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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.
 
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.
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

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
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

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
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

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
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860
Felbor U, Suvanto EA, Forsius HR, Eriksson AW, Weber BH
Am J Hum Genet 1997 Jan;60(1):57-62. PMID: 8981947Free PMC Article

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

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