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Sorsby fundus dystrophy(SFD)

MedGen UID:
338164
•Concept ID:
C1850938
•
Disease or Syndrome
Synonyms: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; MACULAR DYSTROPHY, HEMORRHAGIC; SFD; Sorsby fundus dystrophy, Lavia type; Sorsby's pseudoinflammatory macular dystrophy
SNOMED CT: Sorsby fundus dystrophy (193410003); Sorsby's fundus dystrophy (193410003); Sorsby pseudoinflammatory fundus dystrophy (193410003)
Modes of inheritance:
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 dominant inheritance (Orphanet)
 
Gene (location): TIMP3 (22q12.3)
 
Monarch Initiative: MONDO:0007640
OMIM®: 136900
Orphanet: ORPHA59181

Definition

Sorsby fundus dystrophy (SFD) is an autosomal dominant retinal dystrophy characterized by the loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life (summary by Wijesuriya et al., 1996). [from OMIM]

Clinical features

From HPO
Glaucoma
MedGen UID:
42224
•Concept ID:
C0017601
•
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
See: Feature record | Search on this feature
Blindness
MedGen UID:
99138
•Concept ID:
C0456909
•
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
See: Feature record | Search on this feature
Abnormal electroretinogram
MedGen UID:
96908
•Concept ID:
C0476397
•
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
See: Feature record | Search on this feature
Macular dystrophy
MedGen UID:
196451
•Concept ID:
C0730292
•
Disease or Syndrome
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
See: Feature record | Search on this feature
Chorioretinal atrophy
MedGen UID:
884881
•Concept ID:
C4048273
•
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSorsby fundus dystrophy

Professional guidelines

PubMed

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
Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.
Gliem M, Müller PL, Mangold E, Holz FG, Bolz HJ, Stöhr H, Weber BH, Charbel Issa P
Invest Ophthalmol Vis Sci 2015 Apr;56(4):2664-76. doi: 10.1167/iovs.14-15733. PMID: 25766588
Clinical course and treatment outcomes of Sorsby fundus dystrophy.
Sivaprasad S, Webster AR, Egan CA, Bird AC, Tufail A
Am J Ophthalmol 2008 Aug;146(2):228-234. Epub 2008 May 23 doi: 10.1016/j.ajo.2008.03.024. PMID: 18501328

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
The extracellular microenvironment in immune dysregulation and inflammation in retinal disorders.
Biasella F, Plössl K, Baird PN, Weber BHF
Front Immunol 2023;14:1147037. Epub 2023 Mar 1 doi: 10.3389/fimmu.2023.1147037. PMID: 36936905Free PMC Article
Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.
Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K
Am J Ophthalmol 2022 Feb;234:274-284. Epub 2021 Aug 2 doi: 10.1016/j.ajo.2021.07.032. PMID: 34352251
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
Nutrition and retinal degenerations.
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860

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
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
Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.
Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K
Am J Ophthalmol 2022 Feb;234:274-284. Epub 2021 Aug 2 doi: 10.1016/j.ajo.2021.07.032. PMID: 34352251
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
Choroidal neovascularization in sorsby fundus dystrophy treated with photodynamic therapy and intravitreal triamcinolone acetonide.
Peiretti E, Klancnik JM Jr, Spaide RF, Yannuzzi L
Retina 2005 Apr-May;25(3):377-9. doi: 10.1097/00006982-200504000-00024. PMID: 15805922

Therapy

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
OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy.
Mohla A, Khan K, Kasilian M, Michaelides M
BMJ Case Rep 2016 Sep 1;2016 doi: 10.1136/bcr-2016-216453. PMID: 27587748Free PMC Article
Clinical characteristics and current therapies for inherited retinal degenerations.
Sahel JA, Marazova K, Audo I
Cold Spring Harb Perspect Med 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. PMID: 25324231Free PMC Article
Choroidal neovascularization in sorsby fundus dystrophy treated with photodynamic therapy and intravitreal triamcinolone acetonide.
Peiretti E, Klancnik JM Jr, Spaide RF, Yannuzzi L
Retina 2005 Apr-May;25(3):377-9. doi: 10.1097/00006982-200504000-00024. PMID: 15805922
Nutrition and retinal degenerations.
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860

Prognosis

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
Potential CRISPR Base Editing Therapeutic Options in a Sorsby Fundus Dystrophy Patient.
Elsayed MEAA, Kaukonen M, Kiraly P, Kapetanovic JC, MacLaren RE
Genes (Basel) 2022 Nov 12;13(11) doi: 10.3390/genes13112103. PMID: 36421778Free PMC Article
Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.
Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K
Am J Ophthalmol 2022 Feb;234:274-284. Epub 2021 Aug 2 doi: 10.1016/j.ajo.2021.07.032. PMID: 34352251
Late-Stage Sorsby Fundus Dystrophy Manifesting Severe Vision Loss in the Absence of Choroidal Neovascularization.
Hanif AM, Jain N
Ophthalmic Surg Lasers Imaging Retina 2019 Aug 1;50(8):e215-e217. doi: 10.3928/23258160-20190806-15. PMID: 31415707
Nutrition and retinal degenerations.
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860

Clinical prediction guides

Potential CRISPR Base Editing Therapeutic Options in a Sorsby Fundus Dystrophy Patient.
Elsayed MEAA, Kaukonen M, Kiraly P, Kapetanovic JC, MacLaren RE
Genes (Basel) 2022 Nov 12;13(11) doi: 10.3390/genes13112103. PMID: 36421778Free PMC Article
Sorsby fundus dystrophy (SFD): A narrative review.
Tsokolas G
Medicine (Baltimore) 2022 Sep 23;101(38):e30595. doi: 10.1097/MD.0000000000030595. PMID: 36197222Free PMC Article
Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.
Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K
Am J Ophthalmol 2022 Feb;234:274-284. Epub 2021 Aug 2 doi: 10.1016/j.ajo.2021.07.032. PMID: 34352251
Reticular Pseudodrusen in Sorsby Fundus Dystrophy.
Gliem M, Müller PL, Mangold E, Bolz HJ, Stöhr H, Weber BH, Holz FG, Charbel Issa P
Ophthalmology 2015 Aug;122(8):1555-62. Epub 2015 Jun 12 doi: 10.1016/j.ophtha.2015.04.035. PMID: 26077580
Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.
Gregory CY, Wijesuriya S, Evans K, Jay M, Bird AC, Bhattacharya SS
J Med Genet 1995 Mar;32(3):240-1. doi: 10.1136/jmg.32.3.240. PMID: 7783180Free PMC Article

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    • ClinVar
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    • Gene
      Related information in NCBI Gene
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      Related information in GTR
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      Clinical tests in GTR
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      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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