ALTERNATE NAMES

Amaurosis Congenita of Leber; Congenital Absence of Rods and Cones; Congenital Retinal Blindness; LCA; Leber’s Amaurosis; Leber’s Congenital Amaurosis; Leber’s Congenital Tapetoretinal Degeneration; Leber’s Congenital Tapetoretinal Dysplasia

DESCRIPTION

Leber Congenital Amaurosis (LCA) is a disease of infancy in which the rods and cones -- the photoreceptors in the retinas which detect color and light -- fail to properly develop, resulting in severe vision impairment. It is the most common cause of blindness in children.

LCA is a genetic disorder that follows an autosomal-recessive inheritance pattern. It can be caused by defects on one of several genes, most commonly CEP290, CRB1, GUCY2D, and REP65. There are currently over 20 identified variants of LCA; in about 30 percent of cases, the affected gene is not determinable.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: LCA is diagnosed through ophthalmological and laboratory testing. Electroretinogram tests measure the function of the rods and cones; a genetic workup can help identify the affected gene.

Physical findings: Symptoms of LCA include:

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  Low or no vision;

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  Photophobia (hypersensitivity to light);

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  Nystagmus (involuntary twitching of the eyes);

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  Hyperopia (extreme farsightedness);

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  Franceschetti’s oculo-digital sign (compulsive rubbing and poking of the eye with a finger);

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  Cataracts; and

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  Glaucoma.

ICD-9: 362.70

ICD-10: H35.50

PROGRESSION

Generally, people with LCA require assistive devices and care for the duration of their lives. Some children with LCA experience slight improvement in visual acuity as they mature, but this is uncommon.

TREATMENT

There is no cure for LCA. Treatment is supportive and relies on standard tools and devices (e.g., canes, audio cues, service animals) to assist with mobility and other activities of daily living.

Clinical trials involving gene therapy have shown some promise in restoring retinal function, but overall results are inconclusive and further study is needed.

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment; and

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  Laboratory tests confirming visual impairment and retinal dysfunction.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

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