Dataset Information

Sector Retinitis Pigmentosa caused by mutations of the RHO gene.

ABSTRACT:

Background

Sector retinitis pigmentosa (RP) is an atypical form of RP in which only one or two quadrants of the retina are involved. The objectives of this study were to report the results of a molecular screening of five unrelated Chinese patients with sector RP and describe the clinical features observed in patients with RHO mutations.

Methods

Five probands that were clinically diagnosed with sector RP were recruited for genetic analysis. They underwent ophthalmic examinations, including best corrected visual acuity, fundus examination, visual field examinations, and electroretinography. A combination of molecular screening methods, including the targeted next-generation sequencing (TES) and sanger-DNA sequencing of RHO, were used to detect mutations. In silico programs were used to analyze the pathogenicity of all the variants.

Results

Three RHO missense mutations (p.T17M, p.L31Q, and p.G106R) were identified in the five unrelated probands. The novel mutation p.L31Q was detected in three unrelated probands. All patients showed bilateral and symmetrical retinal degeneration in the inferior retina and had relatively good visual acuity. Patients with the p.L31Q mutation showed phenotypic variability and variable penetrance.

Conclusion

Our results indicate that RHO mutations are also common in Chinese patients with sector RP. The RHO gene should be given priority during mutation screening analysis for Chinese patients with sector RP.

SUBMITTER: Xiao T

PROVIDER: S-EPMC6461763 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

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Publications

Sector Retinitis Pigmentosa caused by mutations of the RHO gene.

Xiao Ting T Xu Ke K Zhang Xiaohui X Xie Yue Y Li Yang Y

Eye (London, England) 20181102 4

<h4>Background</h4>Sector retinitis pigmentosa (RP) is an atypical form of RP in which only one or two quadrants of the retina are involved. The objectives of this study were to report the results of a molecular screening of five unrelated Chinese patients with sector RP and describe the clinical features observed in patients with RHO mutations.<h4>Methods</h4>Five probands that were clinically diagnosed with sector RP were recruited for genetic analysis. They underwent ophthalmic examinations, ...[more]

PMID: 30390055

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Project description:ImportanceFor patients with X-linked retinitis pigmentosa and clinicians alike, phenotypic variability can be challenging because it complicates counseling regarding patients' likely visual prognosis.ObjectiveTo evaluate the clinical findings from patients with X-linked retinitis pigmentosa with 13 distinct RPGR mutations and assess for phenotypic concordance or variability.DesignRetrospective medical record review of data collected from 1985 to 2011.SettingKellogg Eye Center, University of Michigan.PatientsA total of 42 patients with X-linked retinitis pigmentosa with mutations in RPGR. Age at first visit ranged from 4 to 53 years, with follow-up ranging from 1 to 11 visits (median follow-up time, 5.5 years; range, 1.4-32.7 years, for 23 patients with >1 visit).Main outcomes and measuresClinical data assessed for concordance included visual acuity (VA), Goldmann visual fields (GVFs), and full-field electroretinography (ERG). Electroretinography phenotype (cone-rod vs rod-cone dysfunction) was defined by the extent of photopic vs scotopic abnormality. Qualitative GVF phenotype was determined by the GVF pattern, where central or peripheral loss suggested cone or rod dysfunction, respectively. Goldmann visual fields were also quantified and compared among patients.ResultsEach mutation was detected in 2 or more related or unrelated patients. Five mutations in 11 patients displayed strong concordance of VA, while 4 mutations in 16 patients revealed moderate concordance of VA. A definitive cone-rod or rod-cone ERG pattern consistent among patients was found in 6 of 13 mutations (46.2%); the remaining mutations were characterized by patients demonstrating both phenotypes or who had limited data or nonrecordable ERG values. Concordant GVF phenotypes (7 rod-cone pattern vs 4 cone-rod pattern) were seen in 11 of 13 mutations (84.6%). All 6 mutations displaying a constant ERG pattern within the mutation group revealed a GVF phenotype consistent with the ERG findings.Conclusions and relevanceWhile VA and ERG phenotypes are concordant in only some patients carrying identical mutations, assessment of GVF phenotypes revealed stronger phenotypic conservation. Phenotypic concordance is important for establishing proper counseling of patients diagnosed as having X-linked retinitis pigmentosa, as well as for establishing accurate patient selection and efficacy monitoring in therapeutic trials.

Dataset Information

Sector Retinitis Pigmentosa caused by mutations of the RHO gene.

Background

Methods

Results

Conclusion

Publications

Sector Retinitis Pigmentosa caused by mutations of the RHO gene.

Similar Datasets

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