Basal cell nevus syndrome presenting as epiretinal membrane and myelinated nerve fiber layer

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Retin Cases Brief Rep


PURPOSE: To report a case of epiretinal membrane and myelinated nerve fiber layer, which preceded the diagnosis of basal cell nevus syndrome, in a young girl.

METHODS: Observational case report.

RESULTS: A 12-year-old girl was referred for an asymptomatic epiretinal membrane. Examination revealed epiretinal membrane in the right eye without posterior vitreous separation or vitreous abnormality and bilateral myelinated nerve fiber layer. Subsequent workup yielded pathologic diagnosis of multiple skin basal cell carcinoma and odontogenic keratocysts in the jaw. Genetic testing revealed a frameshift mutation in the PTCH1 gene.

CONCLUSION: Basal cell nevus syndrome is a rare autosomal dominant disease that affects multiple organ systems, including the eyes. Recognition of common ocular findings in children with basal cell nevus syndrome can lead to systemic diagnosis. Early diagnosis is critical to initiate early screening for known neoplastic associations and lifelong minimization of sun exposure to reduce the incidence and severity of basal cell carcinoma.

Medical Subject Headings

Basal Cell Nevus Syndrome; Carcinoma, Basal Cell; Child; Diagnosis, Differential; Epiretinal Membrane; Female; Hamartoma Syndrome, Multiple; Humans; Jaw Neoplasms; Nerve Fibers, Myelinated; Odontogenic Cysts; Skin Neoplasms

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11 Suppl 1

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