A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female

• Published in: Ophthalmic genetics 2021-04, Vol.42 (2), p.204-208
• Main Authors: Magliyah, Moustafa, Alsalamah, Abrar K, AlOtaibi, Majeedah, Nowilaty, Sawsan R
• Format: Article
• Language: English
• ISSN: 1381-6810; 1744-5094
• DOI: 10.1080/13816810.2020.1843185

: Gyrate atrophy of the choroid and retina (GA) is a rare autosomal recessive disorder characterized by nyctalopia, myopia, sharply demarcated expanding peripheral chorioretinal atrophic lesions, early cataract, progressive visual loss and hyperornithinemia. Only three cases of GA associated with rhegmatogenous retinal detachments (RRD) have been reported. The genotype-phenotype correlation of RRD in GA is limited by lack of genetic information in the previously reported cases. Here we report two young sisters with a characteristic GA phenotype associated with a novel variant in the ornithine aminotransferase gene ), in whom one developed unilateral RRD at the age of 9 years. : Retrospective report of two cases including genetic analysis and multimodal retinal imaging. : A 9-year-old Saudi girl presented with a funnel-shaped RRD, extensive proliferative vitreoretinopathy, peripheral choroidal detachment and neovascular glaucoma in her right eye. Fundus examination of her left eye showed an attached retina with sharply-demarcated peripheral chorioretinal atrophic patches suggestive of GA. Whole exome sequencing confirmed GA by revealing a homozygous c.980 C > G (p. Pro327Arg) variant in exon 8 of . The RRD was inoperable. The chorioretinal lesions in the left eye enlarged slowly over 3 years of follow up. Examination of the proband's older sister revealed a similar but more advanced GA phenotype in both eyes. : A characteristic GA phenotype associated with a novel variant in is reported. This variant might be associated with childhood-onset RRD in the proband.