting of optic nerve fibers from retina to brain<br>more fibers cross over than should
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>
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>
Chediak-Higashi Syndrome: mode of inheritance autosomal recessive
Hermansky-Pudlak Syndrome: mode of inheritance autosomal recessive
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>
Hermansky-Pudlak Syndrome: indicated tests for suspects platelet aggregation bleeding time platelet electron microscopy
Ocular Albanism: mode of inheritance X-linked recessive
Hermansky-Pudlak Syndrome associated with what nationality? Puerto Ricans
Hermansky-Pudlak Syndrome defined Oculocutaneous Albinism with pseudohemophilia
Neurofibromatosis: mode of inheritance autosomal dominant
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>
Bilateral optic gliomas are pathognomonic for what condition? Neurofibromatosis Type 1
Sturge-Weber Syndrome a.k.a.? encephalotrigeminal angiomatosis
Sturge-Weber Syndrome: signs Port wine stains<br>seizures<br>headaches<br>mental delays secondary to swelling of meninges<br>
Sturge-Weber Syndrome: associated ocular conditions glaucoma on side of body with port wine stain<br>
Von Hippel Landau disease: mode of inheritance autosomal dominant (50% of all offspring will have disease)
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
Von Hippel Landau disease: etiology mutation on chromosome 3
Tuberous sclerosis: mode of inheritance autosomal dominant
Tuberous sclerosis: signs seizures<br>mental retardation<br>benign skin and eye tumors (also on other organs)
Wyburn-Mason syndrome: mode of inheritance *not inherited* but congenital<br>no prediliction for race or sex
Wyburn-Mason syndrome: signs arteriovenous (AV) malformations CNS *and* the retina<br>If only in eye, called A-V shunt
Created by: lastscout