Evidence map›Paper›PMID 40257782›Full record

ArticleInvestigative ophthalmology & visual science2025

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

Yi-Han Huang, Yu-Shu Huang, Chien-Yu Lin, Ying-Ju Lai, Chang-Hao Yang, Tzzy-Chang Ho, Yi-Ting Hsieh, Po-Ting Yeh, Tso-Ting Lai, Chao-Wen Lin and 3 more

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Article in Investigative ophthalmology & visual science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Yi-Han HuangDepartment of Medical Education, National Taiwan University Hospital, Taipei, Taiwan.
Yu-Shu HuangGraduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
Chien-Yu LinDepartment of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Ying-Ju LaiDepartment of Biostatistics, University of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Chang-Hao YangDepartment of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Tzzy-Chang HoDepartment of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Yi-Ting HsiehDepartment of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Po-Ting YehDepartment of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Tso-Ting LaiDepartment of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Chao-Wen LinDepartment of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Chung-May YangDepartment of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Pei-Lung ChenGraduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.
Ta-Ching ChenDepartment of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 coherence tomography were assessed. Results: Fifty-two individuals from 31 families were diagnosed with RPGR-related disease-causing variant(s). Mean follow-up time was 4.2 years. Among 21 genetic variants, 67% involved the open reading frame 15 region (ORF15) variant, and 33% were Exon 1-14 variants. Male patients (69%) had a mean BCVA of 0.9 logMAR and SE of -3.8 D in the right eye and -3.0 D in the left eye, with high myopia in 19% to 20%. BCVA progression was 0.031 logMAR/year in the ORF15 group (P < 0.001) and 0.011 logMAR/year (P = 0.457) in the Exon 1-14 group. An exponential decay model revealed rapid ellipsoid zone (EZ) constriction during childhood in the ORF15 group. Female patients/carriers (31%) had a mean BCVA of 0.3 logMAR and SE of -4.3D, with high myopia of 31% in the right eye and 46% in the left eye. Among symptomatic females, 73% exhibited clinically significant disease. The most common mutation was the c.2592dup variant (15%). Conclusions: This first longitudinal analysis of RPGR-related RP in Taiwan presents a predictive model of EZ constriction. Findings suggest earlier onset in Exon 1-14 variants and a tendency for faster progression in the ORF15 group, informing insights for genetic therapy development and disease management.

Indexed as

Eye ProteinsGenetic Diseases, X-LinkedRetinitis PigmentosaAdolescentAdultChildDisease ProgressionFemaleFluorescein AngiographyFollow-Up StudiesGenetic Association StudiesHumansMaleMiddle AgedMutationPedigreeEye ProteinsRPGR protein, human

Identifiers

PMID40257782
PMCPMC12020949

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.