Abstract
Purpose::
To describe two Usher syndrome families in which patients showed an albescent form of retinitis pigmentosa.
Methods::
Patients had routine ophthalmological examination as well as funduscopy, autofluorescence imaging, OCT-3 scan and ERG testing.
Results::
One sporadic case was a French 24 year-old woman with moderate congenital symmetric sensorineural hearing loss. She had 10/10 visual acuity on both eyes. Fundus showed large whitish spots spreading over the vascular arcuades and extending until the equator where the spots took a more dot-like appearance. They were only a few bone spicule shaped pigment deposits. An epiretinal membrane was also present in the macula. Two other cases were a 52 year-old woman and a 48 year-old man from the same sibship of Spanish origin. Both had congenital symmetric severe deafness and a decreased visual acuity (0.5/10 to 2/10). The fundus of the female patient showed many whitish spots covering the mid periphery, with few pigment deposits and retinal atrophy of the foveomacular area. Her affected younger brother displayed similar features in peripheral retina, with the whitish spots being coalescent around the macular area to form a large continuous deposit.
Conclusions::
The large whitish spots are clearly different from the punctuate deposits observed in retinitis punctata albescens (RLBP1 mutations) and in fundus albipunctatus (RDH5 mutations). The presence of the same deposits in the brother and sister suggests that they could be genetically determined, as for example, an allelic form of Usher syndrome or a new gene. Genetic studies are currently underway.
Keywords: retinitis • genetics • retinal degenerations: hereditary