Inherited ocular disorders

Lynne Sheila Sandmeyer, Rebecca Bellone

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

This chapter reviews some basic concepts of genetics and describes those ocular conditions for which a genetic basis is known or suspected in the horse. These include congenital stationary night blindness (CSNB) and multiple congenital ocular anomalies (MCOA) syndrome, for which causative mutations are reported; ocular disorders in which single gene inheritance patterns are suspected but little else is known, such as cataract in the Morgan horse and aniridia in the Belgian and Quarter horse; conditions for which a simple Mendelian genetic basis is supported, such as limbal squamous cell carcinoma (SCC) in the Haflinger, corneal dystrophy in the Friesian, and cataracts in several breeds; and ocular diseases with complex pathogeneses, for which genes and genetic associations have been detected but inheritance patterns and causative mutations are unknown, such as equine recurrent uveitis (ERU) in the Appaloosa and German Warmblood. Additionally, a brief overview of several inherited systemic conditions that also have ocular manifestations, including hereditary equine regional dermal asthenia (HERDA), hyperkalemic periodic paralysis (HYPP), junctional epidermolysis bullosa (JEB), lethal white foal syndrome (LWFS), and severe combined immunodeficiency (SCID), is provided.

Original languageEnglish (US)
Title of host publicationEquine Ophthalmology
Subtitle of host publicationThird Edition
Publisherwiley
Pages545-566
Number of pages22
ISBN (Electronic)9781119047919
ISBN (Print)9781119047742
DOIs
StatePublished - Dec 12 2016

Keywords

  • DNA
  • Equine
  • Eye
  • Genetics
  • Heredity
  • Horse
  • Inheritance
  • Mutation
  • Ocular conditions
  • Phenotype

ASJC Scopus subject areas

  • veterinary(all)

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