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

Two novel variants in ALDH1A3 associated with anophthalmia and congenital cystic eye.

Ophthalmic genetics - 1 Apr 2025

Rodrigues Rita, Meira Jorge, Leal Vítor, Parente Freixo João, Brandão Ana Filipa, Lemos José Alberto, Estrela-Silva Sérgio, Magalhães Augusto

Abstract excerpt

PURPOSE: We present the case of a newborn with right anophthalmia, left congenital cystic eye, and two novel variants in the ALDH1A3 gene. This report provides a comprehensive discussion of the clinical presentation, management strategies, and long-term follow-up for this rare condition. METHODS: A thorough ophthalmic examination was performed. Genetic analysis employed next-generation sequencing targeting a...

Read the complete abstract on PubMed

Topics

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

Share to Aldehyde Oxidoreductases
Share to Anophthalmos

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Magnetic Resonance Imaging

Share to Mutation

Source

Identifiers

PMID: 39746838
DOI: 10.1080/13816810.2024.2444635

Genes

ALDH1A3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel variants in ALDH1A3 associated with anophthalmia and congenital cystic eye.PMID 39746838Read ↗

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.Semantic proximity Read ↗

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.Semantic proximity Read ↗

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.Semantic proximity Read ↗

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.Semantic proximity Read ↗

Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.Semantic proximity Read ↗

ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant.Semantic proximity Read ↗

Mutations in ALDH1A3 cause microphthalmia.Semantic proximity Read ↗

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.Semantic proximity Read ↗

Genetic analysis of consanguineous families presenting with congenital ocular defects.Semantic proximity Read ↗

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

Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic StrategiesSemantic proximity Read ↗

The genetics of anophthalmia and microphthalmia.Semantic proximity Read ↗

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