Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.

Genes - 21 Jan 2021

Bell Suzannah, Malka Samantha, Lloyd Ian Christopher, Moosajee Mariya

Abstract excerpt

Childhood cataract affects 2.5-3.5 per 10,000 children in the UK, with a genetic mutation identified in 50-90% of bilateral cases. However, cataracts can also manifest in adolescence and early adulthood in isolation, as part of a complex ocular phenotype or with systemic features making accurate diagnosis more challenging. We investigate our real-world experience through a retrospective review of consecutive...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age Factors
Share to Cataract
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Share to Infant, Newborn

Source

Open in PubMed Open full text

Identifiers

PMID: 33494148
DOI: 10.3390/genes12020131
PMCID: PMC7909819

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.PMID 33494148Read ↗

Congenital cataract: a guide to genetic and clinical managementSemantic proximity Read ↗

Genetic Analysis in a Swiss Cohort of Bilateral Congenital CataractSemantic proximity Read ↗

Identification of 4 Novel Variants in 19 Families with Congenital CataractsSemantic proximity Read ↗

Indications for Systemic and Genetic Testing in Patients with Congenital Cataracts.Semantic proximity Read ↗

Congenital Cataract and Its Genetics: The Era of Next-Generation SequencingSemantic proximity Read ↗

Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approachesSemantic proximity Read ↗

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.Semantic proximity Read ↗

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.Semantic proximity Read ↗

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.Semantic proximity Read ↗

Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.Semantic proximity Read ↗

The genetic landscape of crystallins in congenital cataractSemantic proximity Read ↗

Genomic Approaches to Diagnosis in Congenital and Developmental Cataract: Comparison of Panel Versus Whole Genome Sequencing, Diagnostic Yield, Variant Spectrum, Genotype-Phenotype Correlations, and Implications for Counseling.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.