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Flecks!

๐—ฆ๐˜๐—ฎ๐—ฟ๐—ด๐—ฎ๐—ฟ๐—ฑ๐˜โ€™๐˜€ ๐——๐—ถ๐˜€๐—ฒ๐—ฎ๐˜€๐—ฒโฃ โฃ โ— Most common macular dystrophyโฃ โ— Presents within first two decades but central vision loss may not occur until later in lifeโฃ โ— AR- Mutation in ABCA4 gene on chromosome 1p21-22โฃ โ— AD Stargardt disease (STGD3) is rarer - ELOVL4 geneโฃ



โฃ ๐˜š๐˜บ๐˜ฎ๐˜ฑ๐˜ต๐˜ฐ๐˜ฎ๐˜ด:โฃ โ— B/L central visual loss, photophobia, colour vision abnormalities, central scotomas, slow dark adaptationโฃ โ— Visual deterioration progresses rapidly.โฃ โฃ ๐˜๐˜ถ๐˜ฏ๐˜ฅ๐˜ถ๐˜ด: โฃ โ— Affects the macula โ€˜beaten metal appearanceโ€™ โ— Maybe normal in early cases- can be mistaken as functional visual lossโฃ โ— Late: Pigment mottling, Macular atrophy, bullโ€™s eyeโฃ maculopathy, fundus flecksโฃ โ— Flecks- pisciform, round or dot-like yellow-white lesions- accumulation of lipofuscin in the RPE but may also represent areas ofโฃ regional depigmentation and atrophy.โฃ โ— Distribution does not correlate well with the visual lossโฃ โ— May form individual or confluent patterns and have a typical central distribution with variable mid-periphery involvementโฃ โฃ ๐˜๐˜ช๐˜ด๐˜ถ๐˜ข๐˜ญ ๐˜ง๐˜ช๐˜ฆ๐˜ญ๐˜ฅ:โฃ โ— Normal in early stagesโฃ โ— Later, relative Central scotomas develop progressing to absolute central scotomas.โฃ โ— Peripheral visual fields preserved.โฃ โฃ ๐˜—๐˜ข๐˜ต๐˜ฉ๐˜ฐ๐˜ญ๐˜ฐ๐˜จ๐˜บ:โฃ Histology shows build up of lipofuscin like pigment in the RPE specificallyโฃ bisretinoid, N-retinylidene-N retinylethanolamine proteinโฃ โฃ ๐˜๐˜ถ๐˜ฏ๐˜ฅ๐˜ถ๐˜ด ๐˜ง๐˜ญ๐˜ข๐˜ท๐˜ช๐˜ฎ๐˜ข๐˜ค๐˜ถ๐˜ญ๐˜ข๐˜ต๐˜ถ๐˜ดโฃ 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.โฃ Later disease onset and slower visual deterioration, making fundus flavimaculatus a milder conditionโฃ 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.โฃ โฃ ๐˜๐˜ฏ๐˜ท๐˜ฆ๐˜ด๐˜ต๐˜ช๐˜จ๐˜ข๐˜ต๐˜ช๐˜ฐ๐˜ฏ๐˜ด ๐˜ข๐˜ฏ๐˜ฅ ๐˜”๐˜ข๐˜ฏ๐˜ข๐˜จ๐˜ฆ๐˜ฎ๐˜ฆ๐˜ฏ๐˜ต ๐˜ช๐˜ฏ ๐˜ต๐˜ฉ๐˜ฆ ๐˜ฏ๐˜ฆ๐˜น๐˜ต ๐˜ฑ๐˜ฐ๐˜ด๐˜ต!โฃ

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