Oculo-cutaneous Albinism

Oculocutaneous albinism (OCA) is a congenital inherited disorder characterized by a complete or partial absence of melanin pigment in the skin, hair, and eyes due to defective melanin synthesis.

It is caused by mutations affecting tyrosine → melanin conversion in melanocytes. The condition is lifelong and present from birth.

Individuals with OCA have:

• Markedly increased risk of skin cancers

• Significant visual impairment

Inheritance pattern: Autosomal recessive

Pathophysiology (Brief)

Melanin protects against ultraviolet radiation and supports normal retinal development. Deficiency leads to:

Skin effects:

• Sun sensitivity

• DNA damage → cancers

Eye effects:

• Foveal hypoplasia

• Misrouting of optic nerves

• Reduced visual acuity

Signs & Symptoms

Ocular features:

• Strabismus (crossed eyes)

• Photophobia (light sensitivity)

• Nystagmus (rapid involuntary eye movement)

• Reduced vision or blindness

• Astigmatism

Skin & hair features:

• Very light or white hair

• Pale skin

• Easy sunburn

• Freckles or sun spots at early age

Diagnostic Criteria

Diagnosis is clinical when typical pigmentation plus ocular abnormalities exist:

• Strabismus

• Photophobia

• Nystagmus

• Visual impairment or blindness

• Astigmatism

Investigations

Usually clinical diagnosis, but investigations help confirm and monitor complications:

Ophthalmic assessment

• Visual acuity testing

• Refraction test (for astigmatism)

• Fundoscopy → foveal hypoplasia

• Optical coherence tomography (OCT)

Dermatological assessment

• Skin examination for premalignant lesions

• Biopsy if suspicious lesion present

Genetic tests (if available)

• Mutation confirmation

• Family counseling

Management

Non-Pharmacological Treatment

• Genetic counseling (very important to prevent recurrence in family)

• Protective clothing:

  • Long-sleeved shirts

  • Trousers or long skirts

  • Wide-brimmed hats

• Sun-protective glasses with UVB filters

• Avoid outdoor work under strong sunlight

• Advice on indoor income-generating activities

• Regular dermatology screening for early cancer detection

• Regular ophthalmology follow-up

Pharmacological Treatment

• Sunscreen SPF ≥30

  • Apply twice daily (8:00 AM and 12:00 PM)

  • Reapply after sweating or washing

Referral

Refer urgently to higher center if:

• Suspicious skin lesion

• Non-healing ulcer

• Rapidly growing mass

• Pigmented or bleeding lesion

(Suspected skin cancer)

Complications

• Squamous cell carcinoma (commonest)

• Basal cell carcinoma

• Actinic keratosis

• Severe visual disability

• Social stigma and psychological distress

Prevention

Primary prevention is not possible (genetic condition), but complications can be prevented:

• Lifelong sun protection

• Early treatment of precancerous lesions

• Routine skin screening every 6–12 months

• Vision correction early in childhood

• Genetic counseling before marriage/pregnancy