PDF(Pubmed)
Abstract：
UNASSIGNED: The purpose of this study was to analyze the clinical spectrum and natural history of CDH23-associated Usher syndrome type ID (USH1D).
UNASSIGNED: Molecularly-confirmed individuals had data extracted from medical records. Retinal imaging was extracted from an in-house database. The main outcome measurements were retinal imaging and electroretinography (ERG) and clinical findings, including age of onset, symptoms, best-corrected visual acuity (BCVA), outer nuclear layer (ONL) thickness, ellipsoid zone width (EZW), and hyperautofluorescent ring area.
UNASSIGNED: Thirty-one patients were identified, harboring 40 variants in CDH23 (10 being novel). The mean (range, ±SD) age of symptom onset was 10.1 years (range = 1-18, SD = ±4.1). The most common visual symptoms at presentation were nyctalopia (93.5%) and peripheral vision difficulties (61.3%). The mean BCVA at baseline was 0.25 ± 0.22 in the right eyes and 0.35 ± 0.58 LogMAR in the left eyes. The mean annual loss rate in BCVA was 0.018 LogMAR/year over a mean follow-up of 9.5 years. Individuals harboring the c.5237G>A p.(Arg1746Gln) allele had retinitis pigmentosa (RP) sparing the superior retina. Seventy-seven percent of patients had hyperautofluorescent rings in fundus autofluorescence. Full-field and pattern ERGs indicated moderate-severe rod-cone or photoreceptor dysfunction with relative sparing of macular function in most patients tested. Optical coherence tomography (OCT) revealed intraretinal cysts in the transfoveal B-scan of 13 individuals (43.3%). The rate of EZW and ONL thickness loss was mild and suggestive of a wide window of macular preservation.
UNASSIGNED: Despite the early onset of symptoms, USH1D has a slowly progressive phenotype. There is high interocular symmetry across all parameters, making it an attractive target for novel therapies.
UNASSIGNED: Molecularly-confirmed individuals had data extracted from medical records. Retinal imaging was extracted from an in-house database. The main outcome measurements were retinal imaging and electroretinography (ERG) and clinical findings, including age of onset, symptoms, best-corrected visual acuity (BCVA), outer nuclear layer (ONL) thickness, ellipsoid zone width (EZW), and hyperautofluorescent ring area.
UNASSIGNED: Thirty-one patients were identified, harboring 40 variants in CDH23 (10 being novel). The mean (range, ±SD) age of symptom onset was 10.1 years (range = 1-18, SD = ±4.1). The most common visual symptoms at presentation were nyctalopia (93.5%) and peripheral vision difficulties (61.3%). The mean BCVA at baseline was 0.25 ± 0.22 in the right eyes and 0.35 ± 0.58 LogMAR in the left eyes. The mean annual loss rate in BCVA was 0.018 LogMAR/year over a mean follow-up of 9.5 years. Individuals harboring the c.5237G>A p.(Arg1746Gln) allele had retinitis pigmentosa (RP) sparing the superior retina. Seventy-seven percent of patients had hyperautofluorescent rings in fundus autofluorescence. Full-field and pattern ERGs indicated moderate-severe rod-cone or photoreceptor dysfunction with relative sparing of macular function in most patients tested. Optical coherence tomography (OCT) revealed intraretinal cysts in the transfoveal B-scan of 13 individuals (43.3%). The rate of EZW and ONL thickness loss was mild and suggestive of a wide window of macular preservation.
UNASSIGNED: Despite the early onset of symptoms, USH1D has a slowly progressive phenotype. There is high interocular symmetry across all parameters, making it an attractive target for novel therapies.
摘要：
■这项研究的目的是分析CDH23相关的Usher综合征ID型（USH1D）的临床谱和自然史。
■分子确认的个体从医疗记录中提取了数据。视网膜成像是从内部数据库中提取的。主要结果测量为视网膜成像和视网膜电图（ERG）和临床表现，包括发病年龄,症状,最佳矫正视力（BCVA），外核层（ONL）厚度，椭球区宽度(EZW),和高自发荧光环区。
■确定了31名患者，在CDH23中有40个变体（10个是新的）。平均值(范围，±SD）症状发作年龄为10.1岁（范围=1-18，SD=±4.1）。出现时最常见的视觉症状是夜视（93.5％）和周围视力困难（61.3％）。基线时右眼的平均BCVA为0.25±0.22，左眼为0.35±0.58LogMAR。平均随访9.5年，BCVA的年平均损失率为0.018LogMAR/年。具有c.5237G>Ap的个体。（Arg1746Gln）等位基因的视网膜色素变性（RP）保留了上视网膜。77％的患者在眼底自发荧光中有高自发荧光环。在大多数接受测试的患者中，全视野和模式ERGs表明中度-重度棒锥或光感受器功能障碍，相对保留黄斑功能。光学相干断层扫描（OCT）在13例（43.3％）的跨中心凹B扫描中发现了视网膜内囊肿。EZW和ONL厚度损失的速率是温和的,并且暗示黄斑保留的宽窗口。
■尽管早期出现症状，USH1D具有缓慢进展的表型。所有参数都有高度的眼间对称性，使其成为新疗法的有吸引力的目标。
■分子确认的个体从医疗记录中提取了数据。视网膜成像是从内部数据库中提取的。主要结果测量为视网膜成像和视网膜电图（ERG）和临床表现，包括发病年龄,症状,最佳矫正视力（BCVA），外核层（ONL）厚度，椭球区宽度(EZW),和高自发荧光环区。
■确定了31名患者，在CDH23中有40个变体（10个是新的）。平均值(范围，±SD）症状发作年龄为10.1岁（范围=1-18，SD=±4.1）。出现时最常见的视觉症状是夜视（93.5％）和周围视力困难（61.3％）。基线时右眼的平均BCVA为0.25±0.22，左眼为0.35±0.58LogMAR。平均随访9.5年，BCVA的年平均损失率为0.018LogMAR/年。具有c.5237G>Ap的个体。（Arg1746Gln）等位基因的视网膜色素变性（RP）保留了上视网膜。77％的患者在眼底自发荧光中有高自发荧光环。在大多数接受测试的患者中，全视野和模式ERGs表明中度-重度棒锥或光感受器功能障碍，相对保留黄斑功能。光学相干断层扫描（OCT）在13例（43.3％）的跨中心凹B扫描中发现了视网膜内囊肿。EZW和ONL厚度损失的速率是温和的,并且暗示黄斑保留的宽窗口。
■尽管早期出现症状，USH1D具有缓慢进展的表型。所有参数都有高度的眼间对称性，使其成为新疗法的有吸引力的目标。
