This report describes Leber congenital amaurosis (postulated), PNPLA6-related. It is hypothesized that the human gene PNPLA6 is the causative gene for a subtype of Leber congenital amaurosis, based on whole-exome sequencing of 200 patients with Leber congenital amaurosis which revealed 7 individuals with mutations in the PNPLA6 gene (FBrf0227268). See the report for neurodegenerative disease, PNPLA6-related (FBhh0000368) for information on experimental results using Drosophila models of this and related diseases.
[updated Aug. 2016 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]
Many to one (2 human to 1 Drosophila); the second orthologous gene in human is PNPLA7.
