Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease

Table 1

Clinical features of STGD patients with ABCA4 mutations.

Family ID	Age/sex	BCVA		Refraction		Fundus	FAF	SD-OCT	Full field ERG
		RE	LE	RE	LE
SG-01_II:1	27/M	6/60, N8	6/36, N8	−2.5 DS	−2.75 DS	Macular atrophy, no flecks	Hypo-AF surrounded by ring of hyper-AF	IS/OS loss	Normal
SG-02_II:1	31/M	6/60, N34	4/60, N36	0	0	Macular atrophy, macular flecks	Hypo-AF surrounded by hyper- and hypo-AF flecks	IS/OS loss	Normal
SG-03_II:1	22/M	6/60, N18	6/45, N18	−1.25 DS/; −1.00 DC 90°	−1.50 DS/; −0.50 DC 20°	Macular atrophy, extensive flecks	Hypo-AF surrounded by hyper- and hypo-AF flecks	IS/OS loss	Rod-cone dysfunction
SG-04_II:1	26/M	6/38, N12	6/38, N12	−1.00 DS/; −0.5 DC 70°	−1.50 DS	Macular atrophy, no flecks	NA	IS/OS loss	Normal
SG-05_V:1	16/F	6/60, N12	6/38, N12	+0.5 DS/; −0.75 DC 5°	+0.5 DS/; −0.75 DC 170°	Macular atrophy, temporal pallor of optic discs	Hypo-AF surrounded by hyper-AF flecks	IS/OS loss	Cone-rod dysfunction

BCVA: best corrected visual acuity, RE: right eye, LE: left eye, BE: both eyes, IOP: intraocular pressure, PR: photoreceptors, AF: autofluorescent, SD-OCT: spectral domain optical coherence tomography, FAF: fundus autofluorescence, and ERG: electroretinography.
IS/OS: inner segment/outer segment layer, NA: not available.