๐ฆ๐๐ฎ๐ฟ๐ด๐ฎ๐ฟ๐ฑ๐โ๐ ๐๐ถ๐๐ฒ๐ฎ๐๐ฒโฃ โฃ โ Most common macular dystrophyโฃ โ Presents within first two decades but central vision loss may not occur until later in lifeโฃ โ AR- Mutation in ABCA4 gene on chromosome 1p21-22โฃ โ AD Stargardt disease (STGD3) is rarer - ELOVL4 geneโฃ
โฃ ๐๐บ๐ฎ๐ฑ๐ต๐ฐ๐ฎ๐ด:โฃ โ B/L central visual loss, photophobia, colour vision abnormalities, central scotomas, slow dark adaptationโฃ โ Visual deterioration progresses rapidly.โฃ โฃ ๐๐ถ๐ฏ๐ฅ๐ถ๐ด: โฃ โ Affects the macula โbeaten metal appearanceโ โ Maybe normal in early cases- can be mistaken as functional visual lossโฃ โ Late: Pigment mottling, Macular atrophy, bullโs eyeโฃ maculopathy, fundus flecksโฃ โ Flecks- pisciform, round or dot-like yellow-white lesions- accumulation of lipofuscin in the RPE but may also represent areas ofโฃ regional depigmentation and atrophy.โฃ โ Distribution does not correlate well with the visual lossโฃ โ May form individual or confluent patterns and have a typical central distribution with variable mid-periphery involvementโฃ โฃ ๐๐ช๐ด๐ถ๐ข๐ญ ๐ง๐ช๐ฆ๐ญ๐ฅ:โฃ โ Normal in early stagesโฃ โ Later, relative Central scotomas develop progressing to absolute central scotomas.โฃ โ Peripheral visual fields preserved.โฃ โฃ ๐๐ข๐ต๐ฉ๐ฐ๐ญ๐ฐ๐จ๐บ:โฃ Histology shows build up of lipofuscin like pigment in the RPE specificallyโฃ bisretinoid, N-retinylidene-N retinylethanolamine proteinโฃ โฃ ๐๐ถ๐ฏ๐ฅ๐ถ๐ด ๐ง๐ญ๐ข๐ท๐ช๐ฎ๐ข๐ค๐ถ๐ญ๐ข๐ต๐ถ๐ดโฃ 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.โฃ Later disease onset and slower visual deterioration, making fundus flavimaculatus a milder conditionโฃ 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.โฃ โฃ ๐๐ฏ๐ท๐ฆ๐ด๐ต๐ช๐จ๐ข๐ต๐ช๐ฐ๐ฏ๐ด ๐ข๐ฏ๐ฅ ๐๐ข๐ฏ๐ข๐จ๐ฆ๐ฎ๐ฆ๐ฏ๐ต ๐ช๐ฏ ๐ต๐ฉ๐ฆ ๐ฏ๐ฆ๐น๐ต ๐ฑ๐ฐ๐ด๐ต!โฃ
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