Department of Ophthalmology, University of Ferrara, Ferrara, Italy.
Curr Genomics. 2011 Jun;12(4):250-9. doi: 10.2174/138920211795860125.
The term retinitis pigmentosa (RP) indicates a heterogeneous group of genetic rare ocular diseases in which either rods or cones are prevalently damaged. RP represents the most common hereditary cause of blindness in people from 20 to 60 years old. In general, the different RP forms consist of progressive photo-receptorial neuro-degenerations, which are characterized by variable visual disabilities and considerable socio-sanitary burden. Sometimes, RP patients do not become visually impaired or legally blind until their 40-50 years of age and/or maintain a quite acceptable sight for all their life. Other individuals with RP become completely blind very early or in middle childhood. Although there is no treatment that can effectively cure RP, in some case-series the disease's progression seems to be reducible by specific preventive approaches. In the most part of RP patients, the quality of vision can be considerably increased by means of nanometer-controlled filters. In the present review, the main aspects of the routine clinical and rehabilitative managements for RP patients are described, particularly focusing on the importance of specific referral Centers to practice a real multidisciplinary governance of these dramatic diseases.
视网膜色素变性(RP)是一组异质性的遗传性罕见眼病,主要累及视杆细胞或视锥细胞。RP 是 20 至 60 岁人群中最常见的致盲遗传性眼病。一般来说,不同类型的 RP 均表现为进行性光感受器神经退行性变,其特征为视力障碍的程度不同,给社会带来的负担也不同。有些 RP 患者直到 40 至 50 岁才出现视力损害或法定失明,或者终生保持相当好的视力。其他患者则在童年中期或更早失明。虽然目前尚无有效的治疗方法,但在某些病例系列研究中,特定的预防措施似乎可以减缓疾病的进展。在大多数 RP 患者中,纳米级控制滤光器可以显著提高视力质量。本文主要描述了 RP 患者的常规临床和康复管理的主要方面,尤其强调了建立专门转诊中心的重要性,以便对这些严重疾病进行真正的多学科管理。