A defect in the production of the pigment melanin leads to pale tissues in the eye alone (ocular albinism) or in the eye, hair and the skin (Oculocutaneous albinism) Ocular albinism has X-linked inheritance, oculocutaneous albinism has autosomal recessive inheritance.
Clinical Features
Patients with oculocutaneous form generally more severely affected.
Poor visual acuity
Pale, blue iris with back reflection of retina giving red-eyed appearance
Nystagmus
Poor binocular vision
Photophobia
Squint
Management
Glasses as needed, tints may help
Correction of squint
Skin care to prevent sunburn
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