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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

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
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

Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
Choroidal Caverns in Stargardt Disease.
Mucciolo DP, Giorgio D, Lippera M, Dattilo V, Passerini I, Pelo E, Sodi A, Virgili G, Giansanti F, Murro V
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):25. doi: 10.1167/iovs.63.2.25. PMID: 35156991Free PMC Article
Genotype-Specific Lesion Growth Rates in Stargardt Disease.
Heath Jeffery RC, Thompson JA, Lo J, Lamey TM, McLaren TL, McAllister IL, Constable IJ, De Roach JN, Chen FK
Genes (Basel) 2021 Dec 14;12(12) doi: 10.3390/genes12121981. PMID: 34946930Free 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
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

Diagnosis

Inner retinal thickness in Stargardt disease.
Battaglia Parodi M, Arrigo A, Bianco L, Antropoli A, Saladino A, Pili L, Pina A, Battista M, Bandello F
Eur J Ophthalmol 2024 Sep;34(5):1373-1376. Epub 2024 Feb 4 doi: 10.1177/11206721241229473. PMID: 38311892
Clinical classification of Stargardt disease.
Pas JAAH, Dhooge PPA, Hoyng CB
Graefes Arch Clin Exp Ophthalmol 2024 May;262(5):1377-1379. Epub 2023 Nov 7 doi: 10.1007/s00417-023-06292-x. PMID: 37934290Free PMC Article
Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
Microperimetry in Three Inherited Retinal Disorders.
Bagdonaite-Bejarano L, Hansen RM, Fulton AB
Semin Ophthalmol 2019;34(4):334-339. Epub 2019 May 30 doi: 10.1080/08820538.2019.1622025. PMID: 31146612
Juvenile Macular Degenerations.
Altschwager P, Ambrosio L, Swanson EA, Moskowitz A, Fulton AB
Semin Pediatr Neurol 2017 May;24(2):104-109. Epub 2017 May 23 doi: 10.1016/j.spen.2017.05.005. PMID: 28941524Free PMC Article

Therapy

Where Are We with RPE Replacement Therapy? A Translational Review from the Ophthalmologist Perspective.
Raimondi R, Zollet P, De Rosa FP, Tsoutsanis P, Stravalaci M, Paulis M, Inforzato A, Romano MR
Int J Mol Sci 2022 Jan 8;23(2) doi: 10.3390/ijms23020682. PMID: 35054869Free PMC Article
Retinal toxicities of systemic anticancer drugs.
Arora S, Surakiatchanukul T, Arora T, Errera MH, Agrawal H, Lupidi M, Chhablani J
Surv Ophthalmol 2022 Jan-Feb;67(1):97-148. Epub 2021 May 26 doi: 10.1016/j.survophthal.2021.05.007. PMID: 34048859
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
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
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
Juvenile-onset macular degeneration and allied disorders.
North V, Gelman R, Tsang SH
Dev Ophthalmol 2014;53:44-52. Epub 2014 Apr 10 doi: 10.1159/000357293. PMID: 24732760Free PMC Article

Clinical prediction guides

Antisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in ABCA4.
Corradi Z, Hitti-Malin RJ, de Rooij LA, Garanto A, Collin RWJ, Cremers FPM
Nucleic Acid Ther 2024;34(3):125-133. Epub 2024 May 27 doi: 10.1089/nat.2024.0008. PMID: 38800942
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
Retinal toxicities of systemic anticancer drugs.
Arora S, Surakiatchanukul T, Arora T, Errera MH, Agrawal H, Lupidi M, Chhablani J
Surv Ophthalmol 2022 Jan-Feb;67(1):97-148. Epub 2021 May 26 doi: 10.1016/j.survophthal.2021.05.007. PMID: 34048859
Early Endosome Morphology in Health and Disease.
Kaur G, Lakkaraju A
Adv Exp Med Biol 2018;1074:335-343. doi: 10.1007/978-3-319-75402-4_41. PMID: 29721961Free 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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