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Stargardt Disease, Dominant

MedGen UID:
893627
•Concept ID:
CN239307
•
Disease or Syndrome

Professional guidelines

PubMed

Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.
Buhler VMM, Berger L, Schaller A, Zinkernagel MS, Wolf S, Escher P
Genes (Basel) 2021 May 26;12(6) doi: 10.3390/genes12060812. PMID: 34073554Free PMC Article
Antisense oligonucleotide therapeutics in clinical trials for the treatment of inherited retinal diseases.
Xue K, MacLaren RE
Expert Opin Investig Drugs 2020 Oct;29(10):1163-1170. Epub 2020 Sep 1 doi: 10.1080/13543784.2020.1804853. PMID: 32741234

Recent clinical studies

Etiology

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
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. PMID: 35119454Free PMC Article
Predominance of hyperopia in autosomal dominant Best vitelliform macular dystrophy.
Coussa RG, Binkley EM, Wilkinson ME, Andorf JL, Tucker BA, Mullins RF, Sohn EH, Yannuzzi LA, Stone EM, Han IC
Br J Ophthalmol 2022 Apr;106(4):522-527. Epub 2020 Nov 26 doi: 10.1136/bjophthalmol-2020-317763. PMID: 33243830
Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.
Buhler VMM, Berger L, Schaller A, Zinkernagel MS, Wolf S, Escher P
Genes (Basel) 2021 May 26;12(6) doi: 10.3390/genes12060812. PMID: 34073554Free PMC Article
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Diagnosis

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
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. PMID: 35119454Free PMC Article
Predominance of hyperopia in autosomal dominant Best vitelliform macular dystrophy.
Coussa RG, Binkley EM, Wilkinson ME, Andorf JL, Tucker BA, Mullins RF, Sohn EH, Yannuzzi LA, Stone EM, Han IC
Br J Ophthalmol 2022 Apr;106(4):522-527. Epub 2020 Nov 26 doi: 10.1136/bjophthalmol-2020-317763. PMID: 33243830
Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.
Buhler VMM, Berger L, Schaller A, Zinkernagel MS, Wolf S, Escher P
Genes (Basel) 2021 May 26;12(6) doi: 10.3390/genes12060812. PMID: 34073554Free PMC Article
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Therapy

Tablet-based 'ON/OFF' pathway test can distinguish between rod- and cone-dominated diseases.
Hathibelagal AR, Bhutia P, Das M, Babu H, Jalali S, Takkar B, Paremeswarappa DC, Ballae Ganeshrao S
Ophthalmic Physiol Opt 2023 Mar;43(2):231-238. Epub 2022 Nov 22 doi: 10.1111/opo.13072. PMID: 36416095
Antisense oligonucleotide therapeutics in clinical trials for the treatment of inherited retinal diseases.
Xue K, MacLaren RE
Expert Opin Investig Drugs 2020 Oct;29(10):1163-1170. Epub 2020 Sep 1 doi: 10.1080/13543784.2020.1804853. PMID: 32741234
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article
Long-term follow-up of autosomal dominant Stargardt macular dystrophy (STGD3) subjects enrolled in a fish oil supplement interventional trial.
Choi R, Gorusupudi A, Bernstein PS
Ophthalmic Genet 2018 Jun;39(3):307-313. Epub 2018 Jan 29 doi: 10.1080/13816810.2018.1430240. PMID: 29377748Free PMC Article
Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation.
Hubbard AF, Askew EW, Singh N, Leppert M, Bernstein PS
Arch Ophthalmol 2006 Feb;124(2):257-63. doi: 10.1001/archopht.124.2.257. PMID: 16476896

Prognosis

Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.
Schroeder M, Kjellström U
Mol Vis 2018;24:1-16. Epub 2018 Jan 4 PMID: 29386879Free PMC Article
Long-term follow-up of autosomal dominant Stargardt macular dystrophy (STGD3) subjects enrolled in a fish oil supplement interventional trial.
Choi R, Gorusupudi A, Bernstein PS
Ophthalmic Genet 2018 Jun;39(3):307-313. Epub 2018 Jan 29 doi: 10.1080/13816810.2018.1430240. PMID: 29377748Free PMC Article
PROM1 gene variations in Brazilian patients with macular dystrophy.
Salles MV, Motta FL, Dias da Silva E, Varela Lima Teixeira P, Antunes Costa K, Filippelli-Silva R, Martin R, Pesquero JB, Ferraz Sallum JM
Ophthalmic Genet 2017 Jan-Feb;38(1):39-42. Epub 2017 Jan 17 doi: 10.1080/13816810.2016.1275022. PMID: 28095140
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q.
Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack A, Sheffield VC
Arch Ophthalmol 1994 Jun;112(6):765-72. doi: 10.1001/archopht.1994.01090180063036. PMID: 8002834

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
Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.
Buhler VMM, Berger L, Schaller A, Zinkernagel MS, Wolf S, Escher P
Genes (Basel) 2021 May 26;12(6) doi: 10.3390/genes12060812. PMID: 34073554Free PMC Article
Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration.
Wang Y, Wang P, Li S, Ouyang J, Jia X, Xiao X, Yang J, Li X, Sun W, Zhang Q
Invest Ophthalmol Vis Sci 2021 May 3;62(6):19. doi: 10.1167/iovs.62.6.19. PMID: 34008001Free PMC Article
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.
Oh JK, Ryu J, Lima de Carvalho JR Jr, Levi SR, Lee W, Tsamis E, Greenstein VC, Mahajan VB, Allikmets R, Tsang SH
Am J Ophthalmol 2020 Oct;218:40-53. Epub 2020 May 21 doi: 10.1016/j.ajo.2020.05.016. PMID: 32445700Free PMC Article
Genetics and molecular pathology of Stargardt-like macular degeneration.
Vasireddy V, Wong P, Ayyagari R
Prog Retin Eye Res 2010 May;29(3):191-207. Epub 2010 Jan 21 doi: 10.1016/j.preteyeres.2010.01.001. PMID: 20096366Free PMC Article

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