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Leber congenital amaurosis

Clinically & genetically heterogeneous group of childhood retinal degenerations Epidemiology: - most common genetic cause of congenital visual impairment in infants and children Pathology: - little or no retinal photoreceptor function Genetics: - autosomal recessive - defects in GUCY2D are a cause of LCA1 - defects in RPE65 are a cause of LCA2 - defects in RDH12 are a cause of LCA3 - defects in AIPL1 are a cause of LCA4 - defects in lebercilin are a cause of LCA5 - defects in RPGRIP1 are a cause of LCA6 - defects in CRX are the cause of LCA7 [2] - defects in CEP290 are the cause of type 10 [3] - defects in RD3 are a cause of LCA12 - defects in CRB1 or CRB2 gene Clinical manifestations: 1) moderate to severe congenital visual impairment 2) infantile nystagmus 3) sluggish pupillary responses - paradoxical pupil response may be observed 4) symmetric midfacial hypoplasia 5) enophthalmos 6) hypermetropic refractive errors 7) substantial variability Special laboratory: - absent or poorly recordable electroretinographic responses early in life

Related

transient monocular blindness (TMB); amaurosis fugax

General

retinal disease genetic disease of the eye

Database Correlations

OMIM correlations MORBIDMAP 604392

References

  1. OMIM :accession 204000
  2. OMIM :accession 613829
  3. OMIM :accession 611755
  4. ARUP consult: Retinitis Pigmentosa/Leber Congenital Amaurosis Panel https://arupconsult.com/ati/Retinitis-Pigmentosa-Leber-Congenital-Amaurosis-Panel