U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
 
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

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: 37440047
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
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

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
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
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
Sparrow JR, Duncker T, Schuerch K, Paavo M, de Carvalho JRL Jr
Prog Retin Eye Res 2020 Jan;74:100774. Epub 2019 Aug 28 doi: 10.1016/j.preteyeres.2019.100774. PMID: 31472235Free PMC Article
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

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
Ricca AM, Han IC, Sohn EH
Curr Opin Ophthalmol 2021 May 1;32(3):214-224. doi: 10.1097/ICU.0000000000000750. PMID: 33653979
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
Dysli C, Wolf S, Berezin MY, Sauer L, Hammer M, Zinkernagel MS
Prog Retin Eye Res 2017 Sep;60:120-143. Epub 2017 Jun 30 doi: 10.1016/j.preteyeres.2017.06.005. PMID: 28673870Free PMC Article
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Therapy

Piotter E, McClements ME, MacLaren RE
Biomolecules 2021 Aug 9;11(8) doi: 10.3390/biom11081179. PMID: 34439845Free PMC Article
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
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
Georgiou M, Kalitzeos A, Patterson EJ, Dubra A, Carroll J, Michaelides M
Br J Ophthalmol 2018 Aug;102(8):1028-1035. Epub 2017 Nov 15 doi: 10.1136/bjophthalmol-2017-311328. PMID: 29141905Free PMC Article
Schwartz SD, Regillo CD, Lam BL, Eliott D, Rosenfeld PJ, Gregori NZ, Hubschman JP, Davis JL, Heilwell G, Spirn M, Maguire J, Gay R, Bateman J, Ostrick RM, Morris D, Vincent M, Anglade E, Del Priore LV, Lanza R
Lancet 2015 Feb 7;385(9967):509-16. Epub 2014 Oct 15 doi: 10.1016/S0140-6736(14)61376-3. PMID: 25458728

Prognosis

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
Piotter E, McClements ME, MacLaren RE
Biomolecules 2021 Aug 9;11(8) doi: 10.3390/biom11081179. PMID: 34439845Free PMC Article
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27. PMID: 30578500
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
Schwartz SD, Regillo CD, Lam BL, Eliott D, Rosenfeld PJ, Gregori NZ, Hubschman JP, Davis JL, Heilwell G, Spirn M, Maguire J, Gay R, Bateman J, Ostrick RM, Morris D, Vincent M, Anglade E, Del Priore LV, Lanza R
Lancet 2015 Feb 7;385(9967):509-16. Epub 2014 Oct 15 doi: 10.1016/S0140-6736(14)61376-3. PMID: 25458728

Clinical prediction guides

Daich Varela M, Laich Y, Hashem SA, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2023 Nov;130(11):1182-1190. Epub 2023 Jun 17 doi: 10.1016/j.ophtha.2023.06.010. PMID: 37331482Free PMC Article
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
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
Ochinciuc R, Ochinciuc U, Baltă G, Al Barri L, Pac C, Adrian T, Baltă F, Burcea M
Rom J Ophthalmol 2021 Apr-Jun;65(2):204-211. doi: 10.22336/rjo.2021.41. PMID: 34179590Free PMC Article
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

Lam BL, Scholl HPN, Doub D, Sperling M, Hashim M, Li N
Retina 2024 Jan 1;44(1):1-9. doi: 10.1097/IAE.0000000000003920. PMID: 37683184
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
Koster C, Wever KE, Wagstaff EL, Hirk KTVD, Hooijmans CR, Bergen AA
Int J Mol Sci 2020 Apr 14;21(8) doi: 10.3390/ijms21082719. PMID: 32295315Free PMC Article
Shen LL, Sun M, Grossetta Nardini HK, Del Priore LV
Ophthalmology 2019 Sep;126(9):1288-1296. Epub 2019 May 17 doi: 10.1016/j.ophtha.2019.05.015. PMID: 31227323
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...