TY - JOUR
T1 - Retinal basement membrane abnormalities and the retinopathy of Alport syndrome
AU - Savige, Judy
AU - Liu, John
AU - DeBuc, Delia Cabrera
AU - Handa, James T.
AU - Hageman, Gregory S.
AU - Wang, Yan Yan
AU - Parkin, John D.
AU - Vote, Brendan
AU - Fassett, Rob
AU - Sarks, Shirley
AU - Colville, Deb
PY - 2010/3
Y1 - 2010/3
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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U2 - 10.1167/iovs.08-3323
DO - 10.1167/iovs.08-3323
M3 - Article
C2 - 19850830
AN - SCOPUS:77949889531
SN - 0146-0404
VL - 51
SP - 1621
EP - 1627
JO - Investigative Ophthalmology and Visual Science
JF - Investigative Ophthalmology and Visual Science
IS - 3
ER -