Harvard Medical School Department of Ophthalmology, Retina Service, Massachusetts Eye and Ear, Boston, Massachusetts, USA.
Ophthalmic Genet. 2024 Dec;45(6):640-645. doi: 10.1080/13816810.2024.2371875. Epub 2024 Aug 15.
Variants in the gene cause a phenotype to be included in the spectrum of congenital stationary night blindness, though some reports suggest that the clinical abnormalities are more accurately categorized as a synaptic disease of the cones and rods. We report a novel homozygous nonsense variant in in a patient complaining of non-progressive reduced visual acuity and photophobia but not nyctalopia.
Complete ocular examination, fundus photographs, autofluorescence, optical coherence tomography, electroretinography, and targeted sequencing of known inherited retinal disease-associated genes.
A 25-year-old man monitored for 13 years complains of a lifelong history of stable reduced visual acuity (20/150), impaired color vision (1 of 14 plates), small-amplitude nystagmus, and photophobia without nyctalopia. He is also hyperopic (+7D), and his electroretinography shows significantly reduced rod and cone responses. Targeted genetic analysis revealed a novel homozygous variant in the gene at c.181C>T, p. (Gln61*) underlying his clinical presentation.
A novel variant in is associated with stationary cone and rod dysfunction resulting in decreased acuity, color deficit, and photophobia, but not nyctalopia.
基因中的变异会导致一种表型被纳入先天性静止性夜盲症的范畴，尽管有一些报告表明，临床异常更准确地归类为视锥和视杆的突触疾病。我们报告了一名患者中 的一个新的纯合无义变异，该患者抱怨非进行性视力下降和畏光，但没有夜盲。
全面眼部检查、眼底照相、自发荧光、光学相干断层扫描、视网膜电图和已知遗传性视网膜疾病相关基因的靶向测序。
一名 25 岁的男性被监测了 13 年，他抱怨终生稳定的视力下降（20/150）、色觉受损（14 个盘子中的 1 个）、小幅度眼球震颤和畏光但没有夜盲。他还有远视（+7D），视网膜电图显示视杆和视锥反应明显降低。靶向基因分析显示，该患者在 基因的 c.181C>T 处存在一个新的纯合无义变异，导致 p. (Gln61*)。
基因中的一个新变异与静止性视锥和视杆功能障碍有关，导致视力下降、色觉缺陷和畏光，但没有夜盲。
