ArticleScientific reports2022
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 17 citations in OpenAlex.
- Genetic characterization of inherited retinal dystrophy in a Northwestern Chinese cohort: A single-center study over a 5-year period in Shaanxi, China.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Prediction of Postoperative Length of Stay in Patients with Hip Fracture: A Two-Stage Machine Learning Approach.Healthcare informatics research · 2026Article
- Machine Learning-Based Classification of Active and Latent Phases of Inherited Retinal Dystrophies Using Synthetic Proteomic Data: A Pathway-Based Application Exercise.Healthcare informatics research · 2026Article
- Low population penetrance of variants associated with inherited retinal degenerations.American journal of human genetics · 2026Article
- AnInternational journal of ophthalmology · 2026Article
- Genotype-Phenotype Correlations inGenes · 2025Article
- Cone Rod Homeobox (Ophthalmic genetics · 2025Review
- Effect of the Mediterranean Diet (MeDi) on the Progression of Retinal Disease: A Narrative Review.Nutrients · 2024Review
- Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.Genes · 2024Article
- Novel and Recurrent Copy Number Variants inInternational journal of molecular sciences · 2024Article
- A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts.BMC medical genomics · 2024Article
- Personalizing Nutrition Strategies: Bridging Research and Public Health.Journal of personalized medicine · 2024Review
- Article
- Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.Scientific reports · 2022Article
- Identification of a novel large multigene deletion and a frameshift indel inCold Spring Harbor molecular case studies · 2022Article
- Multimodal Study ofDiagnostics (Basel, Switzerland) · 2022Article
- Dietary supplements in retinal diseases, glaucoma, and other ocular conditions.Journal of preventive medicine and hygiene · 2022Review
- Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.Frontiers in genetics · 2022Article
- Stargardt Disease Due to an Intronic Mutation in theInternational medical case reports journal · 2022Article
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two-hundred and thirty-four Italian patients with a clinical diagnosis of macular, cone and cone-rod dystrophies (MD, CD, and CRD) were examined using next-generation sequencing (NGS) and gene sequencing panels targeting a specific set of genes, Sanger sequencing and-when necessary-multiplex ligation-dependent probe amplification (MLPA) to diagnose the molecular cause of the aforementioned diseases. When possible, segregation analysis was performed in order to confirm unsolved cases. Each patient's retinal phenotypic characteristics were determined using focal and full-field ERGs, perimetry, spectral domain optical coherence tomography and fundus autofluorescence. We identified 236 potentially causative variants in 136 patients representing the 58.1% of the total cohort, 43 of which were unpublished. After stratifying the patients according to their clinical suspicion, the diagnostic yield was 62.5% and 53.8% for patients with MD and for those with CD/CRD, respectively. The mode of inheritance of all cases confirmed by genetic analysis was 70% autosomal recessive, 26% dominant, and 4% X-linked. The main cause (59%) of both MD and CD/CRD cases was the presence of variants in the ABCA4 gene, followed by variants in PRPH2 (9%) and BEST1 (6%). A careful morpho-functional evaluation of the phenotype, together with genetic counselling, resulted in an acceptable diagnostic yield in a large cohort of Italian patients. Our study emphasizes the role of targeted NGS to diagnose MDs, CDs, and CRDs, as well as the clinical usefulness of segregation analysis for patients with unsolved diagnosis.
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