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

Retinal Disease Variability in Female Carriers of RPGR Variants Associated with Retinitis Pigmentosa: Clinical and Genetic Parameters

13 Feb 2025

Abstract excerpt

Objectives: We sought to investigate the visual function, retinal features, and genotype–phenotype correlations of an Australian cohort of RPGR carriers. Methods: In this cross-sectional study, we evaluated RPGR carriers seen in Melbourne and Perth between 2013 and 2023 and healthy women seen between 2022 and 2023 in Melbourne. Visual acuity tests, fundus-tracked microperimetry, and retinal imaging were...

Read the complete abstract on PubMed

Topics

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

Share to melanin and skin pigmentation
Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40004550
DOI: 10.3390/genes16020221

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

Retinal Disease Variability in Female Carriers of RPGR Variants Associated with Retinitis Pigmentosa: Clinical and Genetic ParametersPMID 40004550Read ↗

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.Semantic proximity Read ↗

Retinal Characteristics of Female Choroideremia Carriers: Multimodal Imaging, Microperimetry, and Genetics.Semantic proximity Read ↗

Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males.Semantic proximity Read ↗

Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.Semantic proximity Read ↗

Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic VariabilitySemantic proximity Read ↗

Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients.Semantic proximity Read ↗

Genetics of the retina.Semantic proximity Read ↗

Non-syndromic retinitis pigmentosa.Semantic proximity Read ↗

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.Semantic proximity Read ↗

Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature ReviewSemantic proximity Read ↗

Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.Semantic proximity Read ↗

Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing Their Potential for Retinal Gene TherapySemantic proximity Read ↗

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