This report describes Leber congenital amaurosis 7 (LCA7), which is a subtype of Leber congenital amaurosis; both autosomal dominant and autosomal recessive forms of LCA7 have been reported. The human gene implicated in this disease is CRX (cone-rod homeobox) gene, which encodes a transcription factor required for development and maintenance of photoreceptor cells. CRX is also implicated in other diseases associated with retinal degeneration (MIM:602225; MIM:268000). See the report for 'retinal disease, CRX-related' (FBhh0000567) for information on experimental results using Drosophila models of this and related diseases.
Variant(s) implicated in human disease tested (as transgenic human gene, CRX): the R90W and K88N variant forms, and a gene carrying the c.413delT(p.I138fs48) C-terminal deletion have been introduced to flies. These specific variants are implicated in LCA7.
[updated Jul. 2017 by FlyBase; FBrf0222196]
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. (summary by Chung and Traboulsi, 2009; pubmed:20006823). [from MIM:204000; 2016.08.27]
Leber congenital amaurosis (LCA) is an inherited retinal degenerative disease characterized by severe loss of vision at birth. Affected infants are often blind at birth. Other symptoms may include crossed eyes (strabismus); rapid, involuntary eye movements (nystagmus); unusual sensitivity to light (photophobia); clouding of the lenses of the eyes (cataracts); and/or a cone shape to the front of the eye (keratoconus). [NORD, Leber Congenital Amaurosis; 2016.08.27]
[LEBER CONGENITAL AMAUROSIS 7; LCA7](https://omim.org/entry/613829)
[CONE-ROD HOMEOBOX-CONTAINING GENE; CRX](https://omim.org/entry/602225)
Leber congenital amaurosis 7 can be caused by heterozygous or homozygous mutation in the CRX gene. [from MIM:613829; 2017.06.30]
Many to one: 3 human to one Drosophila; the other human genes are OTX1 and OTX2.
Low- to moderate-scoring ortholog of human genes OTX1, OTX2, and CRX (1 Drosophila to 3 human); Dmel\oc shars 30-36% identity and 40-45% similarity with the human genes.
