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. 1997 May;81(5):373–377. doi: 10.1136/bjo.81.5.373

Ocular abnormalities in thin basement membrane disease

D Colville 1, J Savige 1, P Branley 1, D Wilson 1
PMCID: PMC1722176  PMID: 9227202

Abstract

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.
METHODS—The 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.
RESULTS—No 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.
CONCLUSIONS—The 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.



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Figure 1  .

Figure 1  

Figure 1  

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(A) Electron micrograph showing diffuse thinning of the glomerular basement membrane (arrows) in a patient with thin basement membrane disease (TBMD) whose optic fundus is shown in (B) and (C) (× 1440). (B) There is retinal pigment epithelial clumping and maculopathy (thick arrow), and scattered small yellow-white round dots (small arrows), both close to vessels and in the intervascular spaces in the fundal photograph of the left eye of a patient (IM) with TBMD. (C) Fluorescein angiogram of the fundus of the left eye in the same patient, showing increased fluorescence in the perifoveolar region, but no increased fluorescence of white dots, indicating that these are not small hard drusen.

Figure 2  .

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The perifoveal dot and fleck retinopathy in a patient with X linked Alport syndrome (NH).

Figure 3  .

Figure 3  

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There is no correlation between the average number of retinal dots in any individual and (A) the age of the patients, (B) the number of urinary RBC × 106/l at presentation, or (C) the amount of proteinuria at presentation.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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