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Genetics review: relation to ocular disease

J R Griffin1

  • 1Southern California College of Optometry, Fullerton.

Optometry and Vision Science : Official Publication of the American Academy of Optometry
|March 1, 1994
PubMed
Summary

This review examines genetic trait transmission, including autosomal dominant, autosomal recessive, and X-linked recessive patterns, and their connection to common ocular diseases encountered in primary eye care.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Science

Background:

  • Genetic factors significantly influence ocular health and disease.
  • Primary eye care practitioners frequently encounter patients with inherited eye conditions.
  • Understanding genetic transmission is crucial for diagnosing and managing eye diseases.

Purpose of the Study:

  • To review modes of genetic trait transmission relevant to ocular diseases.
  • To identify genetic abnormalities commonly observed in primary eye care settings.
  • To provide guidelines for genetic counseling in ophthalmology.

Main Methods:

  • Literature review of genetic inheritance patterns.
  • Compilation of ocular diseases associated with specific genetic modes.
  • Synthesis of information on genetic counseling principles.

Main Results:

  • Detailed listing of autosomal dominant (AD), autosomal recessive (AR), X-linked (XR) recessive, chromosomal aberrations, and multifactorial (M) inheritance patterns.
  • Association of these genetic traits with various ocular abnormalities.
  • Identification of frequently observed genetic conditions in primary eye care.

Conclusions:

  • Genetic transmission plays a vital role in the etiology of many ocular diseases.
  • Awareness of genetic patterns aids practitioners in diagnosing and managing eye conditions.
  • Genetic counseling is an essential component of comprehensive eye care.

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