Table 1.

Clinical characteristics of patients.

Patient, Sex	Symptoms	BCVA at First Visit	Refraction	Anterior Segment	Fundus	Colour Vision	Visual Field	ffERG	SWAF	SD-OCT
IA-CIC08269, F	Night vision difficulties since 6 y.o. Bilateral decreased visual acuity	RE: 20/50 LE: 20/50 7 y.o.	+1.0(−1.5)10° +1.0(−1.5)175°	Normal	Normal optic discs Mild vascular narrowing Dark fovea, yellowish deposit with indistinct borders surrounding the fovea Whitish spots of chorio-retinal atrophy and coarse pigmentary migration in peripheral retina	Tritan defect	Kinetic perimetry: V4e: 145° horizontal and 120° vertical III1e: constricted to 5° I1e: not perceived OU	Undetectable scotopic- and photopic responses	Very narrow ring of increased autofluorescence	Outer retinal layers (EZ, ONL) disappearance outside the fovea
XZ-358338, M	Progressive visual loss since teens, Photophobia from age 36 y.o.	RE: 20/50 LE: 20/40 36 y.o.	−12.5(−2.0)0° −12.0(−3.0)160°	Phakic IOL implanted at 36 y.o.	Normal discs Peripapillary atrophy (conus myopicus) Mild arteriolar narrowing Dark round atrophic lesion of the macula with indistinct borders Normal peripheral retina	Tritan defect	Static perimetry: Absolute central scotoma of 5° surrounded by a ring of reduced sensitivity OU	Generalized cone-rod dysfunction (scotopic responses 70% of normal amplitude and photopic responses 25% of normal amplitude)	Salt and pepper round macular lesion with hyperautofluorescent edges Normal autofluorescence in the peripheral retina	Dome-shaped macula Outer retinal layers (EZ, ONL) disappearance in the macula; normal aspect outside the macular lesion
IM-4476, M	Progressive visual acuity loss since childhood, Photophobia and rapid visual acuity loss since 42 y.o.	RE:20/100 LE: 20/50 46 y.o.	−6.25(−3.0)170° −6.0(−3.50)35°	Normal	Normal discs Chorioretinal thinning between the macula and optic disc Yellowish atrophic round macular lesion Normal peripheral retina	Severe dyschromatopsia	V4e: 150° horizontal and 120° vertical II4e: 90° horizontal and 60° vertical I4e not perceived OU	Severe generalized cone system dysfunction with normal rod system function	Round foveal hypoautofluorescent lesion with irregular hyperautofluorescent edges	Foveal disappearance of outer retinal layers (EZ, ONL)
HD-2011304, M	Night vision disturbances since his forties Photophobia and rapid visual acuity loss since 45 y.o.	RE:20/63 LE:20/50 48 y.o.	-6.75(−3.50)80° −9.50(−3.50)110°	Normal	Normal disc Peripapillary atrophy (conus myopicus) Mild arteriolar narrowing Dark foveal spot surrounded by ovoid zone of macular discoloration Normal peripheral retina	Tritan defect	V4e: 100° horizontal and 90° vertical V4e central scotoma of 15°	Generalized cone-rod dysfunction (scotopic responses 50% of normal amplitude, photopic responses 30% of normal amplitude)	Foveal hyperautofluorescent spot surrounded by a round hypoautofluorescent area with hyperautofluorescent edges Macular lesion is continuous with the peripapillary atrophy	Perifoveal disappearance of outer retinal layers (EZ, ONL) Foveal sparing of EZ
EB-163150, M	Progressive visual acuity loss from teens Photophobia since childhood, became disabling from thirties	RE: 20/80 LE: 20/80 70 y.o.	−6.0(−1.0)40° −7.0(−0.75)165°	Cortico-nuclear and posterior subcapsular cataract OU	Normal disc Peripapillary atrophy (conus myopicus) Mild arteriolar narrowing Round macular discoloration	Tritan defect	V4e: 140° horizontal and vertical V1e: central scotoma of 15° Humphrey 10-2: sparing of fixation point, absolute annular scotoma at 5° of eccentricity surrounded by a relative deficit	Severe cone system dysfunction with only residual photopic responses while scotopic responses were normal	Perifoveal hyperautofluorescent ring with indistinct edges	Perifoveal disappearance of outer retinal layers (EZ, ONL) Foveal sparing of EZ

BCVA—best corrected visual acuity, EZ—ellipsoid zone, ONL—outer nuclear layer, OU—both eyes, NA—Not applicable, SWAF—short wave fundus autofluorescence, SD-OCT—spectral domain optical coherence tomography, ffERG—full-field electroretinography.