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What is the difference between albinism and ocular albinism?

Published in Genetics & Ophthalmology 2 mins read

The key difference between albinism and ocular albinism lies in the extent of pigment loss: albinism, specifically oculocutaneous albinism (OCA), affects the skin, hair, and eyes, while ocular albinism (OA) primarily affects the eyes.

Here's a more detailed breakdown:

Oculocutaneous Albinism (OCA)

  • Definition: OCA is a group of inherited conditions characterized by reduced or absent melanin production. Melanin is the pigment responsible for coloring the skin, hair, and eyes.
  • Symptoms: Individuals with OCA have:
    • Skin: Lighter than normal skin, ranging from very pale to nearly normal. Increased sensitivity to sun exposure and risk of skin cancer.
    • Hair: White, yellow, or light brown hair.
    • Eyes: Light blue or pink eyes. Significant vision problems, including:
      • Reduced visual acuity
      • Nystagmus (involuntary, rapid eye movements)
      • Strabismus (misalignment of the eyes)
      • Photophobia (sensitivity to light)

Ocular Albinism (OA)

  • Definition: OA is a genetic condition that primarily affects the eyes, resulting in decreased pigmentation.
  • Symptoms: Individuals with OA typically have:
    • Skin and Hair: Usually normal pigmentation in the skin and hair.
    • Eyes: Vision problems similar to those seen in OCA, including:
      • Reduced visual acuity
      • Nystagmus
      • Strabismus
      • Photophobia
    • Fundus examination shows hypopigmentation.

Summary Table

Feature Oculocutaneous Albinism (OCA) Ocular Albinism (OA)
Skin Hypopigmented Usually normal pigmentation
Hair Hypopigmented Usually normal pigmentation
Eyes Hypopigmented, vision problems Hypopigmented, vision problems
Affected Areas Skin, hair, and eyes Primarily eyes

In essence, while both conditions impact vision due to melanin deficiency, OCA manifests with pigment loss in the skin and hair as well, whereas OA mainly affects the eyes, leaving skin and hair pigmentation largely unaffected.

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