Leber Congenital Amaurosis 7

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OMIM 57 613829 Disease Ontology 12 DOID:0110333 ICD10 33 H35.5 MedGen 42 C3151192

MeSH 44 D057130 SNOMED-CT via HPO 69 258211005 246635007 397540003 7973008 128306009 193570009 247053007 65636009 246622003 409668002 35743001 more UMLS 73 C3151192

OMIM : ⁵⁷ 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 Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (613829)

MalaCards based summary : Leber Congenital Amaurosis 7, is also known as lca7. An important gene associated with Leber Congenital Amaurosis 7 is CRX (Cone-Rod Homeobox). Affiliated tissues include retina and eye, and related phenotypes are visual impairment and cataract

Disease Ontology : ¹² A Leber congenital amaurosis that has material basis in mutation in the CRX gene on chromosome 19q13.

UniProtKB/Swiss-Prot : ⁷⁵ Leber congenital amaurosis 7: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Clinical features from OMIM:

613829

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 7

Search GEO for disease gene expression data for Leber Congenital Amaurosis 7.