ReviewInternational ophthalmology2025
Advancements and future directions in Oguchi disease research.
Review in International ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Identification of novel mutations in theInternational journal of ophthalmology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
backgroundOguchi disease, an autosomal recessive congenital condition characterized by night blindness and distinct retinal abnormalities, was first documented by Chuta Oguchi in 1907. Predominantly observed in the Japanese population, it presents diagnostic challenges due to overlapping symptoms with other retinal diseases.
objectiveThis review synthesizes recent advancements in Oguchi disease research, focusing on genetic mechanisms, diagnostic approaches, and emerging therapeutic strategies.
methodsA systematic analysis of literature was conducted, encompassing genetic studies, clinical case reports, and therapeutic trials related to Oguchi disease. Key databases such as PubMed and ClinVar were utilized to compile pathogenic variants and phenotypic correlations.
resultsOguchi disease is primarily linked to mutations in the SAG and GRK1 genes, which disrupt phototransduction recovery in rod photoreceptors. Diagnostic hallmarks include the Mizuo-Nakamura phenomenon and characteristic electroretinogram (ERG) abnormalities. Recent advances in gene therapy, particularly CRISPR-Cas9 and AAV vectors, show promise in preclinical models.
conclusionWhile no cure exists, genetic research has paved the way for targeted therapies. Future directions include refining gene-editing techniques and addressing challenges in clinical translation.
Indexed as
Identifiers
40668311What 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.