Table 2. Clinical features of the four families genetically characterized in the present study.
All the ages are expressed in years. adRP = autosomal dominant retinitis pigmentosa, DOB = date of birth, BE = both eyes, ERG = Electroretinogram, HM = High myopia, LE = left eye, LORD = Late Onset Retinal Dystrophy, LP = Light perception, MA = myopic astigmatism, MD = macular degeneration, MM = myopic maculopathy, NA = not available, NB = night blindness, NR = Non recordable, RE = right eye, RP = retinitis pigmentosa; RPE = Retinal pigment epithelium, VA = visual acuity, VEP = visual evoked potentials, VF = visual field, xlRP = X-linked retinitis pigmentosa.
| Family | Subject | Revised diagnosis | Age at diagnosis | Age at onset | Age at time of testing | Visual field | Eye fundus | ERG | Visual acuity | Other |
|---|---|---|---|---|---|---|---|---|---|---|
| (Gene) | (DOB) | NB/VF/VA | RE/LE | |||||||
| RP-0107 | III:2 (1915) | adRP | NA | 12/40/35 | NA | NA | NA | NA | NA | Myopia (18y) and cataract |
| (PRPH2) | III:6 (1924) | adRP | 14 | 12/14/62 | 63 | Absolute scotoma | Typical RP with macular alteration | NA | NA | Cataract (55y) |
| IV:3 (1950) | adRP | NA | 40/40/40 | NA | NA | Salt-and-pepper pigmentation | NA | NA | ||
| V:3 (1976) | adRP | NA | NA | NA | NA | Salt-and-pepper pigmentation | NA | NA | ||
| V:4 (1980) | adRP | 17 | 13/16/20 | 17 | Diffuse relative scotoma | Salt-and-pepper pigmentation | NA | 0.7/0.8 | Dyschromatopsia | |
| RP-0777 | II:4 (1966) | adRP | NA | NA | 32 | Peripheral constriction | Typical RP, no macular affectation in BE | Reduced amplitudes typical of bilateral retinopathy | 1.0/1.0 | |
| (PRPF31) | III:1 (1934) | adRP | 32 | 27/32/NA | 79 | Tubular field | Normal vessels and papilla, peripapillar atrophy 360°. No pigmentary lessions in BE | Rods: minimum reduced amplitude and increment of latencies; mix: minimum reduced amplitude in a wave and increment latencies in a and b waves; cones: minimum reduced amplitude b wave and minimum increment latencies in waves; flicker: normal in BE | 0.7/0.8 | |
| RP-0858 | III:4 (1947) | xlRP | 43 | 08/08/08 | 44 | Concentric narrowing | Pale papilla, attenuated retinal vessels, peripheral pigment deposits in BE | NR BE | FC/LP | HM and PSC and altered VEP in BE (56y) |
| (RPGR) | III:6 (1943) | xlRP | NA | NA | NA | NA | NA | NA | Glaucoma | |
| IV:6 (1965) | xlRP | 31 | 3/23/3 | 31 | Severe concentric narrowing in BE | Typical RP | NR BE | FC/0.4 | Strabismus, amblyopia RE, and myopia LE | |
| IV:8 (1966) | xlRP | 37 | NA | 45 | Severe concentric narrowing in BE | Typical RP | NA | 0.2/0.1 | MM (BE) | |
| IV:9 (1969) | xlRP | 35 | Childhood | 37 | Severe concentric narrowing in BE | Pale papilla, attenuated retinal vessels, macular affectation in BE | Diffuse and severe impairment but not abolished | 0.15/0.15 | HM, MA, MM | |
| IV:10 (1974) | xlRP | 35 | NA | NA | NA | NA | NA | 0.8/0.8 | HM, MM (BE) | |
| V:2 (1998) | xlRP | 14 | NA | NA | Severely affected | Typical RP | NA | 0.5/0.5 | MA | |
| V:3 (1996) | xlRP | 14 | NA | 14 | NA | NA | NA | NA | NA | |
| RP-0911 | III:7 (1925) | LORD | 60 | 43/43/40 | 67 | NA | Macular atrophy and bone spicules in periphery | NA | 0.5/0.2 | Cataract (67y) |
| (C1QTNF5) | IV:1 (1946) | LORD | 54 | 54/54/No | 66 | Central scotome | Normal papilla, RPE macular atrophy, no pigment | Rods and cones: abnormal amplitudes | 0.8/0.8 | |
| IV:6 (1946) | LORD | NA | 61/61/61 | 67 | Central scotome nasal superior | RPE macular atrophy and hipopigmentary rounded areas | Rods: NR, mix: very reduced amplitudes cones and flicker: reduced amplitudes BE | 0.1/0.4 | Cataract (63y) | |
| IV:10 (1952) | LORD | 59 | 59/No/No | 62 | Normal | Macular drusen | Normal | 0.9/1 | ||
| IV:11 (1956) | LORD | 60 | 60/60/60 | 60 | Central scotome | RPE macular atrophy, bone spicules in periphery | Rods: very reduced amplitude in b wave; mix and cones: reduced amplitude in a and b waves; cones: reduced amplitude in a and b waves, flicker: reduced amplitude in b wave BE | 0.5/0.2 | Cataract (56y) | |
| V:1 (NA) | LORD | NA | NA | NA | NA | NA | NA | NA | NA |