OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
The presence of consensus signal peptide sequences suggests that the product of the gene OPA1 is targeted to mitochondria and may exert its function in mitochondrial biogenesis and stabilization of mitochondrial membrane integrity.
Effect of gene therapy on visual function in Leber's congenital amaurosis.
- J. Bainbridge, Alexander J. Smith, R. Ali
- Medicine, BiologyNew England Journal of Medicine
- 22 May 2008
Three young adult patients with early-onset, severe retinal dystrophy were administered subretinal injections of recombinant adeno-associated virus vector 2/2 expressing RPE65 complementary DNA (cDNA) under the control of a human R PE65 promoter.
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
A new photoreceptor/pineal-expressed gene, AIPL1 (encoding aryl-hydrocarbon interacting protein-like 1), is described, that maps within the LCA4 candidate region and whose protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity.
Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene ( CRX ) Essential for Maintenance of the Photoreceptor
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait
- A. Wright, C. Chakarova, M. M. A. El-aziz, S. Bhattacharya
- BiologyNature reviews genetics
- 9 March 2010
The genetic and mechanistic causes of retinal degeneration due to PR cell death — which occurs in conditions such as retinitis pigmentosa and age-related macular degeneration — are being successfully dissected.
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
It is suggested that the retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing, at chromosome 1q32 with retinopathies.
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
The distinct RPE abnormalities observed in RP12 patients suggest that CRB1 mutations trigger a novel mechanism of photoreceptor degeneration, and a role forCRB1 in cell-cell interaction and possibly in the maintenance of cell polarity in the retina is suggested.
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.
These findings demonstrate that, although mutations of FKHL7 result in anterior-segment defects and glaucoma in some patients, it is probable that at least one more locus involved in the regulation of eye development is also located at 6p25.
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
A genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia suggests possible mechanisms explaining the pathogenesis of PACG.