Retinal basement membrane abnormalities and the retinopathy of Alport syndrome

Judy Savige, John Liu, Delia Cabrera DeBuc, James T. Handa, Gregory S. Hageman, Yan Yan Wang, John D. Parkin, Brendan Vote, Rob Fassett, Shirley Sarks, Deb Colville

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

PURPOSE. To determine the effects of X-linked and autosomal recessive Alport syndrome on retinal basement membranes and how these result in the characteristic perimacular dot-andfleck retinopathy, lozenge, and macular hole. METHODS. The type IV collagen chains present in the normal retina were determined immunohistochemically. Ten patients with Alport syndrome underwent retinal photography and optical coherence tomography to determine the thickness of the internal limiting membrane (ILM) by segmentation analysis, the layers affected by the retinopathy, and any correlates of the lozenge and macular hole. Bruch's membrane was examined directly by electron microscopy in a donated Alport eye. RESULTS. The α3α4α5 type IV collagen network was present in the normal ILM and in the retinal pigment epithelium basement membrane of Bruch's membrane. In Alport syndrome, the ILM/nerve fiber layer and Bruch's membrane were both thinned. The dot-and-fleck retinopathy corresponded to hyperreflectivity of the ILM/nerve fiber layer in the distribution of the nerve fiber layer. The lozenge and macular hole corresponded to temporal macular thinning. The thinning across the whole retina was principally due to thinning of the ILM/nerve fiber layer and inner nuclear layer. CONCLUSIONS. The Alport dot-and-fleck retinopathy results primarily from abnormalities in the ILM/nerve fiber layer rather than in Bruch's membrane. Thinning of the ILM/nerve fiber layer contributes to the retinopathy, lozenge, and macular hole, possibly through interfering with nutrition of the overlying retina or clearance of metabolic by-products.

Original languageEnglish
Pages (from-to)1621-1627
Number of pages7
JournalInvestigative Ophthalmology and Visual Science
Volume51
Issue number3
DOIs
StatePublished - Mar 1 2010

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Hereditary Nephritis
Basement Membrane
Nerve Fibers
Bruch Membrane
Retinal Perforations
Membranes
Retina
Collagen Type IV
Retinal Pigment Epithelium
Photography
Optical Coherence Tomography
Electron Microscopy

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience
  • Medicine(all)

Cite this

Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. / Savige, Judy; Liu, John; Cabrera DeBuc, Delia; Handa, James T.; Hageman, Gregory S.; Wang, Yan Yan; Parkin, John D.; Vote, Brendan; Fassett, Rob; Sarks, Shirley; Colville, Deb.

In: Investigative Ophthalmology and Visual Science, Vol. 51, No. 3, 01.03.2010, p. 1621-1627.

Research output: Contribution to journalArticle

Savige, J, Liu, J, Cabrera DeBuc, D, Handa, JT, Hageman, GS, Wang, YY, Parkin, JD, Vote, B, Fassett, R, Sarks, S & Colville, D 2010, 'Retinal basement membrane abnormalities and the retinopathy of Alport syndrome', Investigative Ophthalmology and Visual Science, vol. 51, no. 3, pp. 1621-1627. https://doi.org/10.1167/iovs.08-3323
Savige, Judy ; Liu, John ; Cabrera DeBuc, Delia ; Handa, James T. ; Hageman, Gregory S. ; Wang, Yan Yan ; Parkin, John D. ; Vote, Brendan ; Fassett, Rob ; Sarks, Shirley ; Colville, Deb. / Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. In: Investigative Ophthalmology and Visual Science. 2010 ; Vol. 51, No. 3. pp. 1621-1627.
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AU - Wang, Yan Yan

AU - Parkin, John D.

AU - Vote, Brendan

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AU - Sarks, Shirley

AU - Colville, Deb

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N2 - PURPOSE. To determine the effects of X-linked and autosomal recessive Alport syndrome on retinal basement membranes and how these result in the characteristic perimacular dot-andfleck retinopathy, lozenge, and macular hole. METHODS. The type IV collagen chains present in the normal retina were determined immunohistochemically. Ten patients with Alport syndrome underwent retinal photography and optical coherence tomography to determine the thickness of the internal limiting membrane (ILM) by segmentation analysis, the layers affected by the retinopathy, and any correlates of the lozenge and macular hole. Bruch's membrane was examined directly by electron microscopy in a donated Alport eye. RESULTS. The α3α4α5 type IV collagen network was present in the normal ILM and in the retinal pigment epithelium basement membrane of Bruch's membrane. In Alport syndrome, the ILM/nerve fiber layer and Bruch's membrane were both thinned. The dot-and-fleck retinopathy corresponded to hyperreflectivity of the ILM/nerve fiber layer in the distribution of the nerve fiber layer. The lozenge and macular hole corresponded to temporal macular thinning. The thinning across the whole retina was principally due to thinning of the ILM/nerve fiber layer and inner nuclear layer. CONCLUSIONS. The Alport dot-and-fleck retinopathy results primarily from abnormalities in the ILM/nerve fiber layer rather than in Bruch's membrane. Thinning of the ILM/nerve fiber layer contributes to the retinopathy, lozenge, and macular hole, possibly through interfering with nutrition of the overlying retina or clearance of metabolic by-products.

AB - PURPOSE. To determine the effects of X-linked and autosomal recessive Alport syndrome on retinal basement membranes and how these result in the characteristic perimacular dot-andfleck retinopathy, lozenge, and macular hole. METHODS. The type IV collagen chains present in the normal retina were determined immunohistochemically. Ten patients with Alport syndrome underwent retinal photography and optical coherence tomography to determine the thickness of the internal limiting membrane (ILM) by segmentation analysis, the layers affected by the retinopathy, and any correlates of the lozenge and macular hole. Bruch's membrane was examined directly by electron microscopy in a donated Alport eye. RESULTS. The α3α4α5 type IV collagen network was present in the normal ILM and in the retinal pigment epithelium basement membrane of Bruch's membrane. In Alport syndrome, the ILM/nerve fiber layer and Bruch's membrane were both thinned. The dot-and-fleck retinopathy corresponded to hyperreflectivity of the ILM/nerve fiber layer in the distribution of the nerve fiber layer. The lozenge and macular hole corresponded to temporal macular thinning. The thinning across the whole retina was principally due to thinning of the ILM/nerve fiber layer and inner nuclear layer. CONCLUSIONS. The Alport dot-and-fleck retinopathy results primarily from abnormalities in the ILM/nerve fiber layer rather than in Bruch's membrane. Thinning of the ILM/nerve fiber layer contributes to the retinopathy, lozenge, and macular hole, possibly through interfering with nutrition of the overlying retina or clearance of metabolic by-products.

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