Hereditary Retinal Diseases Introduction and update - PowerPoint PPT Presentation

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Retinal Degenerations/Dystrophies Macular Degenerations/ Dystrophies ABCA4 Spectrum Retinitis Pigmentosa North Carolina Cone Dysfunction Syndromes Stargardt/Fundus Macular • Achromatopsia Flavimaculatus Nonsyndromic RP Dystrophy • Oligocone Trichromacy - Macular Dysfunction • Rod-cone dystrophies • Blue cone monochromacy - Peripheral Cone • Cone-rod dystrophies • Enhanced S-cone syndrome - Peripheral Rod/Cone Isolated Foveal • Cone dystrophies Hypoplasia BEST1 Spectrum Leber’s Congential Amaurosis Rod Dysfunction Syndromes • AD Best Macular Dystrophy SECORD/Juvenile RP • Congenital Stationary Night Blindness • Multifocal Vitelliform Albinism X-Linked RP X-Linked • AOFPED • Oculocutaneous AR RP Complete CSNB • AR Best Macular Dystrophy AD RP Albinism Incomplete CSNB • ADVIRC • Ocular Albinism Autosomal Dominant Syndromic RP PRPH2 Spectrum RHO,GNAT1 , PDE6B Ciliopathies • Pattern Dystrophy Autosomal Recessive • Usher's syndrome • Central Areolar Choroidal GRM6, TRPM1, LRIT1 • Bardet – Beidl Syndrome Dys. • Joubert Syndrome • Fundus albipunctatus ( RDH5 ) • Senior Loken Syndrome • Oguchi Disease ( ARR , GRK1 ) EFEMP1 Spectrum • Alstrom Syndrome Dominant Drusen Mitochondrial (Kearns-Sayre ) Doyne’s Honeycomb X-linked Retinoschisis Peroxisomal (Zellweger, Refsum) Dystrophy Choroidal Degenerations Malattia Levintenese Fleck Dystrophies Choroderemia • Benign Familial Fleck Sorsby Macular Dystrophy Gyrate Atrophy • Retinitis Punctata Albescens Bietti Crystalline Dystrophy Occult Macular Dystrophy • Alport Late Onset Retinal Dystrophy A@%46)@&%,@&?.@"G)@&C"6(&4);?"55".,&.7&8%;-&B),,)5"/&80/&B(0&

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ERG equipment

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Macular degenerations and dystrophies: pitfalls and close calls

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