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in visual function. The different syndromic and nonsyndromic forms of retinal dystrophies can be attributed to mutations in more than 250 genes. Molecular diagnosis for patients with retinitis pigmentosa has ...
with autosomal dominant retinitis punctata albescens . Nat Genet . 1993;7:208-212.Crossref 57. Goldberg MF. Molecular heterogeneity in retinitis pigmentosa : more mutations . Ophthalmic Genet . 1994;15:47-50 ...
there are at least 22 genes (and probably many more ) involved, with further allelic heterogeneity arising from different mutations in the same gene. This complexity presents a problem for those involved in counselling ...
Abstract Retinitis pigmentosa (RP) is the most frequent genetically and clinically heterogeneous inherited retinal degeneration. To date, more than 80 genes have been identified that cause autosomal ...
Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by a complex association between tremendous genotypic multiplicity and great phenotypic heterogeneity . The severity ...
. Most noteworthy is the rapid detection of mutations in various genes associated with various retinal degenerations and disorders. There is an increasing need for ophthalmologists to keep abreast ...
retinopathies and indeed over 150 different mutations in the rhodopsin gene alone have been identified in patients with autosomal dominant retinitis pigmentosa . Employing next-generation sequencing to characterise ...
Inherited retinal dystrophies (IRDs) are a heterogeneous group of degenerative disorders of the retina. Retinitis Pigmentosa (RP) is a common type of IRD that causes night blindness and loss ...
blindness. This is a rare disease with mutations in several genes and high genetic heterogeneity . A challenging effort has been the characterization of the molecular mechanisms underlying photoreceptor cell ...
PurposeAmong the 500 ABCA4 mutations identified so far in the retina-specific ABC transporter (ABCA4) gene, only 20 have been described in patients with autosomal recessive retinitis pigmentosa (arRP ...
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