Clinical and Genetic Findings in an Autosomal Dominant Optic Atrophy-Compatible Phenotype Harboring an OPA1 Variant:...

We report a case of an 18-year-old Hispanic male patient with clinical features consistent with autosomal dominant optic atrophy (ADOA), including bilateral optic disc pallor, childhood color deficits, and visual field loss. The patient reported one year of progressive blurry vision; best-corrected visual acuity was measured at 20/30 in the right eye (OD) and 20/60 in the left eye (OS). Multimodal imaging revealed the expected structure-function pattern, with spectral-domain OCT demonstrating predominant retinal nerve fiber layer (RNFL) thinning and a preserved macular contour. Meanwhile, Humphrey's visual fields showed paracentral defects in the OD and a superior arcuate defect with inferior scotomas in the OS. Genetic testing identified a heterozygous OPA1 variant (c.1310A>G; p.Gln437Arg), currently classified as a variant of uncertain significance (VUS). To our knowledge, this variant has not been previously reported from Caribbean cohorts with ADOA. The case underscores the importance of clinical-genetic correlation in interpreting uncertain variants and highlights how limited regional allele-frequency data can constrain classification. Therefore, our case expands the phenotypic and geographic context for OPA1-associated optic neuropathy and motivates segregation testing, broader genetic screening, and functional studies to clarify pathogenicity and improve diagnostic accuracy in underrepresented populations such as those in the Caribbean.