Group of diseases characterized by ocular hypopigmentation and decreased visual acuity.

Depending on the genetic origin, several forms have been identified:

• X-linked recessive ocular albinism or Nettleship-Falls type or type 1 [MIM 300,500]: most common: 1/60,000 to 1/150,000 boys; mutation of the GPR143 gene (Xp22.3). Congenital nystagmus type 6 is an allelic form of this gene.
• ocular albinism with congenital deafness or Waardenburg syndrome type 2 (see this term)
• ocular albinism with late deafness [MIM 300 650]; allelic form of type 1
• X-linked congenital albinism type Forsius-Erikson or ocular albinism type 2, or ophthalmic disease of the Aland Islands (Gulf of Bothnia) [MIM 300 600]: mutation of the CACNA1F gene (Xp11.23). Associated with progressive myopia and protanopia. Close to incomplete X-linked congenital night blindness.

Clinical monkeys:

• translucent pale blue iris
• ocular hypopigmentation (fundoscopy exam)
• decreased visual acuity, photodysplasia, horizontal nystagmus sometimes accompanied by nodding (which improves over time)
• sometimes hypopigmented spots on the limbs
• presence of macromelanosomes on skin biopsy

Anesthetic implications:

photophobia, protecting the skin and eyes from dazzling light

References : 

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Updated: August 2022