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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
TLDR
The CEP290 mutations represent one of the most frequent causes of LCA identified so far and are localized in a consanguineous LCA-affected family from Quebec and identified a splice defect in a gene encoding a centrosomal protein (CEP290).
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
TLDR
It is suggested that CRB1 mutations are a frequent cause of LCA and are strongly associated with the development of Coats-like exudative vasculopathy in patients with RP.
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
TLDR
Results show that mutations in the ABCR gene not only result in STGD and AMD, but can also cause autosomal recessive RP and CRD.
Prevalence and geographical distribution of Usher syndrome in Germany
TLDR
Knowledge of the high prevalence of Usher syndrome, with up to 5,000 patients in Germany, should lead to increased awareness and timely diagnosis by ophthalmologists and otologists and it should also ensure that these patients receive good support through hearing and vision aids.
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
TLDR
A primary role of the ABCA4 gene in STGD1/FFM and AR CRD, together with the gene's involvement in an as-yet-unknown proportion of cases with AR RP, strengthens the idea that mutations in the ABC a4 gene could be the most frequent cause of inherited retinal dystrophy in humans.
Determination of the location of the fovea on the fundus.
  • K. Rohrschneider
  • Medicine
    Investigative ophthalmology & visual science
  • 1 September 2004
TLDR
The distance between the optic nerve head and the fovea does not allow for a meaningful determination of the location of thefovea in eyes in which morphologic changes have occurred.
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
TLDR
The spectrum of VMD2 mutations in juvenile-onset vitelliform macular dystrophy is further characterised and four mutations found in the AVMD patients were also seen in Best disease suggesting a considerable overlap in the aetiology of these two disorders.
Cryopreserved human amniotic membrane for ocular surface reconstruction
TLDR
The technique for preservation which is most widely used for ophthalmological amniotic membrane transplantation significantly impairs viability and proliferative capacity and seems to function primarily as matrix and not by virtue of transplanted functional cells.
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
TLDR
It is hypothesized that the 2588G-->C alteration is a mild mutation that causes Stargardt disease only in combination with a severe ABCR mutation, and homozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype.
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