Mild Oculocutaneous Albinism Type 1B With Subtle Cutaneous Findings: A Dermatology-Oriented Case Report

Oculocutaneous albinism type 1B (OCA1B) may present with subtle dermatologic manifestations and be initially suspected through ophthalmologic abnormalities. We report a 16-year-old female with normal psychomotor development who presented with progressive decreased visual acuity beginning in childhood. Ophthalmologic evaluation demonstrated reduced best-corrected visual acuity (BCVA) and fundoscopic findings, including pale optic discs and increased visibility of choroidal vessels. Suspicion of albinism increased after optical coherence tomography (OCT) revealed the absence of foveal depression. The patient was referred to clinical genetics, where next-generation sequencing (NGS) confirmed TYR variants consistent with OCA1B, followed by genetic counseling regarding autosomal recessive inheritance. Dermatologic evaluation later revealed Fitzpatrick phototype II skin and gray-green irides consistent with a mild hypopigmented phenotype of OCA1B. Mild acneiform lesions were also observed and considered incidental findings. This case highlights the importance of dermatologic assessment within a multidisciplinary diagnostic pathway, contributing to the recognition of subtle cutaneous phenotypes and the implementation of long-term photoprotection and surveillance strategies in patients with mild albinism.