ocular albinism type 1 (OA1); Nettleship-Falls type ocular albinism

Pathology

• macromelanosomes on skin biopsy

Genetics

• X-linked
• mutations in gene for G protein-coupled receptor 143

Clinical manifestations

• pupillary reflex is characteristic
• fundus is depigmented
  • pigmentation is normal elsewhere than in the eye
• choroidal vessels prominent
• nystagmus
• head nodding
• impaired vision
• in carrier females the fundus, especially in the periphery, shows a mosaic of pigmentation

More general terms

• albinism; leucopathy

Additional terms

• G protein-coupled receptor 143 (ocular albinism type 1 protein, GPR143, OA1)