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    Genetic mutation findings in Spanish retinitis pigmentosa

    New findings about a genetic mutation could lead to better clinical management and genetic counselling of families susceptible to retinitis pigmentosa, researchers said.

    New findings about a genetic mutation could lead to better clinical management and genetic counselling of families susceptible to retinitis pigmentosa, researchers said.

    Gly56Arg in the NR2E3 gene is a common mutation associated with autosomal-dominant retinitis pigmentosa, wrote Fiona Blanco-Kelly of the Genetics Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital, Madrid, Spain, and colleagues.

    They found a prevalence of 3.5% for the mutation of the NR2E3 gene among 201 unrelated Spanish families. Night blindness was the first noticeable symptom, followed by visual field loss and loss of visual acuity.

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    They published their findings in PLOS One. It is the largest NR2E3 genotype-phenotype correlation study performed to date in autosomal dominant retinitis pigmentosa, they said.

    Retinitis pigmentosa is the most common form of inherited retinopathy, affecting 1 in 4000 people.

    It is characterized by pigment deposits and progressive loss of photoreceptors, predominantly in the peripheral retina.

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    Researchers have identified 69 genes that, when mutated, can cause retinitis pigmentosa, separate from other syndromes that may also cause the disorder.

    Inheritance patterns may be autosomal dominant, autosomal recessive, X-linked, and maternal (mitochondrial), depending on the specific retinosa pigmentosa gene mutations present in the parental generation.

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    In Spain, the autosomal dominant form occurs in about 15% of families with retinitis pigmentosa, and 29 genes have been associated with it.

    NR2E3 gene

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