Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2023 20
2024 49
2025 50
2026 13

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

121 results

Results by year

Filters applied: . Clear all
Page 1
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S, Vermeirsch S, Pontikos N, Martin-Gutierrez MP, Daich Varela M, Malka S, Schiff E, Knight H, Wright G, Jurkute N, Simcoe MJ, Yu-Wai-Man P, Moosajee M, Michaelides M, Mahroo OA, Webster AR, Arno G. Lin S, et al. Ophthalmol Retina. 2024 Jul;8(7):699-709. doi: 10.1016/j.oret.2024.01.012. Epub 2024 Jan 12. Ophthalmol Retina. 2024. PMID: 38219857 Free PMC article.
MAIN OUTCOME MEASURES: Detailed analysis was performed for variants in the 5 most frequent genes (ABCA4, USH2A, RPGR, PRPH2, and BEST1), as well as for the most common variants encountered in the IRD study cohort. ...Complex disease alleles contributed to disease in 16.9% …
MAIN OUTCOME MEASURES: Detailed analysis was performed for variants in the 5 most frequent genes (ABCA4, USH2A, RPGR, PRPH2, and BEST …
Stargardt macular dystrophy and therapeutic approaches.
Fujinami K, Waheed N, Laich Y, Yang P, Fujinami-Yokokawa Y, Higgins JJ, Lu JT, Curtiss D, Clary C, Michaelides M. Fujinami K, et al. Br J Ophthalmol. 2024 Mar 20;108(4):495-505. doi: 10.1136/bjo-2022-323071. Br J Ophthalmol. 2024. PMID: 37940365 Free PMC article. Review.
STGD1 is an autosomal recessive disorder caused by multiple pathogenic sequence variants in the large ABCA4 gene (OMIM 601691). Major advances in understanding both the clinical and molecular features, as well as the underlying pathophysiology, have culminated in many comp …
STGD1 is an autosomal recessive disorder caused by multiple pathogenic sequence variants in the large ABCA4 gene (OMIM 601691). Major …
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M. Georgiou M, et al. Prog Retin Eye Res. 2024 May;100:101244. doi: 10.1016/j.preteyeres.2024.101244. Epub 2024 Jan 24. Prog Retin Eye Res. 2024. PMID: 38278208 Review.
Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), PRPH2-associated pattern dystrophy, Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)), (i …
Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis ( …
Stargardt's Disease: Molecular Pathogenesis and Current Therapeutic Landscape.
Dayma K, Rajanala K, Upadhyay A. Dayma K, et al. Int J Mol Sci. 2025 Jul 21;26(14):7006. doi: 10.3390/ijms26147006. Int J Mol Sci. 2025. PMID: 40725253 Free PMC article. Review.
Stargardt's disease (STGD1) is an autosomal recessive juvenile macular degeneration caused by mutations in the ABCA4 gene, impairing clearance of toxic retinoid byproducts in the retinal pigment epithelium (RPE). ...ABCA4 variants also show variable penetrance and g …
Stargardt's disease (STGD1) is an autosomal recessive juvenile macular degeneration caused by mutations in the ABCA4 gene, impairing …
An adenine base editor variant expands context compatibility.
Xiao YL, Wu Y, Tang W. Xiao YL, et al. Nat Biotechnol. 2024 Sep;42(9):1442-1453. doi: 10.1038/s41587-023-01994-3. Epub 2024 Jan 2. Nat Biotechnol. 2024. PMID: 38168987
We show ABE8r-mediated editing of clinically relevant sites that are poorly accessed by existing editors, including sites in PCSK9, whose disruption reduces low-density lipoprotein cholesterol, and ABCA4-p.Gly1961Glu, the most frequent mutation in Stargardt disease....
We show ABE8r-mediated editing of clinically relevant sites that are poorly accessed by existing editors, including sites in PCSK9, whose di …
mRNA trans-splicing dual AAV vectors for (epi)genome editing and gene therapy.
Riedmayr LM, Hinrichsmeyer KS, Thalhammer SB, Mittas DM, Karguth N, Otify DY, Böhm S, Weber VJ, Bartoschek MD, Splith V, Brümmer M, Ferreira R, Boon N, Wögenstein GM, Grimm C, Wijnholds J, Mehlfeld V, Michalakis S, Fenske S, Biel M, Becirovic E. Riedmayr LM, et al. Nat Commun. 2023 Oct 18;14(1):6578. doi: 10.1038/s41467-023-42386-0. Nat Commun. 2023. PMID: 37852949 Free PMC article.
