Piantanida A, Nucci P, Brancato R
Department of Ophthalmology and Visual Sciences, Scientific Institute S. Raffaele Hospital, University of Milan, Italy.
Ophthalmic Genet. 1994 Jun;15(2):95-8. doi: 10.3109/13816819409098869.
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'.
保存型视网膜动脉旁色素上皮（PPRPE）是色素性视网膜炎的一种罕见形式，具有非常独特的眼底表现。据我们所知，文献中尚未报道过10岁以下受PPRPE影响的患者。本文作者报告了一名7岁男孩，其眼底检查结果与PPRPE的诊断相符。该病例报告证实PPRPE在儿童早期发病，此外，由于先证者的家族生活在一个“遗传隔离群体”中，这也支持了该病常染色体隐性遗传的假说。
