Trial reportThe British journal of ophthalmology2003
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.
Trial report in The British journal of ophthalmology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 46 citations in OpenAlex.
- Coexistence of MRCS syndrome, extremely long axis and exfoliation syndrome: a case report and literature review.BMC ophthalmology · 2023Review
- Variable expressivity ofBMJ open ophthalmology · 2021Article
- Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT.Documenta ophthalmologica. Advances in ophthalmology · 2018Article
- Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder.Translational psychiatry · 2018Article
- Bestrophin 1 and retinal disease.Progress in retinal and eye research · 2017Review
- Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.Documenta ophthalmologica. Advances in ophthalmology · 2014Article
- Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.Molecular vision · 2014Article
- Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.Eye (London, England) · 2011Article
- Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.Molecular vision · 2011Article
- An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.Molecular vision · 2009Article
- Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies.Therapeutic advances in ophthalmologyReview
- Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyArticle
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo phenotype and genetically map the disease locus in a family presenting with autosomal dominant microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.
methodsSix affected and three unaffected members of the pedigree were examined. All individuals provided a history and underwent a full clinical examination with A-scan and B-scan ultrasonography and electrophysiological testing where appropriate. PCR based microsatellite marker genotyping using a positional candidate gene approach was then performed on DNA samples extracted from venous blood provided by each subject.
resultsThe disorder is inherited as an autosomal dominant trait with variable expressivity and has a complex phenotype. Affected individuals had bilateral microcornea, pulverulent-like lens opacities, a rod-cone dystrophy and posterior staphyloma (MRCS). Using a positional candidate gene approach, the authors have evidence suggestive of linkage of this disorder to a region on 11q13 within the nanophthalmos 1 (NNO1) genetic interval. The small family size militates against achieving a LOD score of 3, but the haplotype data and the position of the putative MRCS locus within a known nanophthalmos locus are suggestive of linkage. A candidate gene within this region (ROM1) was screened and no mutations were found in affected members of the family.
conclusionThis rare developmental disorder has some phenotypic similarities to nanophthalmos and possibly maps to a locus within the genetic interval encompassing the NNO1 locus. Screening of candidate genes within this region continues.
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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.