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

The Exponential Constriction Model of the Ellipsoid Zone in Taiwanese Individuals With RPGR-Related X-Linked Retinitis Pigmentosa.

Investigative ophthalmology & visual science - 1 Apr 2025

Huang Yi-Han, Huang Yu-Shu, Lin Chien-Yu, Lai Ying-Ju, Yang Chang-Hao, Ho Tzzy-Chang, Hsieh Yi-Ting, Yeh Po-Ting, Lai Tso-Ting, Lin Chao-Wen, Yang Chung-May, Chen Pei-Lung, Chen Ta-Ching

Abstract excerpt

Purpose: This study documents the natural disease progression and genotype-phenotype correlation in RPGR-related retinitis pigmentosa (RP) in the Taiwanese population. Methods: A retrospective analysis was conducted on individuals with molecularly confirmed RPGR-related disease-causing variant(s). Demographics, best-corrected visual acuity (BCVA), spherical equivalent (SE), fundus autofluorescence, and optical...

Read the complete abstract on PubMed

Topics

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

Share to Eye Proteins
Share to Fluorescein Angiography

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Genetic Diseases, X-Linked

Share to Retinitis Pigmentosa

Share to Taiwan

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 40257782
DOI: 10.1167/iovs.66.4.59
PMCID: PMC12020949

Genes

RPGR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Exponential Constriction Model of the Ellipsoid Zone in Taiwanese Individuals With RPGR-Related X-Linked Retinitis Pigmentosa.PMID 40257782Read ↗

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Semantic proximity Read ↗

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

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.Semantic proximity Read ↗

Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR.Semantic proximity Read ↗

Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.Semantic proximity Read ↗

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.Semantic proximity Read ↗

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.Semantic proximity Read ↗

Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.Semantic proximity Read ↗

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.Semantic proximity Read ↗

Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa.Semantic proximity Read ↗

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.Semantic proximity Read ↗

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