Albinism is a group of rare inherited disorders arising from impairment of
melanin biosynthesis. The reduction of
melanin synthesis leads to
hypopigmentation of the skin and eyes. A wide range of ophthalmic manifestations arise from
albinism, including reduction of visual acuity, nystagmus,
strabismus, iris translucency, foveal hypoplasia, fundus
hypopigmentation, and abnormal decussation of retinal ganglion cell axons at the optic chiasm. Currently,
albinism is incurable, and treatment aims either surgically or pharmacologically to optimize vision and protect the skin; however, novel
therapies that aim to directly address the molecular errors of
albinism, such as l-
dihydroxyphenylalanine and
nitisinone, are being developed and have entered human trials though with limited success. Experimental gene-based strategies for editing the genetic errors in
albinism have also met early success in animal models. The emergence of these new therapeutic modalities represents a new era in the management of
albinism. We focus on the known genetic subtypes, clinical assessment, and existing and emerging therapeutic options for the nonsyndromic forms of
albinism.