Albinism: Ocular Genetic Studies

Albinism is a group of inherited disorders caused by genetic defects in the synthesis, distribution, or transport of melanin pigment. Ocular albinism, in particular, is characterized by clinical findings such as visual impairment, foveal hypoplasia, nystagmus, and loss of stereopsis due to the involvement of pigmented epithelial tissues. Numerous genes involved in melanin biosynthesis have been identified, and mutations in these genes play a crucial role in molecular diagnosis and in understanding genotype-phenotype correlations. Ocular genetic studies are critical not only for defining subtypes of albinism but also for clarifying prognosis, enabling accurate diagnosis, identifying carriers, and facilitating prenatal diagnosis. Recent analyses targeting genes such as GPR143, TYR, OCA2, SLC45A2, and DCT have provided significant insights into the clinical diversity of the disease, and novel mutations have also been reported in some cases. Additionally, the advancement of genetic diagnostic techniques has shed light on the relationship between foveal developmental anomalies and misrouting of retinal ganglion cell axons. This review discusses the genetic basis of albinism, its ocular manifestations, and current genetic perspectives in diagnosis and management strategies.