Table 1

Summary of clinical findings in patients with KCNV2 related disease

Case	Age at examination	Visual acuity^*		Refraction	Ishihara colour vision test	Macular appearance on funduscopy	Autofluorescence (AF) imaging	Foveal appearance on SD-OCT
Case	Age at examination	OD	OS	Refraction	Ishihara colour vision test	Macular appearance on funduscopy	Autofluorescence (AF) imaging	Foveal appearance on SD-OCT
1	13	0.90	1.10	+5.00/−3.50×165 OD	Test plate only	Granular macular appearance	Abnormal foveal AF; small parafoveal ring of increased AF	Focal disruption of reflective band at IS/OS junction
1	13	0.90	1.10	+4.50/−3.50×10 OS	Test plate only	Granular macular appearance	Abnormal foveal AF; small parafoveal ring of increased AF	Focal disruption of reflective band at IS/OS junction
2	13	0.90	0.75	+1.50/+1.00×90 OD	Test plate only	Normal	Parafoveal area of mildly increased AF	Complete loss of photoreceptor layers in the fovea
2	13	0.90	0.75	+1.50/+1.25×90 OS	Test plate only	Normal	Parafoveal area of mildly increased AF	Complete loss of photoreceptor layers in the fovea
3	16	0.45	0.35	Myopic prescription	Test plate only	Subtle RPE mottling in the fovea	Parafoveal area of increased AF	Focal disruption of reflective band at IS/OS junction
4	18	0.25	0.25	Emmetropic	Test plate only	Granular macular appearance	Abnormal foveal AF; small parafoveal ring of increased AF	Focal disruption of reflective band at IS/OS junction
5	18	0.20	0.30	−8.50/−0.50×130 OD	Test plate only	Granular macular appearance	Parafoveal area of mildly increased AF	Focal disruption of reflective band at IS/OS junction
5	18	0.20	0.30	−7.00/−0.75×5 OS	Test plate only	Granular macular appearance	Parafoveal area of mildly increased AF	Focal disruption of reflective band at IS/OS junction
6	18	0.80	0.80	Emmetropic	Test plate only	Macular atrophy and flecks	Abnormal foveal AF; high density foci around the fovea	Optical gap in the fovea with absent IS/OS junction line
7	20	0.80	0.80	Emmetropic	3/17	Subtle RPE mottling in the fovea	Parafoveal area of increased AF	Small optical gap with disruption of reflective band at IS/OS junction
8	34	0.80	0.80	−12.00/−1.50×180 OD	Test plate only	RPE mottling in the fovea	Parafoveal area of increased AF	Focal disruption of reflective band at IS/OS junction
8	34	0.80	0.80	−12.50/−1.50×180 OS	Test plate only	RPE mottling in the fovea	Parafoveal area of increased AF	Focal disruption of reflective band at IS/OS junction
9	43	0.60	0.78	Emmetropic	Test plate only	Normal	Parafoveal area of increased AF	Focal disruption of reflective band at IS/OS junction
10	44	1.00	1.30	−2.75/−1.75×50 OD	Unable to see test plate	Macular atrophy	Central loss of AF	Complete photoreceptor layers loss; RPE layer loss
10	44	1.00	1.30	−5.50 OS	Unable to see test plate	Macular atrophy	Central loss of AF	Complete photoreceptor layers loss; RPE layer loss
11	44	0.50	0.80	−9.00/−2.00×180 OD	Test plate only	Subtle RPE mottling in the fovea	Central area of increased AF with surrounding area of reduced signal	Loss of photoreceptor layers in the fovea
11	44	0.50	0.80	−6.50/−2.00×5 OS	Test plate only	Subtle RPE mottling in the fovea		Loss of photoreceptor layers in the fovea
12	48	1.00	1.00	−3.00/−2.00×160 OD	2/17	Macular atrophy	Central atrophy surrounded by ring of increased AF	Complete photoreceptor layers loss; RPE layer loss
12	48	1.00	1.00	∞/−3.00×30 OS	2/17	Macular atrophy	Central atrophy surrounded by ring of increased AF	Complete photoreceptor layers loss; RPE layer loss

↵* LogMAR or logMAR equivalent.
IS/OS, inner segment/outer segment; OD, right eye; OS, left eye; RPE, retinal pigment epithelium; SD-OCT, spectral domain optical coherence tomography.