OCULAR ALBINISM

Ocular Albinism: Detailed Information

Ocular albinism is a group of inherited conditions affecting the pigmentation of the eyes. Key aspects include:

Characteristics

  • Reduced pigmentation: Mainly affects the iris and retina.
  • Vision problems: Common issues include reduced visual acuity, nystagmus (involuntary eye movements), strabismus, and photophobia (sensitivity to light).
  • Type 1 (OA1): Most common form, typically X-linked inheritance affecting males more severely.

Symptoms and Effects

  • Visual impairment: Range from mild to significant vision loss.
  • Nystagmus and strabismus: Common associated eye movement issues.
  • Photophobia: Sensitivity to light due to lack of pigmentation.

Genetics and Diagnosis

  • Inheritance: Usually X-linked for OA1, affecting males primarily.
  • Diagnosis: Often based on clinical findings like iris transillumination defects and visual issues.

Management

  • Visual aids: Glasses or contact lenses may help.
  • Low vision support: Services can assist with daily challenges.
  • Protection from sunlight: Due to photophobia.