ReviewMolecular syndromology2017
Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.
Review in Molecular syndromology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 83 citations in OpenAlex.
- Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients.Molecular genetics & genomic medicine · 2026Article
- Clinical and Surgical Implications of Genotype-Phenotype Correlations in Congenital Ectopia Lentis: A Real-World Cohort Study.Investigative ophthalmology & visual science · 2026Article
- CHOPS Syndrome: A Rare Malformation Syndrome with de novo AFF4 Gene Variant.Molecular syndromology · 2026Article
- The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype-Phenotype Correlations, and Bioinformatic Analysis.Journal of clinical medicine · 2026Article
- Mutation screening of γ-crystallin gene in congenital cataract patients from North India.Indian journal of ophthalmology · 2026Article
- Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.Biomedicines · 2025Article
- Cataract-Causing Mutant R188C of βB2 Crystallin With Low Structural Stability is Sensitive to Environmental Stresses and Prone to Aggregates Formation.Exploration (Beijing, China) · 2025Article
- Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing.Scientific reports · 2024Article
- A Case Report of a Filipino Boy with Childhood Cataract and Clinically Diagnosed Roberts Syndrome.Acta medica Philippina · 2024Article
- Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.International ophthalmology · 2023Article
- D348N Mutation of BFSP1 Gene in Congenital Cataract: it Does Matter.Cell biochemistry and biophysics · 2023Article
- NovelInternational journal of molecular sciences · 2023Article
- Mutational spectrum in a Chinese cohort with congenital cataracts.Molecular genetics & genomic medicine · 2023Article
- Familial Cataracts: Profile of Patients and Their Families at a Child Eye Care Tertiary Facility in a Developing Country.Korean journal of ophthalmology : KJO · 2023Article
- Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.Orphanet journal of rare diseases · 2023Article
- Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.BMC oral health · 2023Article
- Hotspots and frontiers of genetic research on pediatric cataracts from 2013 to 2022: a scientometric analysis.International journal of ophthalmology · 2023Article
- Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family.Cureus · 2023Article
- Burden and clinical profile of genetic eye diseases in children in Nigeria: a descriptive cross-sectional study.The Pan African medical journal · 2023Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cataracts are the principal cause of treatable blindness worldwide. Inherited congenital cataract (CC) shows all types of inheritance patterns in a syndromic and nonsyndromic form. There are more than 100 genes associated with cataract with a predominance of autosomal dominant inheritance. A cataract is defined as an opacity of the lens producing a variation of the refractive index of the lens. This variation derives from modifications in the lens structure resulting in light scattering, frequently a consequence of a significant concentration of high-molecular-weight protein aggregates. The aim of this review is to introduce a guide to identify the gene involved in inherited CC. Due to the manifold clinical and genetic heterogeneity, we discarded the cataract phenotype as a cardinal sign; a 4-group classification with the genes implicated in inherited CC is proposed. We consider that this classification will assist in identifying the probable gene involved in inherited CC.
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