Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa

Schuster, Andreas

doi:10.1136/bjo.2004.063933

Cited by 19 publications

(13 citation statements)

References 37 publications

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“…Mutations that affect RHO transport tend to manifest as more severe degenerations than D190N, which prolongs RHO signaling 11, 12. It has also been suggested that cytoplasmic and extracellular mutations in RHO such as D190N have less severe pheontypes than transmembrane mutations 36.…”

Section: Discussionmentioning

confidence: 99%

Phenotype-Genotype Correlations in Autosomal Dominant Retinitis Pigmentosa Caused by RHO, D190N

Tsui

Chou

Palmer

et al. 2008

Current Eye Research

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Purpose-To phenotype a family with RHO (Asp190Asn or D190N) dominantly inherited retinitis pigmentosa (RP) and to describe an approach to surveying affected families.Methods-Four patients from a family with a history of autosomal dominant RP had complete clinical examinations and underwent full-field electroretinography (ERG), fundus autofluorescence (AF) imaging, and genetic testing. One patient had microperimetry (MP) mapping.Results-The patients' ages ranged from 6 years old to 47 years old. The proband, the father, had fundoscopic findings typical of RP. A small, hyperfluorescent ring centered at the fovea was apparent on AF. MP showed preservation of central 7 degrees of visual field within this ring. The three children were all asymptomatic with visual acuity of 20/15 in each eye. One child had mild retinal pigment epithelium migration on fundoscopy; the other two children had normal fundoscopic examinations. Two children showed increased parafoveal AF. In the two affected children, average ERG b-wave implicit times were delayed in scotopic conditions and maximal ERG tracings had abnormal waveforms. Genetic analysis confirmed that two of three asymptomatic children carried the D190N allele.Conclusions-Patients with RHO (D190N) adRP can show classic signs of RP on fundus examination and may be able to maintain good central visual acuity into adulthood. By combining clinical examination with AF imaging and electrophysiology, it is possible to offer presymptomatic clinical evaluation to families with this RP.

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Section: Discussionmentioning

confidence: 99%

Phenotype-Genotype Correlations in Autosomal Dominant Retinitis Pigmentosa Caused by RHO, D190N

Tsui

Chou

Palmer

et al. 2008

Current Eye Research

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“…Another 12 genes are also known to cause adRP. Among these, mutations in the RP1 (retinitis pigmentosa 1), RDS ⁄ peripherin (retinal degeneration slow ⁄ peripherin) and IMPDH1 (inosine monophosphate dehydrogenase 1) genes are the most frequently occurring (Schuster et al 2005).…”

Section: Introductionmentioning

confidence: 99%

Autosomal dominant retinitis pigmentosa in Norway: a 20‐year clinical follow‐up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F

Grøndahl

Riise

Heiberg

et al. 2006

Acta Ophthalmologica Scandinavica

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“…These findings support previous research in suggesting that extracellular mutations cause milder phenotypes in RHO-associated RP. [23][24][25] The differences in disease expression between affected domains can be attributed to the biochemical defects caused by the mutations within these domains, although external modifiers such as increased light exposure, especially in the development of sector RP, may also play a role. 2,7 A limitation of this study is its retrospective nature, which limited a complete ascertainment of clinical data.…”

Section: Discussionmentioning

confidence: 99%

Clinical Characteristics and Natural History of Rho-Associated Retinitis Pigmentosa

Nguyen

Talib

Cauwenbergh

et al. 2020

Retina

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Purpose: To investigate the natural history of RHO-associated retinitis pigmentosa (RP). Methods: A multicenter, medical chart review of 100 patients with autosomal dominant RHO-associated RP. Results: Based on visual fields, time-to-event analysis revealed median ages of 52 and 79 years to reach low vision (central visual field ,20°) and blindness (central visual field ,10°), respectively. For the best-corrected visual acuity (BCVA), the median age to reach mild impairment (20/67 # BCVA , 20/40) was 72 years, whereas this could not be computed for lower acuities. Disease progression was significantly faster in patients with a generalized RP phenotype (n = 75; 75%) than that in patients with a sector RP phenotype (n = 25; 25%), in terms of decline rates of the BCVA (P , 0.001) and V4e retinal seeing areas (P , 0.005). The foveal thickness of the photoreceptor-retinal pigment epithelium (PR + RPE) complex correlated significantly with BCVA (Spearman's r = 0.733; P , 0.001). Conclusion: Based on central visual fields, the optimal window of intervention for RHOassociated RP is before the 5th decade of life. Significant differences in disease progression are present between generalized and sector RP phenotypes. Our findings suggest that the PR + RPE complex is a potential surrogate endpoint for the BCVA in future studies.

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Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa

Cited by 19 publications

References 37 publications

Phenotype-Genotype Correlations in Autosomal Dominant Retinitis Pigmentosa Caused by RHO, D190N

Phenotype-Genotype Correlations in Autosomal Dominant Retinitis Pigmentosa Caused by RHO, D190N

Autosomal dominant retinitis pigmentosa in Norway: a 20‐year clinical follow‐up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F

Clinical Characteristics and Natural History of Rho-Associated Retinitis Pigmentosa

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