Hereditary Retinal Diseases Introduction and update !"#"$%&'()*+(),-./&01& 2)3,%&'4)+"%#"565&.7&8"+("9%,& 8"+("9%,&'6%6)&:,"*);5"6$&<.##)9)&.7&=>?%,&8)@"+",)&& A55"56%,6&B;.7)55.;&",&6()&'>;9);$&0)4%;6?),6& & Objectives
• 2)*")C&56>@$&6..#5&7.;&();)@"6%;$&;)3,%#&@"5)%5)5& • 2)*")C&"?"6%6.;5&.7&A280& • 2)*")C&4.6),3%#&6;)%6?),6&7.;&();)@"6%;$&;)3,%#&@"5)%5)5& Inherited retinal diseases
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Retinitis Pigmentosa Cone Dysfunction Syndromes ABCA4 Spectrum North Carolina Stargardt/Fundus • Achromatopsia Flavimaculatus Macular Nonsyndromic RP • Oligocone Trichromacy - Macular Dysfunction Dystrophy • Rod-cone dystrophies • Blue cone monochromacy - Peripheral Cone • Cone-rod dystrophies • Enhanced S-cone syndrome - Peripheral Rod/Cone • Cone dystrophies Isolated Foveal Hypoplasia Leber’s Congential Amaurosis BEST1 Spectrum Rod Dysfunction Syndromes • AD Best Macular Dystrophy SECORD/Juvenile RP • Congenital Stationary Night Blindness X-Linked RP • Multifocal Vitelliform Albinism X-Linked • AOFPED AR RP Complete CSNB • Oculocutaneous AD RP • AR Best Macular Dystrophy Albinism Incomplete CSNB • ADVIRC Syndromic RP Autosomal Dominant • Ocular Albinism Ciliopathies RHO,GNAT1, PDE6B PRPH2 Spectrum • Usher's syndrome Autosomal Recessive • Pattern Dystrophy • Bardet – Beidl Syndrome GRM6, TRPM1, LRIT1 • Central Areolar Choroidal • Joubert Syndrome Dys. • Fundus albipunctatus (RDH5) • Senior Loken Syndrome • Oguchi Disease (ARR, GRK1) EFEMP1 Spectrum • Alstrom Syndrome Dominant Drusen Mitochondrial (Kearns-Sayre) Doyne’s Honeycomb Peroxisomal (Zellweger, Refsum) X-linked Retinoschisis Dystrophy Choroidal Degenerations Fleck Dystrophies Malattia Levintenese Choroderemia • Benign Familial Fleck Gyrate Atrophy Sorsby Macular Dystrophy • Retinitis Punctata Albescens Bietti Crystalline Dystrophy • Alport Occult Macular Dystrophy Late Onset Retinal Dystrophy
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OCT FA Color testing Family history taking
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A word about Drusen and Drusen-like lesions
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