The evolving role of genetics in ophthalmology

Natario L. Couser, Brian P. Brooks, Arlene V. Drack, Suma P. Shankar

Research output: Contribution to journalReview articlepeer-review


Advances in molecular genetics over the past three decades have helped identify a substantial number of genetic variants causing inherited eye diseases that can be identified rapidly by appropriate genetic tests in a clinically useful window. With this progression of knowledge, the roles of genetics and ophthalmology in patient care have become increasingly intertwined, and the necessity for subspecialists in the field of ophthalmic genetics is of paramount importance. As a result of continual medical specialization, technological progress in genetics and knowledge garnered by over a century and a half of cataloguing eye pathology, ophthalmic genetics has become an emerging subspecialty within ophthalmology. By virtue of its rapidly changing advances, genetics and genomics serves a large role within ophthalmology, and subspecialists with the same level of detailed and broad knowledge as any other ophthalmology subspecialty are now required in order to meet the growing needs of the expanding population.

Original languageEnglish (US)
JournalOphthalmic Genetics
StateAccepted/In press - 2021


  • gene therapy
  • Inherited retinal disease
  • ocular genetics training program
  • ophthalmic genetics fellowship
  • Ophthalmology subspecialist

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)


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