Subject(s)
Glaucoma , Neurocutaneous Syndromes , Adolescent , Humans , Intraocular Pressure , Male , MutationABSTRACT
BACKGROUND: Phacomatosis pigmentovascularis (PPV) has previously almost exclusively been reported in Asians and in dermatological journals. In this report, we present a case of a young black South African adolescent boy referred to our eye clinic. CASE REPORT: A 15-year-old male patient presented with gradual, painless loss of vision in his right eye. Clinical examination revealed a port-wine stain with ocular involvement on the right as well as a nevus of Ota. Fundoscopy on the right revealed an advanced glaucomatous optic disc and raised intraocular pressure. A diagnosis of glaucoma associated with PPV was made. CONCLUSION: We present the first case of PPV in an African male individual with associated glaucoma seen at our tertiary hospital.