Systemic Conditions With Retinal Findings PDF

SYSTEMIC CONDITIONS WITH RETINAL FINDINGS 75  SICKLE CELL ANEMIA Mutation in hemoglobin gene Causing “sickled” shape when low oxygen levels present Sickle cell syndromes common in 10% of AA Sickle cel...

SYSTEMIC CONDITIONS WITH RETINAL FINDINGS 75  SICKLE CELL ANEMIA Mutation in hemoglobin gene Causing “sickled” shape when low oxygen levels present Sickle cell syndromes common in 10% of AA Sickle cell trait (SA): 8-9% Sickle cell anemia (SS): 0.4% Worst systemically, few ocular complications - Some children have non-proliferative signs Hemoglobin C disease (SC): 0.1-0.3% Milder systemic, proliferative retinopathy common Thalassemia (SThal): 0.5-1% Rare in US, proliferative retinopathy common -SS à systemic -SC à has more ocular effects 76 SC – ANTERIOR SEGMENT Conjunctival sickling sign, “comma” Iris atrophy Hyphema 77  NON- PROLIFERATIVE – POSTERIOR SEGMENT Posterior Pole Retinal vessel tortuosity Occlusions ERM Angioid streaks Periphery Salmon patches (top left, top right) Iridescent spots (bottom right) Black sunburst spots (bottom left) Schisis cavities -highlighted terms are buzzwords 78  PROLIFERATIVE – POSTERIOR SEGMENT Peripheral arteriolar occlusion AV anastomoses (hair-pin loop) Neovascularization (Sea fan) Vitreous hemorrhage Retinal detachment -highlighted terms are buzzwords -usually cause vision loss 79 80 81 ALBINISM Group of disorders characterized by ophthalmic features with or without systemic manifestations Oculocutaneous or ocular OCA has several subtypes Little to no melanin in eyes, skin, hair Blue/light brown eyes, appear red - Light sensitivity More likely to sunburn 82  ALBINISM Ocular Signs Iris transillumination Varies from person to person Photophobia Nystagmus with abnormal head position Strabismus Refractive error/amblyopia Foveal hypoplasia Hypopigmented fundus Abnormal decussation of optic nerve fibers Low Vision! -can see in direct retro parallelepiped -fundus is called see thru 83 -optic nerves are circled 84