Tan Wendy D, Odom J Vernon, Leys Monique
Department of Ophthalmology and Visual Sciences, West Virginia University School of Medicine, Morgantown, WV 26506, USA.
J Clin Med. 2023 Nov 7;12(22):6960. doi: 10.3390/jcm12226960.
This case report presents a 26-year-old female patient diagnosed with fundus albipunctatus (FAP), a rare form of congenital stationary night blindness. The patient's clinical history and retinal findings spanning 23 years are consistent with FAP. The patient has profound night blindness, photophobia, and mild color vision changes with preserved best-corrected visual acuity (BCVA). Small white dots are present throughout the fundus, sparing the central macula. Electroretinograms (ERG) are consistent with congenital stationary night blindness (CSNB) and suggest a lack of rod response. Ophthalmic imaging has remained stable over time. Genetic testing revealed two biallelic missense mutations in the LRAT gene, c.197G>A (p.Gly66Glu) and c.557A>C (p.Lys186Thr). LRAT mutations are known to contribute to other retinal conditions but have not been previously associated with FAP. While there are currently no available treatments for FAP, this report expands our understanding of the genetic landscape of FAP to include LRAT and provides clinical data to support this finding.
本病例报告介绍了一名26岁的女性患者，被诊断患有白点状眼底（FAP），这是一种罕见的先天性静止性夜盲症。该患者长达23年的临床病史和视网膜检查结果与FAP相符。患者有严重的夜盲症、畏光症状，以及轻微的色觉改变，最佳矫正视力（BCVA）保持正常。整个眼底可见小白点，黄斑中心未受影响。视网膜电图（ERG）与先天性静止性夜盲症（CSNB）相符，提示缺乏视杆细胞反应。眼科成像随时间推移保持稳定。基因检测显示LRAT基因存在两个双等位基因错义突变，即c.197G>A（p.Gly66Glu）和c.557A>C（p.Lys186Thr）。已知LRAT突变会导致其他视网膜疾病，但此前尚未与FAP相关联。虽然目前尚无针对FAP的有效治疗方法，但本报告扩展了我们对FAP遗传格局的认识，将LRAT纳入其中，并提供了支持这一发现的临床数据。
