Evidence map›Paper›PMID 42346599›Full record

ReviewJournal of personalized medicine2026

Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions.

Sujin Kang, Byron L Lam, Winston Lee, Audina M Berrocal, Ninel Z Gregori, Carlos E Mendoza-Santiesteban, Jesse D Sengillo

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of personalized medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Observational
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.

Sujin KangDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, FL 33136, USA.ORCID 0009-0005-9466-1911
Byron L LamDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, FL 33136, USA.ORCID 0000-0002-1233-2366
Winston LeeDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, FL 33136, USA.
Audina M BerrocalDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, FL 33136, USA.ORCID 0000-0002-2446-2184
Ninel Z GregoriDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, FL 33136, USA.
Carlos E Mendoza-SantiestebanDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, FL 33136, USA.ORCID 0000-0002-6344-4544
Jesse D SengilloDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, FL 33136, USA.

Funding

Florida Department of Health VisionGenMark J. Daily Inherited Retinal Disease Research Center ResearchResearch to Prevent Blindness GR004596
6 · The paper itself

Abstract

Inherited retinal diseases (IRDs) are a major cause of visual impairment worldwide, marked by extensive genetic and phenotypic heterogeneity. Recent estimates from the U.S. suggest a prevalence of nearly 1 in 1000 individuals, reflecting both disease burden and improved diagnostic recognition. This review traces the shift from linkage analysis and Sanger sequencing to high-throughput next-generation sequencing, including panel-based, whole-exome, and whole-genome sequencing. Phenotype-driven testing strategies and standardized variant interpretation frameworks, such as the American College of Medical Genetics and Genomics guidelines, have substantially increased diagnostic yield. Copy number and structural variant detection, transcriptomics, and functional assays further help address unresolved cases. Nonetheless, barriers remain regarding cost, access, and the interpretation of variants of uncertain significance. Molecular confirmation has become essential for access to novel gene-directed therapies, exemplified by voretigene neparvovec for biallelic

Indexed as

artificial intelligencegenetic testinginherited retinal diseasenext-generation sequencingpanel-based sequencingprecision medicinewhole-exome sequencingwhole-genome sequencing

Identifiers

PMID42346599
PMCPMC13301482

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.