Purpose: To provide the clinical and genetic description of @entity1 with clearly recognizable foveal sparing in @entity6119 ( @entity24816 ). Methods: We defined foveal sparing as @entity2479 , observed as absence of autofluorescence, that surrounds the fovea for at least 180   and does not include the fovea in eyes with a visual acuity (VA) above 20/200. We reviewed medical files for data on medical history, VA, ophthalmoscopy, static perimetry, fundus photography, spectral-domain optical coherence tomography (SD-OCT), @entity941 angiography (FA), fundus autofluorescence (FAF) and electroretinography (ERG). We screened the @entity24816 gene for mutations. Results: We selected 13 @entity1 of whom seventeen eyes revealed foveal sparing. Foveal sparing was bilateral in 5 @entity1 . In 4 eyes, the foveae gradually became @entity3202 after initial foveal sparing. Mean age at onset was 51 years (range: 32-67 years). Initial symptoms included decreased VA in 43%, reading difficulties in 14%, and paracentral @entity1019 in 14%. Two @entity1 were initially asymptomatic. The VA was >= 20/40 in all eyes, and >= 20/25 in 41%. FAF imaging revealed hyperautofluorescent flecks and parafoveal @entity2479 , SD-OCT showed sharply delineated @entity194 . Perimetry showed @entity1019 with intact foveal sensitivity. We identified @entity24816 mutations on 19 of the 26 alleles. Conclusions: Foveal sparing occurs mainly in late-onset @entity24816 and characterizes the mild end of clinical variations in @entity24816 . Retinal anatomy, metabolism, and biochemistry as well as genetic factors other than @entity24816 can be of influence in the etiology of foveal sparing. Knowledge on these fovea-protective factors can provide opportunities for future therapeutic strategies.

Foveal sparing in XXXX .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity2479 :: ('MESH:D012173', 'Disease') :: ['retinal atrophy'] @entity3202 :: ('MESH:D016109', 'Disease') :: ['atrophic'] @entity194 :: ('MESH:D001284', 'Disease') :: ['atrophy'] @entity941 :: ('MESH:D019793', 'Chemical') :: ['fluorescein'] @entity6119 :: ('MESH:C580470', 'Disease') :: ['Stargardt disease'] @entity1019 :: ('MESH:D012607', 'Disease') :: ['scotomas', 'perifoveal scotomas'] @entity24816 :: ('24', 'Gene') :: ['STGD1', 'ABCA4']
@entity6119 :: (MESH:C580470,Disease) :: ['Stargardt disease']
