Evidence map›Paper›PMID 41830174›Full record

ArticleHGG advances2026

Bi-allelic variants in AP5Z1 and AP5B1 lead to retinal degeneration.

Hafiz Muhammad Jafar Hussain, Meng Wang, Paul Yang, Behnoosh Tasharrofi, Yumei Li, Rebecca Lynn Clark, Emma Fale-Olsen, Grace Waldow, Mohammad Keramatipour, Mostafa Asadollahi and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in HGG advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Hafiz Muhammad Jafar HussainDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Meng WangDepartment of Ophthalmology and Visual Sciences, Robert M. Brunson Center for Translational Vision Research, University of California, Irvine, Irvine, CA 92697, USA.
Paul YangDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA.
Behnoosh TasharrofiWatson Genetic Laboratory, North Kargar Street, Tehran, Iran.
Yumei LiDepartment of Ophthalmology and Visual Sciences, Robert M. Brunson Center for Translational Vision Research, University of California, Irvine, Irvine, CA 92697, USA.
Rebecca Lynn ClarkDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA.
Emma Fale-OlsenDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA.
Grace WaldowDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA.
Mohammad KeramatipourWatson Genetic Laboratory, North Kargar Street, Tehran, Iran.
Mostafa AsadollahiWatson Genetic Laboratory, North Kargar Street, Tehran, Iran.
Mark E PennesiDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA; Retina Foundation of the Southwest, Dallas, TX 75231, USA.
Rui ChenDepartment of Ophthalmology and Visual Sciences, Robert M. Brunson Center for Translational Vision Research, University of California, Irvine, Irvine, CA 92697, USA. Electronic address: ruic20@hs.uci.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited retinal diseases (IRDs) comprise a diverse group of disorders that frequently lead to progressive vision impairment and blindness. Despite advances in genetic testing, a significant number of IRD cases remain genetically unsolved, often due to unidentified disease-associated genes or variants. This study reports additional cases for the newly discovered IRD genes of the AP-5 complex. A comprehensive ophthalmological evaluation was performed for all patients, including retinal imaging (multimodal imaging), visual field testing, and electroretinogram (ERG) testing. Whole-genome and -exome sequencing (WGS and WES) were performed for clinically unsolved IRD patients, and data were analyzed to identify underlying causal variants. The identified variants were subsequently validated using Sanger sequencing. Five unrelated patients from Europe and Iran were identified with a distinctive macular degeneration associated with bi-allelic variants in AP5Z1 (HGNC: 22197) and AP5B1 (HGNC: 25104), subunits of the vesicular fifth adaptor protein (AP-5) complex. The AP-5 complex is the part of the intracellular trafficking machinery thought to be involved in cellular homeostasis and lysosomal functioning in the retinal pigment epithelium (RPE). The identification of bi-allelic variants in two proteins of the AP-5 complex expand the characterization of AP-5 genes in sustaining and preserving normal macular function.

Indexed as

AllelesGenetic Predisposition to DiseaseGenetic VariationRetinal DegenerationExome SequencingFemaleHumansMaleMutationPedigreeAP5B1AP-5 complexAP5Z1inherited retinal diseasesunresolvedwhole-genome sequencing

Identifiers

PMID41830174
PMCPMC13050037

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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.