U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
 
Gene (location): TIMP3 (22q12.3)
 
Monarch Initiative: MONDO:0007640
OMIM®: 136900
Orphanet: ORPHA59181

Definition

Sorsby fundus dystrophy 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.
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.
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.
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.
Chorioretinal atrophy
MedGen UID:
884881
Concept ID:
C4048273
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.

Term Hierarchy

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

Professional guidelines

PubMed

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
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

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
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
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
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
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860

Diagnosis

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
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
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
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
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

Therapy

Spaide RF
Retin Cases Brief Rep 2022 Jan 1;16(1):44-47. doi: 10.1097/ICB.0000000000000946. PMID: 31764885
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
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
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
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860

Prognosis

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
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
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
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
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860

Clinical prediction guides

Tsokolas G
Medicine (Baltimore) 2022 Sep 23;101(38):e30595. doi: 10.1097/MD.0000000000030595. PMID: 36197222Free PMC Article
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
Wolk A, Upadhyay M, Ali M, Suh J, Stoehr H, Bonilha VL, Anand-Apte B
Redox Biol 2020 Oct;37:101681. Epub 2020 Aug 10 doi: 10.1016/j.redox.2020.101681. PMID: 32828705Free PMC Article
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
Assink JJ, de Backer E, ten Brink JB, Kohno T, de Jong PT, Bergen AA, Meire F
Br J Ophthalmol 2000 Jul;84(7):682-6. doi: 10.1136/bjo.84.7.682. PMID: 10873973Free 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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...