Retinitis pigmentosa (RP) refers to a group of inherited disorders in which abnormalities of
the photoreceptors (rods and cones) of the retina lead to progressive visual loss. RP is …

Bardet-Biedl Syndrome Overview - Abstract - Europe PMC Sign in | Create an account https://orcid.org
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Purpose Inherited retinal disease (IRD) is a leading cause of blindness. Recent advances in
gene-directed therapies highlight the importance of understanding the genetic basis of these …

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews®
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Abstract Background 5'untranslated regions (5'UTRs) are essential modulators of protein
translation. Predicting the impact of 5'UTR variants is challenging and rarely performed in …

NDP-related retinopathies typically involve bilateral and symmetric fibrovascular changes of
the retina that are evident at birth and usually progress through childhood or adolescence to …

Importance Despite advances in next-generation sequencing (NGS), a significant proportion
of patients with inherited retinal disease (IRD) remain undiagnosed after initial genetic …

Exploring non-coding regions is increasingly gaining importance in the diagnosis of
inherited retinal dystrophies. Deep-intronic variants causing aberrant splicing have been …

Diagnostic Odyssey of More than 1000 Patients with Inherited Retinal Diseases - Ophthalmology
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The purpose of this study was to assess the added diagnostic value of whole genome
sequencing (WGS) for patients with inherited retinal diseases (IRDs) who remained …