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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