FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: Leber congenital amaurosis
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General Information
Name
Leber congenital amaurosis
FlyBase ID
FBhh0000390
Disease Ontology Term
Parent Disease
OMIM
Overview

Leber congenital amaurosis (LCA) comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. A list of LCA subtypes, as defined by OMIM, can be accessed by following the link in the 'Related Diseases' section.

[updated Jul. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: Leber congenital amaurosis
OMIM report
Symptoms and phenotype

Leber congenital amaurosis (LCA) is an inherited retinal degenerative disease characterized by severe loss of vision at birth. Affected infants are often blind at birth. Other symptoms may include crossed eyes (strabismus); rapid, involuntary eye movements (nystagmus); unusual sensitivity to light (photophobia); clouding of the lenses of the eyes (cataracts); and/or a cone shape to the front of the eye (keratoconus). [NORD, Leber Congenital Amaurosis; 2016.08.27]

(FlyBase Curators, 2013-)

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. (summary by Chung and Traboulsi, 2009; pubmed:20006823). [from MIM:204000; 2016.08.27]

(OMIM, 2013-)
Genetics

LCA is usually inherited as an autosomal recessive genetic condition. [NORD, Leber Congenital Amaurosis; 2016.08.27]

(FlyBase Curators, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
congenital retinal blindness
CRB
hereditary retinal aplasia
LCA
Leber's amaurosis
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (2)