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Leber congenital amaurosis 1

Synonyms
AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; GUCY2D-Related Leber Congenital Amaurosis; Leber's congenital tapetoretinal degeneration; Leber's congenital tapetoretinal dysplasia; Retinal blindness, congenital

Summary

Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis. [from MedlinePlus Genetics]

Available tests

55 tests are in the database for this condition.

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Clinical tests (55 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CACD, CACD1, CG-E, CORD5, CORD6, CSNB1I, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC, GUCY2D
    Summary: guanylate cyclase 2D, retinal

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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