Retinitis pigmentosa definition

Retinitis pigmentosa means a chronic progressive inflammation of the retina with atrophy and pigmentary infiltration of the inner layers of the retina.
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Examples of Retinitis pigmentosa in a sentence

  • Retinitis pigmentosa GTPase regulator (RPGR)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium.

  • J Med Genet 2003;40:609–615 Retinitis pigmentosa (RP) is a progressive retinal degen- eration that affects about 1 in 4000 of the population.1 Approximately 15-30% of patients with RP have X linked retinitis pigmentosa (XLRP), which is the most severe form of RP consistently manifesting early in life.2 3 Night blindness is usually present in early childhood with loss of peripheral visual fields and ultimately central vision, resulting in registered blindness by the end of the third decade.

  • Retinitis pigmentosa, a symposium on terminology and methods of examination.

  • Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

  • Roska B, Busskamp V, Sahel JA, Picaud S (2013) [Retinitis pigmentosa: Eye sight res- toration by optogenetic therapy].

  • Cell adhesion and signaling, Cell polarity and tissue patterning, Diseases associated with cell-cell junctions including rare diseases like Retinitis pigmentosa type 12 and modulation of cellular junctions by pathogens.

  • Retinitis pigmentosa, the most prevalent form of inherited blindness in adults, represents one such disease that is primarily the consequence of mutations in splice sites of vision-relevant transcripts or splicing factors re- sponsible for their recognition (reviewed in ref.

  • Overall, on the Retinitis pigmentosa test family, KinLinks has a false positive rate of 6% and an overall false negative rate of 24%, where the false negative rate is the defined as the failure to identify a relationship among two individuals with relationship of degree 5 or lower.

  • In phase 2, the ALS samples were added to the training dataset, and algorithm performance was evaluated on the 2652 pairwise relationships within the Retinitis pigmentosa family.

  • These include the Family 95 pedigree of 43 individuals across three generations, the ALS NINDS0760 family of 30 individuals across 4 generations, the Retinitis pigmentosa families 2110 and 2111 of 52 individuals across 6 generations (Figure1a), and 54 geographically diverse samples.

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