inheritance pattern involved. The implications can be explained; for example, on average, one-quarter of the children of carrier parents of autosomal recessive oculocutaneous albinism will be affected. When inheritance is X-linked recessive, an affected maie will pass on the abnormal gene to all of his daughters (they will, with rare exceptions, be carriers)
and to none of his sons (as the Y chromosome does not carry the mutation). Referral to a geneticist is often appropriate.
Surgery Extraocular muscle surgery may be beneficial in selected patients with severe strabismus or abnormal head position due to nystagmus.
Slit-lamp microscopy demonstrating iris transillumination.
Pale fundus with prominent choroidal vessels and macular dysplasia with loss of macular reflex.