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ABCA4-related retinopathy

MedGen UID:
1003298
•Concept ID:
CN322612
•
Disease or Syndrome
Synonyms: ABCA4 retinoapthy; ABCA4-related retinoapthy
 
Monarch Initiative: MONDO:0800406

Definition

An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene. [from MONDO]

Professional guidelines

PubMed

The central retinal thickness and its related genotype in ABCA4-related retinopathy.
Wang Y, Li T, Yu S, Gong Y, Zhang M, Wu Y, Liu W, Sun J, Chen J, Sun X; Shanghai Inherited Retinal Disease (SHIRD) Study Group
Eye (Lond) 2024 Oct;38(14):2718-2723. Epub 2024 May 13 doi: 10.1038/s41433-024-03104-2. PMID: 38740961Free 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

Recent clinical studies

Etiology

The central retinal thickness and its related genotype in ABCA4-related retinopathy.
Wang Y, Li T, Yu S, Gong Y, Zhang M, Wu Y, Liu W, Sun J, Chen J, Sun X; Shanghai Inherited Retinal Disease (SHIRD) Study Group
Eye (Lond) 2024 Oct;38(14):2718-2723. Epub 2024 May 13 doi: 10.1038/s41433-024-03104-2. PMID: 38740961Free 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
CHOROIDAL ALTERATIONS IN ABCA4-RELATED RETINOPATHY.
Müller PL, Fimmers R, Gliem M, Holz FG, Charbel Issa P
Retina 2017 Feb;37(2):359-367. doi: 10.1097/IAE.0000000000001169. PMID: 27414126

Diagnosis

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
A CASE OF INTRARETINAL PERIPAPILLARY NEOVASCULARIZATION IN ABCA4-RELATED RETINOPATHY.
Essilfie JO, Huynh A, Gorin MB, Sadda SR
Retin Cases Brief Rep 2021 Jan 1;15(1):5-9. doi: 10.1097/ICB.0000000000000723. PMID: 29470301
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
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

Progression, reliability, predicting parameters and sample size calculations for quantitative fundus autofluorescence measures in ABCA4-related retinopathy.
Müller PL, Treis T, Tufail A, Holz FG
Br J Ophthalmol 2024 May 21;108(5):760-769. doi: 10.1136/bjo-2022-322829. PMID: 37286357

Prognosis

Progression, reliability, predicting parameters and sample size calculations for quantitative fundus autofluorescence measures in ABCA4-related retinopathy.
Müller PL, Treis T, Tufail A, Holz FG
Br J Ophthalmol 2024 May 21;108(5):760-769. doi: 10.1136/bjo-2022-322829. PMID: 37286357
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

Progression, reliability, predicting parameters and sample size calculations for quantitative fundus autofluorescence measures in ABCA4-related retinopathy.
Müller PL, Treis T, Tufail A, Holz FG
Br J Ophthalmol 2024 May 21;108(5):760-769. doi: 10.1136/bjo-2022-322829. PMID: 37286357
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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