A mutation associated with the autosomal-dominant form discovered.
New discoveries about the genetic mutations that contribute to Retinitis Pigmentosa may lead to better management of this serious disease clinically and be useful for appropriate genetic counselling for families at risk.
This is the view of Fiona Blanco-Kelly from the Department of Genetics of the Instituto de Investigación Sanitaria-Fundación Jimenez Diaz at the University of Madrid (Spain) and the team of researchers who identified the p.Gly56Arg mutation of the NR2E3 gene as a common element associated with autosomal-dominant retinitis pigmentosa.
A 3.5% prevalence of the NR2E3 gene mutation was found among 201 unrelated Spanish families.
Night blindness was the first symptom detected, followed by loss of visual field and then by reduced visual acuity.
Data from this genotype-phenotype correlation study, the largest to date for autosomal dominant retinitis pigmentosa, have been published in the journal PLOS One.
Retinitis pigmentosa is the most common form of hereditary retinopathy and affects 1 in 4,000 people. It is characterised by pigment deposits and a progressive loss of photoreceptors, mainly in the peripheral retina.
Researchers have identified 69 genes, which mutated, can cause retinitis pigmentosa, apart from other syndromes that can also cause the disease.
The patterns of inheritance can be autosomal dominant, autosomal recessive, X-linked and mitochondrial, depending on the specific genetic mutations present in the parents' generation.
In Spain, the autosomal dominant form occurs in approximately 1% of families affected by retinitis pigmentosa and 29 genes have been associated with this type.
The prevalence of 3.5 % makes the p.Gly56Arg mutation the second most common single mutation identified in the cohort of patients with autosomal dominant retinitis pigmentosa.
Fiona Blanco-Kelly and her colleagues said these findings may help clinicians use genetic analysis to identify who is at risk of retinitis pigmentosa and how these patients can expect their disease to progress over time.
For more details see article in full on PLOS One.
Dr. Carmelo Chines
Direttore responsabile
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