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   Articles with "pigmentosa" as a keyword



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Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa

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recommendations! Published in 2019 at "International Ophthalmology"

DOI: 10.1007/s10792-019-01099-4

Abstract: PurposeRetinitis pigmentosa (RP) is the most common hereditary retinal degeneration and an important cause of visual disability worldwide. Rhodopsin gene is one of the most important genes implicated in autosomal dominant RP (ADRP). In this… read more here.

Keywords: pigmentosa; iranian patients; autosomal dominant; rhodopsin gene ... See more keywords
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Clinical Presentation and Demographic Distribution of Retinitis Pigmentosa in India and Implications for Potential Treatments: Electronic Medical Records Driven Big Data Analytics: Report I.

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recommendations! Published in 2021 at "Seminars in ophthalmology"

DOI: 10.1080/08820538.2021.1957126

Abstract: AimTo describe the clinical presentation and demographic distribution of retinitis pigmentosa in patients presenting to a multi-tier ophthalmology hospital network in India and implications for potential treatments.DesignCross-sectional hospital-based study.MethodsThis study included 2,541,810 patients presenting between… read more here.

Keywords: presentation demographic; ophthalmology; retinitis pigmentosa; pigmentosa ... See more keywords
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An inside look at prurigo pigmentosa: case report from Ukraine

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recommendations! Published in 2019 at "International Journal of Dermatology"

DOI: 10.1111/ijd.14175

Abstract: Prurigo pigmentosa (PP), or Nagashima’s disease, is considered a rare inflammatory dermatosis of unknown etiology characterized by recurrent, pruritic erythematous papules and gross reticulate hyperpigmentation. PP was described in 1971 by Nagashima et al. as… read more here.

Keywords: prurigo pigmentosa; pigmentosa case; pigmentosa; look prurigo ... See more keywords
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Longitudinal Study of Pediatric Urticaria Pigmentosa

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recommendations! Published in 2017 at "Pediatric Dermatology"

DOI: 10.1111/pde.13066

Abstract: Urticaria pigmentosa (UP) is the most common form of mastocytosis in children and is associated with systemic signs, symptoms, and triggers. To our knowledge, the effect of UP on children's quality of life has not… read more here.

Keywords: study pediatric; urticaria pigmentosa; pediatric urticaria; pigmentosa ... See more keywords
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CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago

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recommendations! Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.804924

Abstract: Background: A CLCC1 c. 75C > A (p.D25E) mutation has been associated with autosomal recessive pigmentosa in patients in and from Pakistan. CLCC1 is ubiquitously expressed, and knockout models of this gene in zebrafish and… read more here.

Keywords: founder; pigmentosa; retinitis pigmentosa; 000 years ... See more keywords