Evidence map›Paper›PMID 40736857›Full record

ReviewAdvances in experimental medicine and biology2025

A Practical Approach to Retinal Dystrophies.

Ahmet Hondur, Irena Tsui, Brian J Song, Chyuan-Sheng Lin, Stephen Tsang, Tarun Sharma, Vlad Diaconita

Abstract readReview
PubMed Publisher
In one paragraph

Review in Advances in experimental medicine and biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Ahmet HondurDepartment of Ophthalmology, Columbia University, New York, NY, USA.
Irena TsuiDepartment of Ophthalmology, University of California-Los Angeles, Los Angeles, CA, USA.
Brian J SongMassachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Chyuan-Sheng LinDepartment of Pathology and Cell Biology, Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, USA.
Stephen TsangDepartment of Ophthalmology, Columbia University, New York, NY, USA. sht2@cumc.columbia.edu.
Tarun SharmaDepartment of Ophthalmology, Columbia University, New York, NY, USA.
Vlad DiaconitaDepartment of Ophthalmology, Columbia University, New York, NY, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genomic approaches to developing new diagnostic and therapeutic strategies in retinal dystrophies are among the most advanced applications of genetics (Tsang and Gouras 1996). The notion that "nothing can be done" for patients with retinal dystrophies is no longer true. Electrophysiological testing and autofluorescence imaging help to diagnose and predict the patient's course of disease. Better phenotyping can contribute to better-directed, cost-efficient genotyping. Combining fundoscopy, autofluorescent imaging, and electrophysiological testing is essential in approaching patients with retinal dystrophies. The first FDA-approved gene therapy, Voretigene Neparvovec (VN, Luxturna• , Spark Therapeutics, Philadelphia, PA), is now available for eyes with AR RP and LCA with biallelic RPE65 mutation. Emerging are more new gene-based treatments for these devastating retinal dystrophies.

Indexed as

Genetic TherapyRetinal Dystrophiescis-trans-IsomerasesHumansMutationRetinoid Isomerohydrolasecis-trans-IsomerasesRetinoid Isomerohydrolase

Identifiers

PMID40736857

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.