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| Patient | Age at time of testing | Age of onset | Sex | Family history | Symptoms at time of diagnosis | BCVA
OD/OS
With refraction | Color vision
(15 desaturated Hue) | Binocular kinetic visual field
(III4e stimulus) | FF and mfERG | Fundus examination | FAF | Sd-OCT |
|
| F303: II.1 (CIC00445) | 42 | 6 | F | No other affected FM, from France. | Night blindness | Hand motion in both eyes | Impossible due to low vision | Reduced to peripheral islands of perception | Both undetectable | Pale optic disc narrowed blood vessels, macular atrophic changes, and optic nerve drusen | Hypoautofluorescence in the macular region | Thinning of outer retina in the macular region |
|
| F335: III.1 (CIC00491) | 36 | 3 | M | Two other brothers affected; parents first cousins | Night blindness and rapid decreased vision | LP in both eyes | Impossible due to low vision | Impossible due to low vision | Both undetectable | Widespread RPE changes and retinal atrophy in both the periphery and the macular area | Widespread loss of FAF | Widespread thinning of outer retina |
|
| F674: III.6 (CIC01106) | 25 | 19 | F | Parents first cousins from Turkey, one female and male cousins affected also from a consanguineous union | Night blindness and decreased vision | HM −3 (−1) 0°
20/160 −3 (−0.50) 0° | Dyschromatopsia with no specific axis | Reduced to 5 central degrees | Both undetectable | Well-colored optic disc and no narrowing of retinal vessels; RPE changes in the periphery and macular atrophic changes | Hypoautofluorescence in the macular region and outside the vascular arcades | Thinning of outer retina in the macular region |
|
| F752: II.1 (CIC01245) | 31 | Early teens | F | Two sisters affected | Night blindness | 20/63 plano (−3) 180°
20/50 plano (−1.75) 180° | Deutan defect on both eyes | Reduced to 10° × 20° | Both undetectable | Pale optic disc head, narrowed retinal vessels, and RPE changes in the periphery with some macular atrophic changes | Hypoautofluorescence in the macular region and outside the vascular arcades | Thinning of outer retina in the macular region |
|
| F782 II.5 (CIC01300) | 27 | 9 | M | Parents from Algeria, first cousins | Night blindness and decreased vision | 20/50 −9.25 (−2.50) 15°
20/50
−9 (−1.75) 100° | — | Reduced to the 10 central degrees | Both undetectable | Mild optic disc pallor, atrophic macular changes, and peripheral pigment deposits | Hypoautofluorescence in the macular region | Thinning of outer retina in the macular |
|
| F1941: III.1 (CIC04130) | 30 | childhood | F | Parents from Algeria, first cousins | Night blindness | 20/100 −4.25 (−1.25) 150°
20/80 −4.25 (−1.25) 150° | Normal at the saturated test | Reduced to the 10 central degrees | Both undetectable | Well-colored optic disc but narrowed retinal vessels; RPE changes in the periphery and macular atrophic changes | Hypoautofluorescence in the macular region and outside the vascular arcades | Thinning of outer retina in the macular region |
|
| F3110: III.5 (CIC05941) | 27 | 5 | F | One cousin on mother side may have RCD | Night blindness and decreased vision | 20/125 +2 (−2) 95°
20/125 +1.75 (−2) 70°c | Dyschromatopsia with no specific axis | Reduced to the 10 central degrees | Both undetectable | Pale optic disc, narrowed retinal vessels, and RPE changes in the periphery with some macular atrophic changes | Hypoautofluorescence in the macular region and outside the vascular arcades | Thinning of outer retina in the macular region |
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