Albinism [31 genes]

Albinism is characterized by specific ocular changes resulting from insufficient melanin biogenesis in the eye during development. Optical changes including decreased visual acuity, deviation of the optic nerves in the chiasmatic region, and nystagmus, accompany a decrease in pigment in the iris and retina.

The service includes genes related to ocular and oculocutaneous albinism, as well as entities that include albinism as part of their phenotype and/or to be considered during the differential diagnosis:

• Oculocutaneous albinism.
• Ocular albinism.
• Hermansky-Pudlak disease.
• Waardenburg syndrome.
• Chediak-Higashi syndrome.
• Aland Island Eye Disease.
• Griscelli disease.

1-9/100,000 newborns.

The Albinism service is particularly recommended when the patient’s age is young. When the possibility of additional ocular or oculocutaneous manifestations appearing cannot be discarded due to the patient’s young age, a comprehensive service like this one, which includes differential diagnosis, would be preferable to one more restricted to oculocutaneous or ocular albinism genes.

The genetic approach proposed in this service allows us to confirm the diagnosis, as well as detect patients with more complex entities that have not been clinically suspected.

Clinical suspicion that the patient suffers from any form of albinism after ophthalmological evaluation.