ArticleInvestigative ophthalmology & visual science2010
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
Article in Investigative ophthalmology & visual science, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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59 citing papers in PubMed, 111 citations in OpenAlex.
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- A 15 bp non-canonical splice-site deletion in ABCA4 linked with retinitis pigmentosa and myopia: insights into splicing defects and phenotypic variability.Molecular biology reports · 2025Article
- Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Genetic Landscape of Nonsyndromic Retinitis Pigmentosa in Portugal.Advances in experimental medicine and biology · 2025Review
- Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.Stem cell research & therapy · 2024Article
- CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.Ophthalmology. Retina · 2023Article
- Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.Diagnostics (Basel, Switzerland) · 2023Article
- Four different gene-related cone-rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance.Frontiers in genetics · 2023Article
- Depletion of miR-96 Delays, But Does Not Arrest, Photoreceptor Development in Mice.Investigative ophthalmology & visual science · 2022Article
- MutatedInternational journal of molecular sciences · 2021Article
- Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.Orphanet journal of rare diseases · 2021Review
- Deletion ofInternational journal of ophthalmology · 2021Article
- Electrophysiological and Pupillometric Abnormalities in PROM1 Cone-Rod Dystrophy.Translational vision science & technology · 2020Article
- A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype.Investigative ophthalmology & visual science · 2020Article
- Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.Scientific reports · 2020Article
- Transducin Partners Outside the Phototransduction Pathway.Frontiers in cellular neuroscience · 2020Article
- Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration.The Journal of biological chemistry · 2019Article
- Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.JAMA network open · 2019Article
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18 authors at 11 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients.
methodsOne hundred thirty-nine patients with diagnosed CRD were recruited. Ninety of them were screened for known mutations in ABCA4, and those carrying one or two mutations were excluded from further research. Genome-wide homozygosity mapping was performed in the remaining 108. Known genes associated with autosomal recessive retinal dystrophies located within a homozygous region were screened for mutations. Patients in whom a mutation was detected underwent further ophthalmic examination.
resultsHomozygous sequence variants were identified in eight CRD families, six of which were nonconsanguineous. The variants were detected in the following six genes: ABCA4, CABP4, CERKL, EYS, KCNV2, and PROM1. Patients carrying mutations in ABCA4, CERKL, and PROM1 had typical CRD symptoms, but a variety of retinal appearances on funduscopy, optical coherence tomography, and autofluorescence imaging.
conclusionsHomozygosity mapping led to the identification of new mutations in consanguineous and nonconsanguineous patients with retinal dystrophy. Detailed clinical characterization revealed a variety of retinal appearances, ranging from nearly normal to extensive retinal remodeling, retinal thinning, and debris accumulation. Although CRD was initially diagnosed in all patients, the molecular findings led to a reappraisal of the diagnosis in patients carrying mutations in EYS, CABP4, and KCNV2.
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