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

Year Number of Results
1993 1
1994 1
1997 1
1998 1
1999 4
2000 3
2001 4
2002 1
2003 3
2004 5
2005 1
2006 1
2007 3
2008 4
2009 10
2010 7
2011 9
2012 11
2013 13
2014 17
2015 18
2016 28
2017 29
2018 48
2019 30
2020 35
2021 34
2022 22
2023 22
2024 7

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320 results

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Page 1
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M. Rahman N, et al. Br J Ophthalmol. 2020 Apr;104(4):451-460. doi: 10.1136/bjophthalmol-2019-315086. Epub 2019 Nov 8. Br J Ophthalmol. 2020. PMID: 31704701 Free PMC article. Review.
The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystrophy, Sorsby fundus dystrophy and autosomal dominant drusen. ...
The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pa …
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens CM, Vulto-van Silfhout AT, Cremers FPM. Cornelis SS, et al. Am J Hum Genet. 2022 Mar 3;109(3):498-507. doi: 10.1016/j.ajhg.2022.01.008. Epub 2022 Feb 3. Am J Hum Genet. 2022. PMID: 35120629 Free PMC article.
Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their population frequencies and penetrances are unknown. An example of this is Stargardt disease (STGD1), a frequent recessive retinal disease cause …
Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their population freque …
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Schulz HL, Grassmann F, Kellner U, Spital G, Rüther K, Jägle H, Hufendiek K, Rating P, Huchzermeyer C, Baier MJ, Weber BH, Stöhr H. Schulz HL, et al. Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936. Invest Ophthalmol Vis Sci. 2017. PMID: 28118664 Free PMC article.
PURPOSE: Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. ...
PURPOSE: Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-bindi …
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero M, Riveiro-Alvarez R, Martin-Merida I, Blanco-Kelly F, Swafiri S, Lorda-Sanchez I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Corton M, Avila-Fernandez A, Ayuso C. Del Pozo-Valero M, et al. Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. Invest Ophthalmol Vis Sci. 2022. PMID: 35119454 Free PMC article.
METHODS: A cohort of 1036 families was classified according to their suspected clinical diagnosis-Stargardt disease (STGD), cone and cone-rod dystrophy (CCRD) or other maculopathies (otherMD). ...
METHODS: A cohort of 1036 families was classified according to their suspected clinical diagnosis-Stargardt disease (STGD), co …
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group; ProgStar Study Group. Fujinami K, et al. Br J Ophthalmol. 2019 Mar;103(3):390-397. doi: 10.1136/bjophthalmol-2018-312064. Epub 2018 Jun 20. Br J Ophthalmol. 2019. PMID: 29925512 Free PMC article.
BACKGROUND/AIMS: To describe the genetic characteristics of the cohort enrolled in the international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and to determine geographic differences based on the allele frequency. ...
BACKGROUND/AIMS: To describe the genetic characteristics of the cohort enrolled in the international multicentre progression of Stargardt …
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y. Jiang F, et al. Invest Ophthalmol Vis Sci. 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. Invest Ophthalmol Vis Sci. 2016. PMID: 26780318
PURPOSE: Mutations in the ABCA4 gene are heterogeneous and somewhat ethnic specific and can result in autosomal recessive Stargardt disease (STGD1), cone or cone-rod dystrophy (CRD), and retinitis pigmentosa. ...
PURPOSE: Mutations in the ABCA4 gene are heterogeneous and somewhat ethnic specific and can result in autosomal recessive Stargardt …
Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.
Sajovic J, Meglič A, Volk M, Maver A, Jarc-Vidmar M, Hawlina M, Fakin A. Sajovic J, et al. Genes (Basel). 2023 Jan 22;14(2):291. doi: 10.3390/genes14020291. Genes (Basel). 2023. PMID: 36833218 Free PMC article.
Variants in WDR19 (IFT144) have been implicated as another possible cause of Stargardt disease. The purpose of this study was to compare longitudinal multimodal imaging of a WDR19-Stargardt patient, harboring p....Addition of WDR19 in the group of genes producing ph …
Variants in WDR19 (IFT144) have been implicated as another possible cause of Stargardt disease. The purpose of this study was …
Novel oral medications for retinal disease: an update on clinical development.
DeBoer CMT, Agrawal R, Rahimy E. DeBoer CMT, et al. Curr Opin Ophthalmol. 2023 May 1;34(3):203-210. doi: 10.1097/ICU.0000000000000948. Epub 2023 Mar 20. Curr Opin Ophthalmol. 2023. PMID: 36943473 Free PMC article. Review.
RECENT FINDINGS: Several new oral medications show clinical and preclinical promise for the management of retinal disease, including macular degeneration, diabetic retinopathy and Stargardt disease. SUMMARY: Oral medications provide promise for treating retinal dise …
RECENT FINDINGS: Several new oral medications show clinical and preclinical promise for the management of retinal disease, including macular …
Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies.
Schwartz SD, Regillo CD, Lam BL, Eliott D, Rosenfeld PJ, Gregori NZ, Hubschman JP, Davis JL, Heilwell G, Spirn M, Maguire J, Gay R, Bateman J, Ostrick RM, Morris D, Vincent M, Anglade E, Del Priore LV, Lanza R. Schwartz SD, et al. Lancet. 2015 Feb 7;385(9967):509-16. doi: 10.1016/S0140-6736(14)61376-3. Epub 2014 Oct 15. Lancet. 2015. PMID: 25458728 Clinical Trial.
320 results