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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
Cost-utility analysis of de-escalating biological disease-modifying anti-rheumatic drugs in patients with rheumatoid arthritis.
Birkner B, Rech J, Stargardt T
PLoS One 2020;15(1):e0226754. Epub 2020 Jan 2 doi: 10.1371/journal.pone.0226754. PMID: 31895926Free 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
Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration.
Karan G, Lillo C, Yang Z, Cameron DJ, Locke KG, Zhao Y, Thirumalaichary S, Li C, Birch DG, Vollmer-Snarr HR, Williams DS, Zhang K
Proc Natl Acad Sci U S A 2005 Mar 15;102(11):4164-9. Epub 2005 Mar 4 doi: 10.1073/pnas.0407698102. PMID: 15749821Free 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
Cost-utility analysis of de-escalating biological disease-modifying anti-rheumatic drugs in patients with rheumatoid arthritis.
Birkner B, Rech J, Stargardt T
PLoS One 2020;15(1):e0226754. Epub 2020 Jan 2 doi: 10.1371/journal.pone.0226754. PMID: 31895926Free 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
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?
Donato L, Scimone C, Rinaldi C, Aragona P, Briuglia S, D'Ascola A, D'Angelo R, Sidoti A
Invest Ophthalmol Vis Sci 2018 Feb 1;59(2):843-857. doi: 10.1167/iovs.17-22962. PMID: 29417145
Multifocal electroretinogram (mfERG) in a family with occult macular dystrophy (OMD).
Wildberger H, Niemeyer G, Junghardt A
Klin Monbl Augenheilkd 2003 Mar;220(3):111-5. doi: 10.1055/s-2003-38161. PMID: 12664360

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
Cost-utility analysis of de-escalating biological disease-modifying anti-rheumatic drugs in patients with rheumatoid arthritis.
Birkner B, Rech J, Stargardt T
PLoS One 2020;15(1):e0226754. Epub 2020 Jan 2 doi: 10.1371/journal.pone.0226754. PMID: 31895926Free 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
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

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
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
Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration.
Karan G, Lillo C, Yang Z, Cameron DJ, Locke KG, Zhao Y, Thirumalaichary S, Li C, Birch DG, Vollmer-Snarr HR, Williams DS, Zhang K
Proc Natl Acad Sci U S A 2005 Mar 15;102(11):4164-9. Epub 2005 Mar 4 doi: 10.1073/pnas.0407698102. PMID: 15749821Free 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
Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration.
Karan G, Lillo C, Yang Z, Cameron DJ, Locke KG, Zhao Y, Thirumalaichary S, Li C, Birch DG, Vollmer-Snarr HR, Williams DS, Zhang K
Proc Natl Acad Sci U S A 2005 Mar 15;102(11):4164-9. Epub 2005 Mar 4 doi: 10.1073/pnas.0407698102. PMID: 15749821Free PMC Article
Evaluation of the ELOVL4 gene in patients with age-related macular degeneration.
Ayyagari R, Zhang K, Hutchinson A, Yu Z, Swaroop A, Kakuk LE, Seddon JM, Bernstein PS, Lewis RA, Tammur J, Yang Z, Li Y, Zhang H, Yashar BM, Liu J, Petrukhin K, Sieving PA, Allikmets R
Ophthalmic Genet 2001 Dec;22(4):233-9. doi: 10.1076/opge.22.4.233.2219. PMID: 11803489
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

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