Broadening the ocular phenotypic spectrum of ultra-rare < em > BRPF1 < /em > variants: report of two cases

This report describes a novel ocular finding in patients affected by variants in the BRPF1 gene.METHODS: We performed exome sequencing and deep ocular phenotyping in two unrelated patients (P1, P2) with mild intellectual disability, ptosis, and typical facies.RESULTS: Interestingly, P1 had a Chiari Malformation type I and a subclinical optic neuropathy, which could not be explained by variations in other genes. Having detected a peculiar ocular phenotype in P1, we suggested optical coherence tomography (OCT) for P2; such an exam also detected bilateral subclinical optic neuropathy in this case.DISCUSSION: To date, only a few patients with BRPF1 variants have been described, and none were reported to have optic neuropathy. Since subclinical optic nerve alterations can go easily undetected, our experience highlights the importance of a more detailed ophthalmologic evaluation in patients with BRPF1 variant.PMID:38590032 | DOI:10.1080/13816810.2024.2337879
Source: Ophthalmic Genetics - Category: Opthalmology Authors: Source Type: research