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Leber Congenital Amaurosis

  • Stephen H. Tsang
  • Tarun SharmaEmail author
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)

Abstract

  • Leber congenital amaurosis (LCA) is a part of the spectrum of early-onset retinal dystrophy (EORD). It usually presents in the first few years of life, most often before the age of 1 year. The prevalence is about 1:80,000.

  • Also known as congenital retinitis pigmentosa (RP), patients have wandering nystagmus, with reduced vision from birth. The fundus is almost normal to start with. Later, pigmentary disturbances develop.

  • The best corrected visual acuity (BCVA) ranges from no light perception (in nearly one third of cases) to no better than 20/400, often with a hyperopic refraction (≥5.0D). Patients have absent pupillary reflex and some of them have keratoconus (CRB1 and AIPL1).

  • Oculodigital reflex (eye rubbing or poking) is a common association.

  • Electroretinography (ERG) responses are almost undetectable.

  • Patients may have normal intelligence, but some studies suggest that as many as 20% of children with LCA without associated anomalies develop intellectual disability.

  • Patients with GUCY2D mutations have a stable clinical course; those with RPE65 mutations show a period of limited improvement followed by progressive deterioration; and those with AIPL1, CRB1, CEP290, and NMNAT1 mutations show gradual progression over several decades.

Keywords

Autosomal recessive Leber congenital amaurosis 

Suggested Reading

  1. Kumaran N, Moore AT, Weleber RG, Michaelides M. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. Br J Ophthalmol. 2017;101:1147–54.CrossRefGoogle Scholar
  2. Sheck L, WIL D, Moradi P, Robson AG, Kumaran N, Liasis AC, et al. Leber congenital amaurosis associated with mutations in CEP290, clinical phenotype, and natural history in preparation for trials of novel therapies. Ophthalmology. 2018;125(6):894–903.  https://doi.org/10.1016/j.ophtha.2017.12.013. [Epub ahead of print].CrossRefPubMedPubMedCentralGoogle Scholar
  3. Takkar B, Bansal P, Venkatesh P. Leber’s congenital amaurosis and gene therapy. Indian J Pediatr. 2018;85:237–42.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA

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