Strategies for Gene Mapping in Inherited Ophthalmic Diseases

Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):282-92. doi: 10.1097/APO.0000000000000228.

Abstract

Gene mapping of inherited ophthalmic diseases such as congenital cataracts, retinal degeneration, glaucoma, age-related macular degeneration, myopia, optic atrophy, and eye malformations has shed more light on the disease pathology, identified targets for research on therapeutics, earlier detection, and treatment options for disease management and patient care. This article details the different approaches to gene identification for both Mendelian and complex eye disorders.

Publication types

  • Review

MeSH terms

  • Animals
  • Animals, Genetically Modified
  • Chromosome Mapping / methods*
  • Disease Models, Animal
  • Eye Diseases, Hereditary / genetics*
  • Genetic Linkage
  • Humans
  • Polymorphism, Single Nucleotide / genetics
  • Sequence Analysis, DNA / methods