Retinal Pigment Epithelial Changes in Gordon Holmes Syndrome

Purpose: To describe atypical peripapillary retinal changes and neuroimaging findings in a patient with Gordon Holmes syndrome associated with compound heterozygous PNPLA6 variants, expanding the ophthalmic phenotype of this rare disorder. Methods: A single case was reviewed. Results: A 31-year-old woman with Gordon Holmes syndrome was referred for ophthalmic evaluation. Fundus autofluorescence imaging demonstrated atrophic peripapillary retinal pigment epithelial changes without central chorioretinal atrophy, distinguishing it from the phenotype typically seen in Boucher-Neuhäuser syndrome. Magnetic resonance imaging (MRI) of the brain revealed cerebellar atrophy and marked bilateral T2 hyperintensities in the basis pontis. Over 8 years of follow-up, visual acuity remained stable, with mild progression of pigment epithelial changes. Conclusions: Gordon Holmes syndrome may present with atypical peripapillary retinal changes and mild pigmentary retinopathy without clinically significant visual loss. These previously unrecognized retinal findings, along with atypical MRI features, broaden the ophthalmologic and neuroimaging spectrum of PNPLA6-related disorders. Recognition of these manifestations may help ophthalmologists diagnose such rare neurodegenerative conditions.