GENETIC BASIS AND CLINICAL MANIFESTATIONS OF ALBINISM
Keywords:
albinism, melanin, molecular genetics, tyrosinase, clinical manifestations, ophthalmology.Abstract
Albinism is a heterogeneous group of inherited disorders characterized by a significant reduction or complete absence of melanin pigmentation in the skin, hair, and eyes. The condition arises from genetic defects affecting melanin biosynthesis, melanosomal structure, or intracellular transport processes within melanocytes. In addition to pigmentation abnormalities, albinism is associated with characteristic developmental defects of the visual system, leading to lifelong visual impairment.
This article presents a comprehensive review of the molecular genetic mechanisms underlying albinism, its pathogenesis, major clinical subtypes, and ophthalmological manifestations. Mutations in the TYR, OCA2, TYRP1, SLC45A2, and GPR143 genes are identified as the principal genetic determinants of both oculocutaneous and ocular forms of albinism. Clinically, reduced visual acuity, photophobia, nystagmus, foveal hypoplasia, and abnormal optic nerve fiber decussation represent the most significant functional impairments.
The review highlights the importance of early diagnosis, molecular genetic testing, genetic counseling, and multidisciplinary clinical management in improving visual outcomes and quality of life for individuals with albinism.
