May 2005
Volume 46, Issue 13
ARVO Annual Meeting Abstract  |   May 2005
Characterization of the Peripheral Retinopathy in X–Linked and Autosomal Recessive Alport Syndrome
Author Affiliations & Notes
  • D.J. Colville
    Centre for Eye Research Australi, University of Melbourne, East Melbourne, Australia
  • E.A. Shaw
    Austin Health, University of Melbourne, Heidelberg, Australia
  • Y. Wang
    Austin Health, University of Melbourne, Heidelberg, Australia
  • H. Dagher
    Austin Health, University of Melbourne, Heidelberg, Australia
  • R. Fassett
    Launceston General Hospital, Launceston, Australia
  • J. Savige
    Austin Health, University of Melbourne, Heidelberg, Australia
  • Footnotes
    Commercial Relationships  D.J. Colville, None; E.A. Shaw, None; Y. Wang, None; H. Dagher, None; R. Fassett, None; J. Savige, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 3297. doi:
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      D.J. Colville, E.A. Shaw, Y. Wang, H. Dagher, R. Fassett, J. Savige; Characterization of the Peripheral Retinopathy in X–Linked and Autosomal Recessive Alport Syndrome . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3297.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract: : Purpose: The perimacular dot–and–fleck retinopathy is well–described in both X–linked and autosomal recessive Alport syndrome and is diagnostic for these conditions. In addition a mid–peripheral or peripheral retinopathy has been described. This study aimed to characterize the peripheral retinopathy in patients with genetically–defined X–linked disease. Patients and Methods: Affected individuals with Alport syndrome and their families were studied. The diagnosis of Alport syndrome was made when the characteristic lamellation was present on ultrastructural examination of the glomerular basement membrane (GBM) in the individual or a family member. In all cases the nature of inheritance and affected status were confirmed by haplotype studies using microsatellite markers at the COL4A5 locus. All 9 affected individuals (and 9 carriers) with X–linked Alport syndrome) were examined by an experienced ophthalmologist for lenticonus and the central and peripheral retinopathies. Many of these also underwent central and peripheral retinal photography with a Zeiss film camera or a digital camera.Results: Nine males with X–linked Alport syndrome from 9 different families (median age 34 years, range 11–46) were studied. Seven had reached end–stage renal failure. All were deaf, 7 (78%) had lenticonus (or had already undergone lens extraction and replacement) and 8 (89%) had the perimacular retinopathy. All 9 (100%) had the peripheral retinopathy. Nine female carriers from 8 families with X–linked Alport syndrome (median age 43 years, range 8 64) were studied. All had haematuria, one (11%) had kidney failure, 2 (22%) were deaf, none had lenticonus, and one (11%) had a central retinopathy. Three of these patients had the peripheral retinopathy (33%), one of whom had central changes (11%). The peripheral retinopathy was usually patchy and varied in nature from small flecks to coarse coalescent spots. It was first noted in a 9 year old and appeared to become more extensive with increasing age.Conclusions: The peripheral retinopathy occurs in X–linked Alport syndrome and is sometimes present when the central retinopathy is absent. The demonstration the peripheral retinopathy may be useful diagnostically in patients suspected of Alport syndrome.

Keywords: retinal degenerations: hereditary • genetics • retina 

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