Ocular abnormalities in thin basement membrane disease
a Ophthalmology Unit, University Department of Medicine
and Renal Unit, Austin and Repatriation Medical Centre, Victoria,
Australia, b Box Hill Hospital, Box Hill, Victoria, Australia
Correspondence to: Dr Judy Savige, University Department of Medicine, Austin and Repatriation Medical Centre, Heidelberg, Victoria 3084, Australia.
Accepted for publication 11 December 1997
AIM/BACKGROUND
Alport syndrome is an X linked
disease that results in renal failure, deafness, and ocular
abnormalities including a dot and fleck retinopathy and anterior
lenticonus. The ultrastructural appearance of the glomerular basement
membrane in thin basement membrane disease (TBMD) resembles that seen
in some patients with Alport syndrome, and in some cases this disease
is inherited too. The aim of this study was to determine whether
patients with TBMD have any ocular abnormalities.
METHODSThe eyes of 17 unrelated individuals with
TBMD were studied by slit-lamp, including biomicroscopic fundus
examination with a 78 D lens, by direct ophthalmoscopy, and by fundal
photographs. The findings were compared with those in patients with IgA
glomerulonephritis or Alport syndrome, and in normals.
RESULTSNo patient with TBMD had a dot and fleck
retinopathy or anterior lenticonus. A corneal dystrophy (n = 2) or
pigmentation (n = 1), and retinal pigment epithelial clumping and
maculopathy (n = 1) were noted. Corneal, lens, and retinal dots were
found in five (29%), three (18%), and 16 (94%) patients,
respectively, but these were also demonstrated in individuals with
other renal diseases and in normal individuals.
CONCLUSIONSThe dot and fleck retinopathy and
anterior lenticonus typical of Alport syndrome do not occur in TBMD.
The protein abnormality and genetic defect in TBMD are not known, but
the lack of ocular lesions suggests that the abnormal protein in this
disease is more sparsely distributed or less important in the basement
membranes of the eye than of the kidney. Alternatively, the protein may be less affected by the mutations responsible for TBMD.
© 1997 by British Journal of Ophthalmology
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
-
Tryggvason, K., Patrakka, J.
(2006). Thin Basement Membrane Nephropathy. J. Am. Soc. Nephrol.
17: 813-822
[Full Text]
- Full Text
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
- Citation Map
Services
- Email this link to a friend
- Similar articles in this journal
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
