Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature

• Published in: Ophthalmic genetics p. 1
• Main Authors: Eskander, Jessica, Allen, Ariana, Yi Zhou, Xiao, El-Dairi, Mays, Maldonado, Ramiro S
• Format: Journal Article
• Language: English
• Published: England 21.11.2024
• Subjects: Galloway-Mowat syndrome; WDR73; retinal dystrophy in systemic disorder; retinal dysfunction
• ISSN: 1744-5094
• DOI: 10.1080/13816810.2024.2426575

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder classically characterized by central nervous system and renal abnormalities. Optic atrophy has been reported as a common ophthalmic feature, and other characteristics, including nystagmus, strabismus, oculomotor apraxia, and retinopathy have been reported; however, data on retinal involvement and dysfunction is limited. In this case report, we aim to describe retinal findings in a female adolescent diagnosed with GAMOS due to a homozygous variant in the gene. A comprehensive ophthalmologic examination, including dilated fundus examination, fundus photography, electroretinogram (ERG), and optical coherence tomography (OCT), was performed. Systemic findings were obtained from medical records. The patient's visual testing was significant for oculomotor apraxia, large angle esotropia, and cross fixation. On fundus examination, bilateral optic nerve pallor and retinal vessel attenuation were noted. OCT revealed bilateral retinal thinning. ERG demonstrated non-recordable rod and cone responses. This case report describes multimodal imaging findings in a patient diagnosed with GAMOS due to biallelic homozygous variants in the gene with comparison of retinal findings and ERG results to previously reported cases. Furthermore, we present OCT and fundus images for the first time in the literature.