Evidence map›Paper›PMID 42090280›Full record

ArticleInvestigative ophthalmology & visual science2026

Independent Degeneration of Photoreceptors and Retinal Pigment Epithelium: Multimodal Imaging Evidence From Choroideremia Carriers.

Xiaoxu Han, Yang Yu, Xing Wei, Zixi Sun, Hui Li, Xuan Zou, Ruifang Sui

Abstract read
In one paragraph

Article in Investigative ophthalmology & visual science, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

7 authors.

Xiaoxu HanDepartment of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Yang YuDepartment of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Xing WeiDepartment of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Zixi SunDepartment of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Hui LiDepartment of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Xuan ZouDepartment of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Ruifang SuiDepartment of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To characterize retinal structural alterations and elucidate underlying pathogenesis in female carriers of choroideremia (CHM) using multimodal imaging. Methods: This single-center retrospective study analyzed 100 eyes of 50 genetically confirmed female CHM carriers. Clinical evaluation comprised genotype, age, visual acuity, color fundus photography, fundus autofluorescence (FAF), infrared reflectance, and optical coherence tomography (OCT). Retinal lesions were identified and classified using point-to-point co-localization analysis across modalities. Results: The mean age of carriers was 39.6 ± 17.8 years (range 3.2-80.3 years). All eyes exhibited varying degrees of retinal abnormalities. Most common findings included yellowish changes on color photographs, mottled areas of hyper- and hypo-autofluorescence on FAF, and isolated interdigitation zone (IZ) loss on OCT. Chorioretinal atrophy beyond the peripapillary region, indicating a severe phenotype, was observed in 18% of eyes. Five characteristic degenerative lesions were identified: Type A, isolated IZ loss; Type B, hyper-autofluorescent spots corresponding to presumed photoreceptor loss; Type C, drusen-like deposits; Type D, degeneration of the retinal pigment epithelium (RPE) and RPE-photoreceptor interface; and Type E, outer retinal degeneration. Type B lesions suggest that photoreceptor loss may precede RPE loss at specific loci. Type A lesions were the earliest abnormality, significantly associated with milder phenotypes, indicating the RPE-photoreceptor interface is the initial site of pathology. In contrast, Type D and E lesions were associated with severe phenotypes. Conclusions: Identified hyper-autofluorescence lesions corresponding to presumed photoreceptor loss indicate independent degeneration of photoreceptors and RPE. These findings suggest that future therapeutic approaches should concurrently target both cellular components.

Indexed as

ChoroideremiaMultimodal ImagingPhotoreceptor Cells, VertebrateRetinal DegenerationRetinal Pigment EpitheliumAdaptor Proteins, Signal TransducingAdolescentAdultAgedAged, 80 and overChildChild, PreschoolFemaleFluorescein AngiographyHeterozygoteHumansAdaptor Proteins, Signal TransducingCHM protein, human

Identifiers

PMID42090280
PMCPMC13170725

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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.