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ABCA4-Related Disorders

MedGen UID:
893468
•Concept ID:
CN239167
•
Disease or Syndrome

Professional guidelines

PubMed

Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.
Xiao X, Ye L, Chen C, Zheng H, Yuan J
Curr Gene Ther 2022;22(4):342-351. doi: 10.2174/1566523222666220216101539. PMID: 35170407Free PMC Article
Quantitative Fundus Autofluorescence in ABCA4-Related Retinopathy -Functional Relevance and Genotype-Phenotype Correlation.
Müller PL, Gliem M, McGuinnes M, Birtel J, Holz FG, Charbel Issa P
Am J Ophthalmol 2021 Feb;222:340-350. Epub 2020 Sep 4 doi: 10.1016/j.ajo.2020.08.042. PMID: 32891696
Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10.
Kong X, Fujinami K, Strauss RW, Munoz B, West SK, Cideciyan AV, Michaelides M, Ahmed M, Ervin AM, Schönbach E, Cheetham JK, Scholl HPN; ProgStar Study Group
JAMA Ophthalmol 2018 Aug 1;136(8):920-928. doi: 10.1001/jamaophthalmol.2018.2198. PMID: 29902293Free PMC Article

Recent clinical studies

Etiology

Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.
Xiao X, Ye L, Chen C, Zheng H, Yuan J
Curr Gene Ther 2022;22(4):342-351. doi: 10.2174/1566523222666220216101539. PMID: 35170407Free PMC Article
Quantitative Fundus Autofluorescence in ABCA4-Related Retinopathy -Functional Relevance and Genotype-Phenotype Correlation.
Müller PL, Gliem M, McGuinnes M, Birtel J, Holz FG, Charbel Issa P
Am J Ophthalmol 2021 Feb;222:340-350. Epub 2020 Sep 4 doi: 10.1016/j.ajo.2020.08.042. PMID: 32891696
PROGRESSION OF ABCA4-RELATED RETINOPATHY: Prognostic value of demographic, functional, genetic, and imaging parameters.
Müller PL, Pfau M, Treis T, Pascual-Camps I, Birtel J, Lindner M, Herrmann P, Holz FG
Retina 2020 Dec;40(12):2343-2356. doi: 10.1097/IAE.0000000000002747. PMID: 33214501
SPECTRAL FUNDUS AUTOFLUORESCENCE EXCITATION AND EMISSION IN ABCA4-RELATED RETINOPATHY.
Müller PL, Dysli C, Hess K, Holz FG, Herrmann P
Retina 2020 Dec;40(12):2332-2342. doi: 10.1097/IAE.0000000000002726. PMID: 31876892
Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy.
Piccardi M, Fadda A, Martelli F, Marangoni D, Magli A, Minnella AM, Bertelli M, Di Marco S, Bisti S, Falsini B
Nutrients 2019 Oct 15;11(10) doi: 10.3390/nu11102461. PMID: 31618812Free PMC Article

Diagnosis

Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.
Xiao X, Ye L, Chen C, Zheng H, Yuan J
Curr Gene Ther 2022;22(4):342-351. doi: 10.2174/1566523222666220216101539. PMID: 35170407Free PMC Article
Quantitative Fundus Autofluorescence in ABCA4-Related Retinopathy -Functional Relevance and Genotype-Phenotype Correlation.
Müller PL, Gliem M, McGuinnes M, Birtel J, Holz FG, Charbel Issa P
Am J Ophthalmol 2021 Feb;222:340-350. Epub 2020 Sep 4 doi: 10.1016/j.ajo.2020.08.042. PMID: 32891696
Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy.
Piccardi M, Fadda A, Martelli F, Marangoni D, Magli A, Minnella AM, Bertelli M, Di Marco S, Bisti S, Falsini B
Nutrients 2019 Oct 15;11(10) doi: 10.3390/nu11102461. PMID: 31618812Free PMC Article
Spectrally Resolved Fundus Autofluorescence in ABCA4-Related Retinopathy.
Dysli C, Müller PL, Birtel J, Holz FG, Herrmann P
Invest Ophthalmol Vis Sci 2019 Jan 2;60(1):274-281. doi: 10.1167/iovs.18-25755. PMID: 30657522
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
Duno M, Schwartz M, Larsen PL, Rosenberg T
Ophthalmic Genet 2012 Dec;33(4):225-31. Epub 2012 Jan 9 doi: 10.3109/13816810.2011.643441. PMID: 22229821

