We report the vitreoretinal manifestations of Gorlin–Goltz syndrome (GGS) in a young female, highlighting the diagnostic value of multimodal imaging and genetic confirmation. A 22-year-old woman undergoing routine ophthalmic evaluation had a history of ovarian fibroma and resected maxillary odontogenic cysts. Clinical examination revealed palmar and plantar pits and marked hypertelorism. Optical coherence tomography demonstrated bilateral epiretinal membranes and three unilateral, well-defined hyper-reflective foveal and parafoveal retinal hamartomas without feeder vessels or subretinal fluid, consistent with solitary circumscribed retinal astrocytic proliferations (SCRAPs). Genetic testing confirmed a pathogenic PTCH1 mutation. Vitreoretinal involvement in GGS is uncommon and reflects aberrant hedgehog signalling related to tumour suppressor gene dysfunction. Comprehensive retinal assessment with multimodal imaging enabled accurate characterisation of the ocular phenotype and supported confirmation of a syndromic diagnosis.
Mata-Cortes et al. (Mon,) studied this question.