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Stargardt disease(FFM)

MedGen UID:
75734
•Concept ID:
C0271093
•
Disease or Syndrome
Synonyms: FFM; Fundus flavimaculatus; Stargardt Disease, Autosomal Recessive; Stargardt's disease
SNOMED CT: Stargardt's disease (70099003); Familial juvenile macular degeneration syndrome (70099003); Stargardt disease (70099003); FFM - Fundus flavimaculatus (47673003); Fundus flavimaculatus (47673003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Related genes: PROM1, ELOVL4, ABCA4
 
Monarch Initiative: MONDO:0019353
OMIM®: 248200; 601691
Orphanet: ORPHA827

Definition

A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. [from ORDO]

Professional guidelines

PubMed

Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites.
Wang WC, Huang CH, Chung HH, Chen PL, Hu FR, Yang CH, Yang CM, Lin CW, Hsu CC, Chen TC
Nat Commun 2024 Apr 26;15(1):3562. doi: 10.1038/s41467-024-47911-3. PMID: 38670966Free PMC Article
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
Am J Hum Genet 2022 Mar 3;109(3):498-507. Epub 2022 Feb 3 doi: 10.1016/j.ajhg.2022.01.008. PMID: 35120629Free PMC Article
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M
Am J Hum Genet 1999 Feb;64(2):422-34. doi: 10.1086/302251. PMID: 9973280Free PMC Article

Recent clinical studies

Etiology

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
Am J Hum Genet 2022 Mar 3;109(3):498-507. Epub 2022 Feb 3 doi: 10.1016/j.ajhg.2022.01.008. PMID: 35120629Free 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
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
Br J Ophthalmol 2019 Mar;103(3):390-397. Epub 2018 Jun 20 doi: 10.1136/bjophthalmol-2018-312064. PMID: 29925512Free PMC Article
Gene therapy in inherited retinal degenerative diseases, a review.
Takahashi VKL, Takiuti JT, Jauregui R, Tsang SH
Ophthalmic Genet 2018 Oct;39(5):560-568. Epub 2018 Jul 24 doi: 10.1080/13816810.2018.1495745. PMID: 30040511
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
Invest Ophthalmol Vis Sci 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936. PMID: 28118664Free PMC Article

Diagnosis

Differential Diagnosis of Age-Related Macular Degeneration.
Charbel Issa P, De Silva SR, Pfau K, Birtel J
Klin Monbl Augenheilkd 2025 Jan;242(1):7-21. Epub 2025 Jan 16 doi: 10.1055/a-2327-8597. PMID: 39820891
Stargardt macular dystrophy and therapeutic approaches.
Fujinami K, Waheed N, Laich Y, Yang P, Fujinami-Yokokawa Y, Higgins JJ, Lu JT, Curtiss D, Clary C, Michaelides M
Br J Ophthalmol 2024 Mar 20;108(4):495-505. doi: 10.1136/bjo-2022-323071. PMID: 37940365Free PMC Article
Stargardt disease masquerades.
Ricca AM, Han IC, Sohn EH
Curr Opin Ophthalmol 2021 May 1;32(3):214-224. doi: 10.1097/ICU.0000000000000750. PMID: 33653979
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
Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy.
Chiang JP, Lamey T, McLaren T, Thompson JA, Montgomery H, De Roach J
Expert Rev Mol Diagn 2015;15(10):1269-75. Epub 2015 Aug 26 doi: 10.1586/14737159.2015.1081057. PMID: 26394700Free PMC Article

Therapy

Therapy Approaches for Stargardt Disease.
Piotter E, McClements ME, MacLaren RE
Biomolecules 2021 Aug 9;11(8) doi: 10.3390/biom11081179. PMID: 34439845Free 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
Anti-VEGF and Retinal Dystrophies.
Parodi MB, Iacono P, Da Pozzo S
Curr Drug Targets 2020;21(12):1201-1207. doi: 10.2174/1389450121666200428103334. PMID: 32342816
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
Gene therapy in inherited retinal degenerative diseases, a review.
Takahashi VKL, Takiuti JT, Jauregui R, Tsang SH
Ophthalmic Genet 2018 Oct;39(5):560-568. Epub 2018 Jul 24 doi: 10.1080/13816810.2018.1495745. PMID: 30040511

Prognosis

Genotype-Phenotype Association in ABCA4-Associated Retinopathy.
Pfau M, Zein WM, Huryn LA, Cukras CA, Jeffrey BG, Hufnagel RB, Brooks BP
Adv Exp Med Biol 2023;1415:289-295. doi: 10.1007/978-3-031-27681-1_42. PMID: 37440047Free PMC Article
Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration.
Molday RS, Garces FA, Scortecci JF, Molday LL
Prog Retin Eye Res 2022 Jul;89:101036. Epub 2021 Dec 23 doi: 10.1016/j.preteyeres.2021.101036. PMID: 34954332
Therapy Approaches for Stargardt Disease.
Piotter E, McClements ME, MacLaren RE
Biomolecules 2021 Aug 9;11(8) doi: 10.3390/biom11081179. PMID: 34439845Free PMC Article
Stargardt Disease.
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27. PMID: 30578500
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
Invest Ophthalmol Vis Sci 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936. PMID: 28118664Free PMC Article

Clinical prediction guides

Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.
Hanany M, Shalom S, Ben-Yosef T, Sharon D
Cold Spring Harb Perspect Med 2024 Feb 1;14(2) doi: 10.1101/cshperspect.a041277. PMID: 37460155Free PMC Article
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
Am J Hum Genet 2022 Mar 3;109(3):498-507. Epub 2022 Feb 3 doi: 10.1016/j.ajhg.2022.01.008. PMID: 35120629Free PMC Article
Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration.
Molday RS, Garces FA, Scortecci JF, Molday LL
Prog Retin Eye Res 2022 Jul;89:101036. Epub 2021 Dec 23 doi: 10.1016/j.preteyeres.2021.101036. PMID: 34954332
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
Br J Ophthalmol 2019 Mar;103(3):390-397. Epub 2018 Jun 20 doi: 10.1136/bjophthalmol-2018-312064. PMID: 29925512Free PMC Article
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
Invest Ophthalmol Vis Sci 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936. PMID: 28118664Free PMC Article

Recent systematic reviews

Stem cell therapy for inherited retinal diseases: a systematic review and meta-analysis.
Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
Wang Y, Sun W, Zhou J, Li X, Jiang Y, Li S, Jia X, Xiao X, Ouyang J, Wang Y, Zhou L, Long Y, Liu M, Li Y, Yi Z, Wang P, Zhang Q
Invest Ophthalmol Vis Sci 2022 May 2;63(5):28. doi: 10.1167/iovs.63.5.28. PMID: 35608843Free PMC Article
Stem Cell-based Treatment Strategies for Degenerative Diseases of the Retina.
Nair DSR, Thomas BB
Curr Stem Cell Res Ther 2022;17(3):214-225. doi: 10.2174/1574888X16666210804112104. PMID: 34348629Free PMC Article
Treatments for dry age-related macular degeneration and Stargardt disease: a systematic review.
Waugh N, Loveman E, Colquitt J, Royle P, Yeong JL, Hoad G, Lois N
Health Technol Assess 2018 May;22(27):1-168. doi: 10.3310/hta22270. PMID: 29846169Free PMC Article
Timing of cognitive decline in CLN3 disease.
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM
J Inherit Metab Dis 2018 Mar;41(2):257-261. Epub 2018 Feb 1 doi: 10.1007/s10545-018-0143-x. PMID: 29392585Free PMC Article

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