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Albinism--a clinician's low vision perspective.
1Southern California College of Optometry, Fullerton 92631.
Summary
Albinism is a genetic condition affecting vision, typically inherited as autosomal recessive, except for ocular albinism (X-linked). Patients benefit from low vision aids and glare filters.
Area of Science:
- Genetics
- Ophthalmology
- Medical Science
Background:
- Albinism is a group of inherited disorders characterized by a lack of melanin pigment.
- It primarily affects the eyes, skin, and hair.
- Most forms of albinism are inherited in an autosomal recessive pattern, with ocular albinism being an exception with X-linked inheritance.
Purpose of the Study:
- To summarize the genetic basis and visual characteristics of albinism.
- To highlight the visual impairments associated with albinism.
- To discuss management strategies for individuals with albinism.
Main Methods:
- Literature review of albinism inheritance patterns.
- Compilation of common visual symptoms and their severity.
- Summary of effective low vision interventions.
Main Results:
- Albinism is predominantly autosomal recessive, with X-linked ocular albinism.
- Visual symptoms include photophobia, nystagmus, reduced visual acuity (20/30 to 20/400), and astigmatism.
- Patients show significant improvement with low vision devices and glare filters.
Conclusions:
- Understanding the genetic basis is crucial for diagnosis.
- Visual impairment in albinism is significant but manageable.
- Low vision devices and glare filters are effective in improving quality of life.