ArticleEye (London, England)2010
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
Article in Eye (London, England), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 28 citations in OpenAlex.
- Review
- Analysis ofFrontiers in genetics · 2022Article
- The Ocular Gene Delivery Landscape.Biomolecules · 2021Review
- X-linked dominant RPGR gene mutation in a familial Coats angiomatosis.BMC ophthalmology · 2021Article
- Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGRFrontiers in genetics · 2021Article
- Genotype-Phenotype Analysis ofFrontiers in genetics · 2021Article
- Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.Investigative ophthalmology & visual science · 2020Article
- De Novo Assembly-Based Analysis ofGenes · 2020Article
- Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa.BMC ophthalmology · 2019Article
- An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles.Clinics (Sao Paulo, Brazil) · 2017Observational
- Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.Scientific reports · 2016Article
- Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.Human molecular genetics · 2016Article
- Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice.Cytoskeleton (Hoboken, N.J.) · 2015Article
- Article
- Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.Cold Spring Harbor perspectives in medicine · 2014Review
- Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.Molecular vision · 2014Article
- Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.JAMA ophthalmology · 2013Article
- Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.Investigative ophthalmology & visual science · 2012Article
- Cell replacement and visual restoration by retinal sheet transplants.Progress in retinal and eye research · 2012Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
purposeTo document the progression of disease in male and female members of a previously described family with X-linked dominant retinitis pigmentosa (RP) caused by a de novo insertion after nucleotide 173 in exon ORF15 of RPGR.
methodsThe clinical records of 19 members of family UTAD054 were reviewed. Their evaluations consisted of confirmation of family history, standardised electroretinograms (ERGs), Goldmann visual fields, and periodic ophthalmological examinations over a 23-year period.
resultsMale members of family UTAD054 had non-recordable to barely recordable ERGs from early childhood. The males showed contracted central fields and developed more severe retinopathy than the females. The female members showed a disease onset delayed to teenage years, recordable but diminishing photopic and scotopic ERG amplitudes in a cone-rod pattern, progressive loss and often asymmetric visual fields, and diffuse atrophic retinopathy with fewer pigment deposits compared with males.
conclusionsThis insertion mutation in the RPGR exon ORF15 is associated with a RP phenotype that severely affects males early and females by 30 years of age, and is highly penetrant in female members. Families with dominant-acting RPGR mutations may be mistaken to have an autosomal mode of inheritance resulting in an incorrect prediction of recurrence risk and prognosis. Broader recognition of X-linked RP forms with dominant inheritance is necessary to facilitate appropriate counselling of these patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.