Table 2.

Phenotype Summary of All the Cases

	Pedigree 1 (Proband)	Pedigree 2 (Proband)	Pedigree 3 (Proband)	Pedigree 3 (II-2)	Pedigree 3 (II-3)
Gene (Variants)	NR2E3: c.[119-2A>C]; [1100+1124G>A]	GPR179: c.[903+343G>A]; [903+343G>A]	CNGB3: c.[1148delC]; [852+4751 A>T]
Symptoms	Nyctalopia at 3 years	Right exotropia – infancy	Nystagmus – infancy Photophobia - infancy	Nystagmus – infancy Photophobia - infancy	Nystagmus – infancy Photophobia - infancy
		Nyctalopia at 11 years
Age at Recent visit	17 years	17 years	23 years	19 years	14 years
Visual Acuity (Right Eye : Left Eye)	20/25: 20/25	20/70: 20/40	20/200: 20/200	20/160: 20/200	20/200: 20/250
Contrast Sensitivity	1.50: 1.50	1.65:165	0.75:0.60	0.75:0.60	0.75:0.75
Color vision	Moderate RG defect	normal	Strong RG & BY deficit	Strong RG & BY deficit	Strong RG & moderate BY deficit
Refractive error	+0.75+0.50 × 10:	−7.75+1.50 × 108:	−10.50/+4.00 × 105:	−11.00 : −11.00	−8.50/+1.25 × 115:
(Right Eye : Left Eye)	+1.50	−7.75+1.50 × 70	−10.50/+4.00 × 75		−8.00/+1.00 × 70
Retinal exam (Both Eyes)	white dots ST arcade	Tilted disc; tessellated background; dull FR	Macular atrophy	Peripapillary atrophy; dull FR; peripheral lattice OD	Tilted disc; dull FR; peripheral lattice
Fundus Autofluorescence (Both Eyes)	Hypo AF along ST arcade; hyper AF dots periphery	NA	Foveal hyper-AF	Foveolar hypo AF; parafoveal hyper AF	Subtle foveal hyper AF
Optical Coherence Tomography (Both Eyes)	Normal CRT; ONL and OPL rosettes with thick and disorganized retina in mid-periphery	Normal CRT and lamination	Grade 1 FH; Mild disruption of OS in central sub-foveal region	Grade 1 FH; Mild disruption of OS in central sub-foveal region	Grade 1 FH; Mild disruption of OS in central sub-foveal region

AF, autofluorescence; BY, blue-yellow; CRT, central retinal thickness; FH, foveal hypoplasia; FR, foveal reflex; NA, not available; ONL, outer nuclear layer; OPL, outer plexiform layer; OS, outer segments; RG, red-green; ST, superotemporal.