Evidence map›Paper›PMID 42240816›Full record

ReviewOphthalmology and therapy2026

Update on the Management of ABCA4 Retinopathy (Stargardt Disease).

Deepika C Parameswarappa, Dhanashree Ratra, Goura Chattannavar, Srikanta Kumar Padhy

Abstract readReview
In one paragraph

Review in Ophthalmology and therapy, 2026. 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

4 authors.

Deepika C ParameswarappaDepartment of Vitreoretina, Inherited Retinal Diseases, Ocular Genetics and Electrophysiology, Narayana Nethralaya, Bengaluru, 560010, India.
Dhanashree RatraDepartment of Vitreoretinal Diseases, Sankara Nethralaya, Chennai, India.
Goura ChattannavarChild Sight Institute, Jasti V Ramanamma Children's Eye Care Centre, LV Prasad Eye Institute, Hyderabad, India.
Srikanta Kumar PadhyAnant Bajaj Retina Institute, LV Prasad Eye Institute, Bhubaneswar, 751024, India. srikantkumar.padhy19@gmail.com.ORCID http://orcid.org/0000-0002-6453-5851

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

ABCA4-associated retinopathies (Stargardt disease) are the most common inherited macular dystrophy and a leading cause of early onset central vision loss. Biallelic pathogenic variants in the ABCA4 gene cause impaired clearance of retinoid byproducts, leading to toxic bisretinoid accumulation, retinal pigment epithelium dysfunction, and progressive photoreceptor degeneration. Clinical presentation and disease progression are highly heterogeneous, largely influenced by genotype, age at onset, and environmental modifiers. Current management remains supportive and includes low-vision rehabilitation and counseling. Recent advances in molecular genetics, retinal imaging, and translational science have substantially expanded the therapeutic pipeline for ABCA4 retinopathy. Disease-modifying strategies under active investigation include visual-cycle modulation, deuterated vitamin A analogs, retinol-binding protein antagonists, gene augmentation and editing approaches, antisense oligonucleotides, and cell-based regenerative therapies. Several pharmacologic agents have demonstrated promising structural outcomes in clinical trials, while gene-based and regenerative approaches continue to evolve amid challenges related to gene size, delivery efficiency, and long-term safety. Optogenetic therapy has emerged as a gene-agnostic option for functional vision restoration in advanced disease stages. This review provides an integrated overview of ABCA4 retinopathy, summarizing disease mechanisms, current management strategies, emerging therapies, and the evolving clinical trial landscape. Emphasis is placed on stage-adapted treatment paradigms, appropriate monitoring endpoints, and the potential role of combination therapies. Ongoing innovation and precision-based approaches offer cautious optimism for durable disease modification and functional preservation in this currently untreatable condition.

Indexed as

ABCA4 retinopathy (Stargardt disease)Gene therapy (dual AAV, ASOs, genome editing)lipofuscin/A2EOptogeneticsRPE cell therapyVisual cycle modulation

Identifiers

PMID42240816
PMCPMC13315051

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Registered trials

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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.