Therapy

Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy.
Piccardi M, Fadda A, Martelli F, Marangoni D, Magli A, Minnella AM, Bertelli M, Di Marco S, Bisti S, Falsini B
Nutrients 2019 Oct 15;11(10) doi: 10.3390/nu11102461. PMID: 31618812Free PMC Article

Prognosis

Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.
Xiao X, Ye L, Chen C, Zheng H, Yuan J
Curr Gene Ther 2022;22(4):342-351. doi: 10.2174/1566523222666220216101539. PMID: 35170407Free PMC Article
Quantitative Fundus Autofluorescence in ABCA4-Related Retinopathy -Functional Relevance and Genotype-Phenotype Correlation.
Müller PL, Gliem M, McGuinnes M, Birtel J, Holz FG, Charbel Issa P
Am J Ophthalmol 2021 Feb;222:340-350. Epub 2020 Sep 4 doi: 10.1016/j.ajo.2020.08.042. PMID: 32891696
PROGRESSION OF ABCA4-RELATED RETINOPATHY: Prognostic value of demographic, functional, genetic, and imaging parameters.
Müller PL, Pfau M, Treis T, Pascual-Camps I, Birtel J, Lindner M, Herrmann P, Holz FG
Retina 2020 Dec;40(12):2343-2356. doi: 10.1097/IAE.0000000000002747. PMID: 33214501
Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.
Birtel J, Gliem M, Hess K, Birtel TH, Holz FG, Zechner U, Bolz HJ, Herrmann P
Genes (Basel) 2020 Jan 28;11(2) doi: 10.3390/genes11020137. PMID: 32013026Free PMC Article
SPECTRAL FUNDUS AUTOFLUORESCENCE EXCITATION AND EMISSION IN ABCA4-RELATED RETINOPATHY.
Müller PL, Dysli C, Hess K, Holz FG, Herrmann P
Retina 2020 Dec;40(12):2332-2342. doi: 10.1097/IAE.0000000000002726. PMID: 31876892

Clinical prediction guides

MACULAR ATROPHY AND PHENOTYPIC VARIABILITY IN AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY DUE TO PROM1 MUTATION.
Ricca AM, Han IC, Hoffmann J, Stone EM, Sohn EH
Retina 2023 Jul 1;43(7):1165-1173. doi: 10.1097/IAE.0000000000003784. PMID: 36930890Free PMC Article
Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.
Xiao X, Ye L, Chen C, Zheng H, Yuan J
Curr Gene Ther 2022;22(4):342-351. doi: 10.2174/1566523222666220216101539. PMID: 35170407Free PMC Article
Quantitative Fundus Autofluorescence in ABCA4-Related Retinopathy -Functional Relevance and Genotype-Phenotype Correlation.
Müller PL, Gliem M, McGuinnes M, Birtel J, Holz FG, Charbel Issa P
Am J Ophthalmol 2021 Feb;222:340-350. Epub 2020 Sep 4 doi: 10.1016/j.ajo.2020.08.042. PMID: 32891696
PROGRESSION OF ABCA4-RELATED RETINOPATHY: Prognostic value of demographic, functional, genetic, and imaging parameters.
Müller PL, Pfau M, Treis T, Pascual-Camps I, Birtel J, Lindner M, Herrmann P, Holz FG
Retina 2020 Dec;40(12):2343-2356. doi: 10.1097/IAE.0000000000002747. PMID: 33214501
SPECTRAL FUNDUS AUTOFLUORESCENCE EXCITATION AND EMISSION IN ABCA4-RELATED RETINOPATHY.
Müller PL, Dysli C, Hess K, Holz FG, Herrmann P
Retina 2020 Dec;40(12):2332-2342. doi: 10.1097/IAE.0000000000002726. PMID: 31876892

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