Genetic isolate and preserved para-arteriole retinal pigment epithelium

Preserved para-arteriole retinal pigment epithelium (PPRPE) is an uncommon form of retinitis pigmentosa, with a very peculiar funduscopic appearance. To our knowledge no patient under age ten, affected by PPRPE, has been reported in the literature. The authors present here a seven-year-old boy, whose fundus examination is consistent with the diagnosis of PPRPE. The case report confirms that PPRPE starts early in childhood, and additionally supports the hypothesis of an autosomal recessive inheritance of this condition, since the proband's family lives in a 'genetic isolate'.