Clinical and molecular characterization of females affected by X-linked retinoschisis.

doi:10.1111/ceo.12541

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

Community

Back to search

Article

Clinical and molecular characterization of females affected by X-linked retinoschisis.

Clinical & experimental ophthalmology - 1 Jan 2000

Staffieri Sandra E, Rose Loreto, Chang Andrew, De Roach John N, McLaren Terri L, Mackey David A, Hewitt Alex W, Lamey Tina M

Abstract excerpt

BACKGROUND: X-linked retinoschisis (XLRS) is a leading cause of juvenile macular degeneration associated with mutations in the RS1 gene. XLRS has a variable expressivity in males and shows no clinical phenotype in carrier females. DESIGN: Clinical and molecular characterization of male and female individuals affected with XLRS in a consanguineous family. PARTICIPANTS: Consanguineous Eastern European-Australian...

Read the complete abstract on PubMed

Topics

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

Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to DNA Mutational Analysis

Share to Eye Proteins

Share to Pedigree

Share to Phenotype

Share to Retinoschisis

Share to Young Adult

Source

Open in PubMed

Identifiers

PMID: 25894957
DOI: 10.1111/ceo.12541

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and molecular characterization of females affected by X-linked retinoschisis.PMID 25894957Read ↗

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.Semantic proximity Read ↗

Comprehensive analysis of RS1 gene mutations and clinical manifestations in nine unrelated X-linked retinoschisis (XLRS) Chinese families.Semantic proximity Read ↗

Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing.Semantic proximity Read ↗

Molecular genetic characteristics of X-linked retinoschisis in Koreans.Semantic proximity Read ↗

Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.Semantic proximity Read ↗

Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease.Semantic proximity Read ↗

Comprehensive analysis of RS1 gene mutations and clinical manifestations in nine unrelated X-linked retinoschisis (XLRS) Chinese familiesSemantic proximity Read ↗

X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.Semantic proximity Read ↗

The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China.Semantic proximity Read ↗

Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.Semantic proximity Read ↗

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.Semantic proximity Read ↗

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