Abstract

The phacomatoses or neurocutaneous syndromes are a heterogeneous group of genetic disorders arising from the embryonic ectoderm, characterized by multiple congenital anomalies affecting the eye, skin, and central nervous system. Two of the most common phacomatoses are neurofibromatosis and tuberous sclerosis, and retinal manifestations may be seen in both these entities. Retinal astrocytic hamartomas are benign glial tumors that originate from astrocytes in the retinal nerve fiber layer. While they are classically associated with systemic phacomatoses such as tuberous sclerosis complex and neurofibromatosis, these lesions can also present as incidental findings in otherwise healthy individuals. It should be kept in mind that retinal involvement may accompany phacomatoses and detailed ophthalmological evaluation should be performed in these patients.

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