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Table 1 Clinical Phenotypic features of south Indian STGD1 patients

From: Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

ID Age/Sex Age of onset BCVA in BE Fundus Auto Fluorescence SD-OCT ERG
17 16/M 9 20/80 Foveal atrophy few flecks in macula Hypo AF and hyper AF flecks observed in nasal to optic disk IS/OS loss Normal
18 8/M 9 20/80 Macular atrophy Central hypo –AF, few hyper-AF flecks surrounding IS/OS loss Cone dysfunction
19 17/F 6 < 20/200 Mild temporal pallor; flecks in macula and posterior pole;
RPE and choroidal atrophy, extensive loss of choriocapillaries throughout fundus
Central hypo-AF, hyper and hypo AF flecks all over fundus IS/OS loss Cone-rod dysfunction
20 12/M 10 20/80 Macular atrophy with choriocapillary atrophy, few yellow flecks in macula Central hypo-AF, hyper-AF Flecks, surrounding atrophy, hyper and hypo-AF flecks all over the fundus IS/OS loss Cone-rod dysfunction
21 14/M 14 20/50 Foveal atrophy Central hypo-AF surrounded by hyper-AF flecks IS/OS loss Cone dysfunction
22 7/M 6 20/80 Homo Macular atrophy, Bulls eye macula Central hypo-AF, surrounding ill-defined hyper-AF ring hyper-AF flecks around post pole, extending nasally anterior to vascular arcades IS/OS loss Cone-rod dysfunction
24 10/F 7 20/80 Macular atrophy and flecks Central hypo-AF surrounded by hyper-AF Flecks IS/OS loss Normal
25 30/F 7 20/120 Macular atrophy, extensive loss of choriocapillaries and RPE atrophy Hypo-AF IS/OS loss Cone-rod dysfunction
26 10/M 9 20/200 Macular atrophy and flecks Hypo-AF surrounded by hyper and hypo-AF flecks IS/OS loss Cone-rod dysfunction
27 16/F 14 20/80 Macular atrophy Central area of hypo-AF with surrounding ring of hyper-AF IS/OS loss Normal
28 16/M 15 20/50 Foveal atrophy with yellow flecks in post pole, extending anterior to vascular arcades Central hypo-AF; few flecks anterior to vascular arcade IS/OS loss Normal
  1. BCVA = best corrected visual acuity; BE = both eyes; AF = autofluorescence; SD-OCT = spectral domain optical coherence tomography; ERG = electroretinography; IS/OS = inner segment / outer segment layer