目的:研究Schubert-Bornschein(S-B)先天性固定夜盲症(CSNB)的分子原因,详细的临床特征,并评估视网膜功能和结构的基因型-表型相关性。
方法:回顾性,纵向,单中心案例系列。
方法:122名在Moorfields眼科医院就诊的S-BCSNB患者,联合王国。
方法:所有案例说明,分子基因检测结果,和光学相干断层扫描(OCT)进行了审查。
方法:分子遗传学,提出投诉,眼球震颤的发生率,夜蛾,畏光,斜视,彩色视觉缺陷和球面折射误差(SER)。视网膜厚度,来自OCT成像的外核层厚度(ONL)和神经节细胞层+内网状层(GCL+IPL)厚度。
结果:鉴定了X连锁(CACNA1F和NYX)和常染色体隐性(TRPM1,GRM6,GPR179和CABP4)基因型。平均报告发病年龄为4.94±8.99岁。在随访期间,95.9%的患者报告视力(VA)下降,一半有眼球震颤,64.7%报告有夜视.不完全CSNB(iCSNB)患者更频繁地出现眼球震颤和畏光。iCSNB和完全CSNB(cCSNB)的近视相似。颜色视觉数据有限,但在iCSNB中发现了更多缺陷。这些临床差异均无统计学意义。VA组间无显著差异,平均值为0.46LogMAR,并在后续行动中保持稳定。cCSNB患者,特别是那些具有NYX和TRPM1变体的,更近视。CACNA1F患者的屈光变异性最大,CABP4患者为远视。随访期间OCT结构分析无明显差异。
结论:CSNB中的视网膜结构是固定的,没有发现特定的基因型-结构相关性。VA似乎相对稳定,罕见的进展情况。
OBJECTIVE: To examine the molecular causes of Schubert-Bornschein (S-B) congenital stationary night blindness (CSNB), clinically characterize in detail, and assess genotype-phenotype correlations for retinal function and structure.
METHODS: Retrospective, longitudinal, single-center case series.
METHODS: One hundred twenty-two patients with S-B CSNB attending Moorfields Eye Hospital, United Kingdom.
METHODS: All case notes, results of molecular genetic testing, and OCT were reviewed.
METHODS: Molecular genetics, presenting complaints, rates of nystagmus, nyctalopia, photophobia, strabismus, color vision defects and spherical equivalent refraction (SER). Retinal thickness, outer nuclear layer (ONL) thickness, and ganglion cell layer + inner plexiform layer (GCL+IPL) thickness from OCT imaging.
RESULTS: X-linked (CACNA1F and NYX) and autosomal recessive (TRPM1, GRM6, GPR179 and CABP4) genotypes were identified. The mean (± standard deviation) reported age of onset was 4.94 ± 8.99 years. Over the follow-up period, 95.9% of patients reported reduced visual acuity (VA), half had nystagmus, and 64.7% reported nyctalopia. Incomplete CSNB (iCSNB) patients more frequently had nystagmus and photophobia. Nyctalopia was similar for iCSNB and complete CSNB (cCSNB). Color vision data were limited but more defects were found in iCSNB. None of these clinical differences met statistical significance. There was no significant difference between groups in VA, with a mean of 0.46 logarithm of the minimum angle of resolution, and VA remained stable over the course of follow-up. Complete congenital stationary night blindness patients, specifically those with NYX and TRPM1 variants, were more myopic. CACNA1F patients showed the largest refractive variability, and the CABP4 patient was hyperopic. No significant differences were found in OCT structural analysis during the follow-up period.
CONCLUSIONS: Retinal structure in CSNB is stationary and no specific genotype-structure correlates were identified. Visual acuity seems to be relatively stable, with rare instances of progression.
BACKGROUND: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.