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

Familial acorea, microphthalmia and cataract syndrome.

The British journal of ophthalmology - 1 Sept 2013

Kondo Hiroyuki, Tahira Tomoko, Yamamoto Ken, Tawara Akihiko

Abstract excerpt

PURPOSE: To describe the clinical features of members of a family with acorea, microphthalmia and cataract syndrome. In addition, to perform linkage analysis on family members to determine possible candidate genes. METHODS: Comprehensive ophthalmic examinations were performed on five affected members of a family consisting of a paternal grandmother, father and three children. In addition, DNA was extracted from...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Cataract
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Genetic Linkage

Share to Microphthalmos

Share to Polymorphism, Single Nucleotide

Share to Syndrome

Source

Identifiers

PMID: 23832966
DOI: 10.1136/bjophthalmol-2013-303165

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial acorea, microphthalmia and cataract syndrome.PMID 23832966Read ↗

Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directionsSemantic proximity Read ↗

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

Conserved genetic pathways associated with microphthalmia, anophthalmia, and colobomaSemantic proximity Read ↗

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

Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.Semantic proximity Read ↗

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

Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic FeaturesSemantic proximity Read ↗

Strategies for Gene Mapping in Inherited Ophthalmic Diseases.Semantic proximity Read ↗

Screening, genetics, risk factors, and treatment of neonatal cataracts.Semantic proximity Read ↗

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.Semantic proximity Read ↗

Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.Semantic proximity Read ↗

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.Semantic proximity Read ↗

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