Unlike previously reported families, the PRPF8 gene mutation in our family is associated with a mild phenotype in which cone function is partially preserved.

Ocular signs associated with a rhodopsin mutation (Cys-167→Arg) in a family with autosomal dominant retinitis pigmentosa EDITOR,-Retinitis pigmentosa (RP) comprises a group of hereditary progressive retinal degenerative conditions characterised by typical fundus alterations, loss in visual field, and severely reduced or unrecordable electroretinograms (ERG) The first reported disease related mutations in the human rhodopsin gene, described in 1990 by Dryja et al, 1 was a heterozygous C→A tranversion in the second nucleotide of codon 23. Since than many further mutations has been identified to a current total of about 90. Here we describe, for the first time in the literature, the clinical phenotype associated with a Cys-167→Arg mutation (TGC→CGC in exon 2) in an Italian family aVected by autosomal dominant retinitis pigmentosa (ADRP). The same mutation was noted by Dryja et al, 3 but there has been no report of correlated clinical data. CASE REPORTFour patients (see Fig 1) of a family from the Campania region of southern Italy, have been studied. Patient II-1The patient, a 45 year old woman, had central visual acuity 20/50 in both eyes with −3 −3 × 180°in right eye and −4 −2.50 × 180°in left. Nascent posterior subcapsular cataract and vitreous corpuscles were present. Fundus examination revealed waxy optic disc pallor, attenuated retinal vessels, atrophic retinal pigment epithelium (RPE), and bone spicules in the middle periphery on 360° (Fig 2). Goldmann kinetic visual field examination showed a concentric isoptere shrinkage up to 10°in the centre in each eye (I,4 and II,4). No peripheral vision island was observed. Goldmann-Weekers adaptoperimetry showed a high depression of the photopic and scotopic curve in both eyes. Electroretinography showed no photopic and scotopic curve. Acromatopsy was found in the colour test. Patient III-1This patient, a 11 year old male had central visual acuity 20/25 in both eyes with +1 −3 × 180°in the right and left eye. Fundus examination showed a rose coloured optical disc, attenuated retinal vessels, an atrophic RPE area over 360°, and a very rare osteoblast pigment clusters in the peripheral. The Goldmann visual field examination using I and 4, II and 4 mires showed mild concentric shrinkage of the peripheral isoptres. GoldmannWeekers adaptoperimetry showed a mild depression of the scotopic and photopic curve in both eyes. ERG gave microvoltage photopic graphs with implicit wave periodicity of 40.60 ms and implicit b wave periodicity of 58 ms; the diVerential width was 3.921 µV. The scotopic ERG was extinguished in both eyes. The colour test was normal. Patient III-2This patient, a 8 year old male showed a corrected visus 20/25 in both eyes with +1.50 × 100°in the right and left eye. The fundus, Goldmann visual field and the GoldmannWeekers adaptoperimetry examination are similar to the patient III-1. ERG showed a microvoltage photopic graph with implicit time of the a wave equal to 32 ms and implicit time of the b wave equal to 52.20 ms, with a diVerential width of 10.75 µV...