Table 1 Clinical Phenotypic features of south Indian STGD1 patients
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 |