The unmasking of recessive mutations by virtue of biparental inheritance of the same
ancestral haplotype on which they reside (autozygosity) has provided human geneticists …

Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. It is the most
common form of inherited retinal dystrophy, characterized by progressive degradation of …

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of
photoreceptor function and contributes significantly to the etiology of blindness globally but …

Objectives Current technologies for delivering gene testing are labour-intensive and
expensive. Over the last 3 years, new high-throughput DNA sequencing techniques (next …

Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD)
characterized ultimately by photoreceptors degeneration. Exhibiting great clinical and …

Background Retinal dystrophies (RD) are a group of hereditary diseases that lead to
debilitating visual impairment and are usually transmitted as a Mendelian trait. Pathogenic …

Purpose Autosomal recessive retinitis pigmentosa (arRP) is a genetically heterogeneous
disease resulting in progressive loss of photoreceptors that leads to blindness. To date, 36 …

Purpose To determine the genetic background of sector retinitis pigmentosa (RP) natural
history to better inform patient counseling. Design Retrospective case series. Methods …

There are an estimated 5000 people in Ireland who currently have an inherited retinal
degeneration (IRD). It is the goal of this study, through genetic diagnosis, to better enable …

Consanguineous populations of the Arabian Peninsula have been underrepresented in
global efforts that catalogue human exome variability. We sequenced 291 whole exomes of …