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Leber Congenital Amaurosis

A Hereditary Childhood Form of Blindness and a Model to Elucidate Retinal Physiology and Development

  • Chapter
Retinal Degenerations

Part of the book series: Ophthalmology Research ((OPHRES))

Abstract

Leber congenital amaurosis ([LCA], MIM 204000) is an important, currently untreatable congenital retinal dystrophy that inexorably leads to blindness. Its importance is twofold and lies in the fact that it creates a tremendous burden on the affected child, the family, and society, as the blindness is life long and commences at birth. Also, LCA gene discoveries have led to an increased understanding of the molecular determinants of retinal physiology and retinal development by identifying new biochemical and cellular pathways. Therefore, LCA serves as a model for all human retinal dystrophies and human retinal development and physiology. LCA has a worldwide prevalence of 3 in 100,000 newborns and accounts for 5% or more of all inherited retinopathies and approx 20% of children attending schools for the blind (1). We estimate that 180,000 patients are affected worldwide (2). Leber defined LCA in 1869 as a congenital form of retinitis pigmentosa (RP) with profound visual loss at birth, nystagmus, amaurotic pupils, and a pigmentary retinopathy (3). A severely reduced electroretinogram (ERG) was added to the definition as this distinguishes it from a complex set of overlapping retinal dystrophies (4).

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  1. McGill Ocular Genetics Laboratory, Montreal Children’s Hospital, Montreal, Quebec, Canada

    Robert K. Koenekoop MD, PhD

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  1. Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, CT

    Joyce Tombran-Tink PhD  & Colin J. Barnstable DPhil  & 

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Koenekoop, R.K. (2007). Leber Congenital Amaurosis. In: Tombran-Tink, J., Barnstable, C.J. (eds) Retinal Degenerations. Ophthalmology Research. Humana Press. https://doi.org/10.1007/978-1-59745-186-4_3

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  • DOI: https://doi.org/10.1007/978-1-59745-186-4_3

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