Flecks!

𝗦𝘁𝗮𝗿𝗴𝗮𝗿𝗱𝘁’𝘀 𝗗𝗶𝘀𝗲𝗮𝘀𝗲⁣ ⁣ ● Most common macular dystrophy⁣ ● Presents within first two decades but central vision loss may not occur until later in life⁣ ● AR- Mutation in ABCA4 gene on chromosome 1p21-22⁣ ● AD Stargardt disease (STGD3) is rarer - ELOVL4 gene⁣



⁣ 𝘚𝘺𝘮𝘱𝘵𝘰𝘮𝘴:⁣ ● B/L central visual loss, photophobia, colour vision abnormalities, central scotomas, slow dark adaptation⁣ ● Visual deterioration progresses rapidly.⁣ ⁣ 𝘍𝘶𝘯𝘥𝘶𝘴: ⁣ ● Affects the macula ‘beaten metal appearance’ ● Maybe normal in early cases- can be mistaken as functional visual loss⁣ ● Late: Pigment mottling, Macular atrophy, bull’s eye⁣ maculopathy, fundus flecks⁣ ● Flecks- pisciform, round or dot-like yellow-white lesions- accumulation of lipofuscin in the RPE but may also represent areas of⁣ regional depigmentation and atrophy.⁣ ● Distribution does not correlate well with the visual loss⁣ ● May form individual or confluent patterns and have a typical central distribution with variable mid-periphery involvement⁣ ⁣ 𝘝𝘪𝘴𝘶𝘢𝘭 𝘧𝘪𝘦𝘭𝘥:⁣ ● Normal in early stages⁣ ● Later, relative Central scotomas develop progressing to absolute central scotomas.⁣ ● Peripheral visual fields preserved.⁣ ⁣ 𝘗𝘢𝘵𝘩𝘰𝘭𝘰𝘨𝘺:⁣ Histology shows build up of lipofuscin like pigment in the RPE specifically⁣ bisretinoid, N-retinylidene-N retinylethanolamine protein⁣ ⁣ 𝘍𝘶𝘯𝘥𝘶𝘴 𝘧𝘭𝘢𝘷𝘪𝘮𝘢𝘤𝘶𝘭𝘢𝘵𝘶𝘴⁣ Shares obvious phenotypic similarities with Stargardt disease and it is now consensual that fundus flavimaculatus and Stargardt disease are genetically linked and that the former represents a subset of Stargardt manifestations.⁣ Later disease onset and slower visual deterioration, making fundus flavimaculatus a milder condition⁣ Flecks are more diffusely scattered throughout the posterior pole and extend out to the midperiphery, but the macula is less involved, allowing better visual performance.⁣ ⁣ 𝘐𝘯𝘷𝘦𝘴𝘵𝘪𝘨𝘢𝘵𝘪𝘰𝘯𝘴 𝘢𝘯𝘥 𝘔𝘢𝘯𝘢𝘨𝘦𝘮𝘦𝘯𝘵 𝘪𝘯 𝘵𝘩𝘦 𝘯𝘦𝘹𝘵 𝘱𝘰𝘴𝘵!⁣

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