ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2026
Genetic characterization of inherited retinal dystrophy in a Northwestern Chinese cohort: A single-center study over a 5-year period in Shaanxi, China.
Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
Abstract
objectiveInherited retinal diseases (IRDs) are a clinically and molecularly heterogeneous group of monogenic disorders that cause vision loss across all age groups. This study set out to define the mutational landscape of IRDs among patients evaluated at a tertiary center in Northwest China.
methodsNext-generation sequencing (NGS) was performed in 116 patients with IRDs enrolled at our ophthalmic center over a five-year recruitment period. Of these, 92 underwent whole-exome sequencing (WES) and the remaining 24 were analyzed with a targeted hereditary eye disease enrichment panel (HEDEP). Co-segregation analysis involving family members was completed for 111 probands.
resultsIn total, 129 sequence alterations were detected, of which 60 were novel. The potential molecular diagnostic rate was 69%. High detection rates were observed in clinically well-defined conditions: Stargardt disease, congenital stationary night blindness, fundus albipunctatus, and Bardet-Biedl syndrome each reached 100% diagnostic confirmation. Diagnostic success was greater among patients with available family co-segregation data (70.2%), children and adolescents (76.7%), and those enrolled within the most recent two years (76.2%). Among the 80 molecularly solved/possibly solved cases, autosomal dominant transmission accounted for 17.5%, autosomal recessive inheritance predominated at 65%, and X-linked inheritance accounted for 17.5%. ABCA4 was the most frequently mutated gene in this cohort, followed by BEST1 and CRB1. Notably, no EYS variants were identified, whereas variants in the RDH gene were seen at a relatively higher frequency.
conclusionThe present work provides a comprehensive molecular characterization of IRD patients from Northwest China evaluated at a tertiary center in Shaanxi and describes the genetic characteristics of this regional cohort. These observations may help refine diagnostic algorithms for retinal disorders and inform the development of broadly applicable precision treatments.
Indexed as
Identifiers
42853280What OpenQuestion holds
Registered trials
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.