Literature DB >> 1085369

Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family.

H Kalmus, D Seedburgh.   

Abstract

A genealogical link was established six generations back between a family living in England and Australia, and one of the families reported originally by Sorsby et al (1949) as suffering from autosomal dominant inflammatory macular dystrophy (fundus dystrophy). The onset--in the fifth decade of life--and the progress of the condition, which usually ends in blindness, has been observed in a number of patients and the prodromal development of a colour vision deficiency in some of them confirmed. This defect is fundamentally different from the X-linked colour vision defects and merits further investigation.

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Year:  1976        PMID: 1085369      PMCID: PMC1013414          DOI: 10.1136/jmg.13.4.271

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  8 in total

1.  The familial distribution of congenital tritanopia, with some remarks on some similar conditions.

Authors:  H KALMUS
Journal:  Ann Hum Genet       Date:  1955-08       Impact factor: 1.670

2.  THE DYSTROPHIES OF THE MACULA.

Authors:  A Sorsby
Journal:  Br J Ophthalmol       Date:  1940-10       Impact factor: 4.638

3.  A fundus dystrophy with unusual features.

Authors:  A SORSBY; M E J MASON
Journal:  Br J Ophthalmol       Date:  1949-02       Impact factor: 4.638

4.  Diagnosis of tritanopic vision by means of the D and H color-rule.

Authors:  H Kalmus; T Neuhann; D Seedburgh
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1974

5.  Impairment of colour vision in patients with ocular hypertension and glaucoma. With special reference to the "D and H color-rule".

Authors:  H Kalmus; I Luke; D Seedburgh
Journal:  Br J Ophthalmol       Date:  1974-11       Impact factor: 4.638

6.  Metameric 'Color Rule' matches of normal, colour deficient, cataractic, and aphakic observers.

Authors:  H Kalmus
Journal:  Ann Hum Genet       Date:  1972-07       Impact factor: 1.670

7.  Secular trends in genetic structure: an isonymic analysis of Northumberland parish records.

Authors:  D F Roberts; C P Rawling
Journal:  Ann Hum Biol       Date:  1974-10       Impact factor: 1.533

8.  Sorsby's familial pseudo-inflammatory macular dystrophy.

Authors:  H B Fraser; D C Wallace
Journal:  Am J Ophthalmol       Date:  1971-06       Impact factor: 5.258

  8 in total
  7 in total

1.  Ophthalmic genetics: a genealogical guide to sources in England and Wales.

Authors:  M Jay
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

2.  Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.

Authors:  J J Assink; E de Backer; J B ten Brink; T Kohno; P T de Jong; A A Bergen; F Meire
Journal:  Br J Ophthalmol       Date:  2000-07       Impact factor: 4.638

3.  Pseudoinflammatory macular dystrophy.

Authors:  R E Carr; K G Noble
Journal:  Trans Am Ophthalmol Soc       Date:  1977

4.  S156C mutation in tissue inhibitor of metalloproteinases-3 induces increased angiogenesis.

Authors:  Jian Hua Qi; Ganying Dai; Philip Luthert; Shyam Chaurasia; Joe Hollyfield; Bernhard H F Weber; Heidi Stöhr; Bela Anand-Apte
Journal:  J Biol Chem       Date:  2009-05-28       Impact factor: 5.157

5.  The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration.

Authors:  Alyson Wolk; Mala Upadhyay; Mariya Ali; Jason Suh; Heidi Stoehr; Vera L Bonilha; Bela Anand-Apte
Journal:  Redox Biol       Date:  2020-08-10       Impact factor: 11.799

6.  Tissue inhibitor of metalloproteinases-3 peptides inhibit angiogenesis and choroidal neovascularization in mice.

Authors:  Jian Hua Qi; Quteba Ebrahem; Mariya Ali; Alecia Cutler; Brent Bell; Nicholas Prayson; Jonathan Sears; Vera Knauper; Gillian Murphy; Bela Anand-Apte
Journal:  PLoS One       Date:  2013-03-01       Impact factor: 3.240

7.  Role of FGF and Hyaluronan in Choroidal Neovascularization in Sorsby Fundus Dystrophy.

Authors:  Alyson Wolk; Dilara Hatipoglu; Alecia Cutler; Mariya Ali; Lestella Bell; Jian Hua Qi; Rupesh Singh; Julia Batoki; Laura Karle; Vera L Bonilha; Oliver Wessely; Heidi Stoehr; Vincent Hascall; Bela Anand-Apte
Journal:  Cells       Date:  2020-03-04       Impact factor: 6.600

  7 in total

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