The important role of OCT in the diagnosis of Oculocutaneous albinism

Abstract

Purpose Oculocutaneous albinism (OCA) is a group of genetic diseases with an autosomal dominant pattern. It affects skin, hair and eyes, leading in an hypopigmentation of all these organs. In ophthalmology we can observe a low visual acuity, photophobia, nystagmus, foveal hypoplasia and retinal hypopigmentation. The hypopigmentation may also affect the iris with a characteristic iridian translucence. The disease is also associated with chiasm alterations. Methodss We present the case of a 40 year old patient that was referred to our service to confirm the diagnosis of oculocutaneous albinism. The patient presents a severe hypopigmentation of the skin and hair. She also referred a low visual acuity since birth. She didn't presented family antecedents, or personal ophthalmologic history. Results The best corrected visual acuity (BCVA) was 0.1 in both eyes. The patient presented horizontal nystagmus and iridian translucence. The fundus examination revealed an important retinal atrophy that showed the choroidal circulation.The optical coherence tomography (OCT) revealed a foveal hypoplasia, atrophy in the epithelial retinal epithelium. Conclusions In the patients that the diagnosis of oculocutaneous albinism is not clear, the use of an objective complementary test may be determinant before the genetic diagnosis. This case shows the utility of macular OCT to guide the molecular diagnosis.