Finally, REVeRT enabled the reconstitution of full-length ABCA4 after intravitreal injection in a mouse model of Stargardt disease. Due to its flexibility and efficiency REVeRT harbors great potential for basic research and clinical applications....
Finally, REVeRT enabled the reconstitution of full-length ABCA4 after intravitreal injection in a mouse model of Stargardt disease. D …
A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.
Fenner BJ, Whitmore SS, DeLuca AP, Andorf JL, Daggett HT, Luse MA, Haefeli LM, Riley JB, Critser DB, Wilkinson ME, Dumitrescu AV, Drack AV, Boyce TM, Russell JF, Binkley EM, Sohn EH, Russell SR, Boldt HC, Mullins RF, Tucker BA, Scheetz TE, Han IC, Stone EM. Fenner BJ, et al. Ophthalmology. 2024 Aug;131(8):985-997. doi: 10.1016/j.ophtha.2024.01.035. Epub 2024 Feb 1. Ophthalmology. 2024. PMID: 38309476 Free PMC article.
PURPOSE: To investigate the distribution of genotypes and natural history of ABCA4-associated retinal disease in a large cohort of patients seen at a single institution. ...Modifying factors frequently impact the ABCA4 disease phenotype to a degree that is similar i …
PURPOSE: To investigate the distribution of genotypes and natural history of ABCA4-associated retinal disease in a large cohort of pa …
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M, Kjellström S, Andréasson S, Öhberg A, Gränse L, Kjellström U. Areblom M, et al. Genes (Basel). 2023 Jul 8;14(7):1413. doi: 10.3390/genes14071413. Genes (Basel). 2023. PMID: 37510321 Free PMC article.
The cohort was genetically heterogenous, including 65 different genes. The most prevailing were ABCA4 (16.5%), RPGR (6%), CEP290 (6%), and RS1 (5.5%). Other prevalent genes were CACNA1F (3%), PROM1 (3%), CHM (3%), and NYX (3%). ...
The cohort was genetically heterogenous, including 65 different genes. The most prevailing were ABCA4 (16.5%), RPGR (6%), CEP290 (6%) …
A synthetic opsin restores vision in patients with severe retinal degeneration.
Mohanty SK, Mahapatra S, Batabyal S, Carlson M, Kanungo G, Ayyagari A, Tchedre K, Franco JA, Singer M, Barone SB, Chavala S, Mahajan VB. Mohanty SK, et al. Mol Ther. 2025 May 7;33(5):2279-2290. doi: 10.1016/j.ymthe.2025.03.031. Epub 2025 Mar 21. Mol Ther. 2025. PMID: 40121528 Free PMC article.
In an investigator-initiated, open-label study, four blind retinitis pigmentosa patients with ABCA4 variants received a single intravitreal gene-therapy injection. Noninvasive imaging confirmed retinal gene expression via a fluorescent reporter protein. ...
In an investigator-initiated, open-label study, four blind retinitis pigmentosa patients with ABCA4 variants received a single intrav …
High-efficiency base editing in the retina in primates and human tissues.
Muller A, Sullivan J, Schwarzer W, Wang M, Park-Windhol C, Hasler PW, Janeschitz-Kriegl L, Duman M, Klingler B, Matsell J, Hostettler SM, Galliker P, Hou Y, Balmer P, Virág T, Barrera LA, Young L, Xu Q, Magda DP, Kilin F, Khadka A, Moreau PH, Fellmann L, Azoulay T, Quinodoz M, Karademir D, Leppert J, Fratzl A, Kosche G, Sharma R, Montford J, Cattaneo M, Croyal M, Cronin T, Picelli S, Grison A, Cowan CS, Kusnyerik Á, Anders P, Renner M, Nagy ZZ, Szabó A, Bharti K, Rivolta C, Scholl HPN, Bryson D, Ciaramella G, Roska B, György B. Muller A, et al. Nat Med. 2025 Feb;31(2):490-501. doi: 10.1038/s41591-024-03422-8. Epub 2025 Jan 8. Nat Med. 2025. PMID: 39779923 Free PMC article.
Stargardt disease is a currently untreatable, inherited neurodegenerative disease that leads to macular degeneration and blindness due to loss-of-function mutations in the ABCA4 gene. We have designed a dual adeno-associated viral vector encoding a split-intein adenine bas …
Stargardt disease is a currently untreatable, inherited neurodegenerative disease that leads to macular degeneration and blindness due to lo …
121 results