Table 1 of Bouzidi, Mol Vis 2021; 27:17-25.
Patient | RP1.03 | RP2.03 | RP3.03 |
---|---|---|---|
Age | 17 | 13 | 23 |
Age at diagnosis | 12 | 9 | 21 |
First symptoms | Night-blindness, difficulty to perceive side objects | Night-blindness, difficulty to perceive side objects | Night-blindness |
Consanguinity | No | First cousins | Second cousins |
Visual field | Not done | Not done | Severe impairment of the entire visual field with the persistence of tubular vision in both eyes |
ERG | Flat traces | Flat traces | Flat traces |
Fundus imaging | Not done | Not done | Grayish white aspect in the retinal periphery, slightly pale papilla on the temporal area and decreased retinal vessel size |
Auto- fluorescence imaging | Not done | Large hypo-fluorescence region in the central area and hyper-autofluorescence in the inferior area of the optic nerve head | Discrete hyper-autofluorescence ring surrounding the macular area, large hypo-autofluorescence area in the peripheral retina and narrowed retinal vessels. |
Macular OCT | Not done | Cystoid macular edema, central thickness of 499µm in right eye and 512µm in left eye | Relative preservation of the foveal structure, disorganization of the ellipsoid zone in the perifovea in both eyes, and epiretinal membrane formation |