Pigmented paravenous retinochoroidal atrophy caused by VPS13B gene mutations: a case report

Abstract

Abstract Background This study utilizes multimodal imaging to detail a case of pigmented paravenous retinochoroidal atrophy (PPRCA) with a unique genetic backdrop: compound heterozygous mutations in the VPS13B gene. Case presentation A 17-year-old male patient presented to our clinic with a chief complaint of bilateral blurred vision persisting for a duration of 2 years. Funduscopic findings showed retinochoroidal atrophy along the retinal veins, bone-spicule retinal pigmentations, and waxy optic disc pallor. Asymmetrical fundus appeared in both eyes. The patient's father had a history of retinitis pigmentosa (RP). Whole-exome sequencing performed on the patient, complemented by Sanger sequencing of his parents' samples, validated the identified variants. The patient inherited a VPS13B c.10691T>C mutation from his mother and a VPS13Bc.1457T>G mutation from his father. Considering the typical clinical features, ophthalmic examination, and genetic analysis, he was diagnosed with PPRCA. Conclusions To our knowledge, this is the first reported case of PPRCA resulting from compound heterozygous mutations in the VPS13B gene. It is necessary to perform genomic sequencing on more PPRCA patients to explore the impact of genetic factors on the onset of PPRCA.