La rétinopathie ponctuée albescente

Retinitis punctata albescens is a rare type of pigmentary retinopathy. It is usually transmitted as an autosomal recessive trait. It is caused, in the majority of the cases, by one mutation in the RLBP1 gene. It shows the same clinical features of a classic pigmentary retinopathy and it is characterized by the presence of many white spots at the level of the pigment epithelium strewn over the retinal receptive field. Electroretinogram also showed scotopic system involvement with total extinction at an advanced stage. Currently, researches, expecially genetic engineering, are booming to improve the visual prognosis in patients with this syndrome. We report the case of a 16 years old boy whose parents are consanguineous, presenting with night blindness. Ophthalmologic examination showed visual acuity 10/10 P2 on both eyes; anterior segment exam was normal. Fundus examination revealed many disseminated whitish spots. Electrophysiological explorations confirmed the diagnosis of retinitis punctata albescens.