Leber congenital amaurosis 7

Common Name(s)

Leber congenital amaurosis 7

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. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {1:Chung and Traboulsi, 2009}). For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leber congenital amaurosis 7" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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