Institute of Ophthalmology, University of Modena and Reggio Emilia, Modena, Italy.
Department of Ophthalmology, Columbia University, New York, NY.
Mol Vis. 2021 Feb 5;27:78-94. eCollection 2021.
To describe clinical and genetic features in a series of Italian patients with sector retinitis pigmentosa (sector RP).
Fifteen patients with sector RP were selected from the database of Hereditary Retinal Degenerations Referring Center of Careggi Hospital (Florence, Italy). Eleven patients from five independent pedigrees underwent genetic analysis with next-generation sequencing (NGS) confirmed with Sanger sequencing. The diagnosis of sector RP was based on the detection of topographically limited retinal abnormalities consistent with corresponding sectorial visual field defects. Best-corrected visual acuity (BCVA), fundus color pictures as well as fundus autofluorescence (FAF), spectral domain-optical coherence tomography (SD-OCT), full-field electroretinography (ERG), and 30-2 Humphrey visual field (VF) data were retrospectively collected and analyzed.
For the 30 eyes, the mean BCVA was 0.05 ± 0.13 logMAR, and the mean refractive error was -0.52 ± 1.89 D. The inferior retina was the most affected sector (86.7%), and the VF defect corresponded to the affected sector. FAF showed a demarcation line of increased autofluorescence between the healthy and affected retina, corresponding on SD-OCT to an interruption of the ellipsoid zone (EZ) band in the diseased retina. Dark-adapted ERG amplitudes were decreased in comparison to normative values. In five unrelated families, the sector RP phenotype was associated with sequence variants in the gene. The same mutation c.568G>A p.(Asp190Asn) was found in nine patients of four families.
Typical sector RP is a mild form of RP characterized by preserved visual acuity with limited retinal involvement and, generally, a more favorable prognosis than other forms of RP.
描述一系列意大利扇形部视网膜色素变性（sector RP）患者的临床和遗传特征。
从佛罗伦萨 Careggi 医院遗传性视网膜退行性疾病转诊中心的数据库中选择了 15 名扇形部 RP 患者。来自五个独立家系的 11 名患者接受了下一代测序（NGS）的基因分析，并通过 Sanger 测序进行了确认。扇形部 RP 的诊断基于检测与相应扇形视野缺陷一致的局灶性视网膜异常。回顾性收集和分析最佳矫正视力（BCVA）、眼底彩色照片以及眼底自发荧光（FAF）、谱域光学相干断层扫描（SD-OCT）、全视野视网膜电图（ERG）和 30-2 Humphrey 视野（VF）数据。
对于 30 只眼睛，平均 BCVA 为 0.05 ± 0.13 logMAR，平均屈光不正为-0.52 ± 1.89 D。下部视网膜是受影响最严重的扇形区（86.7%），VF 缺陷与受影响的扇形区相对应。FAF 在健康和受影响的视网膜之间显示出一个高自发荧光的分界线，在 SD-OCT 上对应于病变视网膜中椭圆体带（EZ）的中断。暗适应 ERG 振幅与正常值相比降低。在五个无关联的家庭中，扇形部 RP 表型与 基因中的序列变异相关。四个家庭的 9 名患者中发现了相同的突变 c.568G>A p.(Asp190Asn)。
典型的扇形部 RP 是一种轻度的 RP 形式，其特征是视力保存、视网膜受累有限，通常比其他形式的 RP 预后更好。
