ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2004
Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.
Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 59 citations in OpenAlex.
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- Modulation of flash ERGs by dynamic backgrounds.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Analysis of imaging biomarkers and retinal nerve fiber layer thickness in RPGR-associated retinitis pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2021Article
- Genotype-Phenotype Analysis ofFrontiers in genetics · 2021Article
- Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies.Ophthalmology and therapy · 2020Review
- X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.International journal of molecular sciences · 2019Article
- CELLULAR IMAGING OF THE TAPETAL-LIKE REFLEX IN CARRIERS OF RPGR-ASSOCIATED RETINOPATHY.Retina (Philadelphia, Pa.) · 2019Article
- Wide-field fundus autofluorescence imaging in patients with hereditary retinal degeneration: a literature review.International journal of retina and vitreous · 2019Review
- [Imaging and molecular genetic diagnostics for the characterization of retinal dystrophies].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2018Review
- Gene therapy for the treatment of X-linked retinitis pigmentosa.Expert opinion on orphan drugs · 2018Article
- Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.PloS one · 2018Article
- Radial fundus autofluorescence in the periphery in patients with X-linked retinitis pigmentosa.Clinical ophthalmology (Auckland, N.Z.) · 2015Article
- The role of fundus autofluorescence in late-onset retinitis pigmentosa (LORP) diagnosis.Ophthalmic genetics · 2014Article
- Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.Human molecular genetics · 2014Article
- Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa.Molecular vision · 2014Article
- Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.European journal of human genetics : EJHG · 2013Article
- Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.Experimental eye research · 2013Article
- A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?Molecular vision · 2012Article
- Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.Eye (London, England) · 2010Article
- Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.Molecular vision · 2010Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe fundus autofluorescence (AF) in carriers of X-linked retinitis pigmentosa (XLRP) associated with mutations in RPGR (RP3), and to compare the findings on AF with ophthalmoscopy and with electrophysiological and psychophysical data.
methodsEleven carriers from two families with XLRP and mutations in RPGR underwent clinical examination including fundus photography, AF, full-field electroretinography, Goldmann kinetic perimetry and two-colour threshold perimetry (2CT perimetry).
resultsAn abnormal AF pattern was found in 9 of 11 carriers, with a radial pattern in 6 of 11. In 2CT perimetry patchy rod and cone sensitivity losses were seen in 7 of 8 carriers. Rods tended to be more affected than cones. The areas of sensitivity loss showed some correspondence with the abnormalities seen on AF.
conclusionAF had a specific pattern in 9 of 11 carriers from two families with mutations in RPGR. The result was independent of the family investigated. The radial pattern may be explained by random X-inactivation early during embryogenesis subsequently preserved in all daughter cells and the centrifugal radial growth pattern of the developing neuroretina. AF may prove to be a rapid and easy clinical test to identify carriers of RP3.
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