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Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study.

Abstract：

OBJECTIVE:To determine the ophthalmologic findings, especially the nature of retinal vascular changes, and their clinical significance in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a disease that causes migraine, recurrent strokes, and finally subcortical vascular dementia. DESIGN:Cross-sectional study. PARTICIPANTS:Thirty-eight CADASIL patients (19 to 61 years old; 20 in a prestroke group, 15 in a stroke group, and 3 in a dementia group), all with the R133C NOTCH3 mutation and including one homozygous patient, underwent a detailed ophthalmologic examination. METHODS:Common cardiovascular risk factors were evaluated. Ophthalmologic examination included best-corrected visual acuity, anterior- and posterior-segment biomicroscopy, and measurement of intraocular pressure. In 33 patients and 16 healthy controls (20-64 years old), retinal fundus photographs were taken. Diameters of all arterioles and venules located in the area from 0.5 to 1.0 disc diameters from the optic disc margin were measured with a computer-based program and arteriole-to-venule (A/V) ratios were calculated from digitized photographs. RESULTS:General arterial narrowing and arteriovenous nickings were common. Straightening of the retinal arterioles and a marked wall reflex (n = 6) occurred. The A/V ratio of CADASIL patients was significantly (P< 0.001) lower than that of controls. One patient had one retinal microinfarct and hemorrhages. The homozygous patient had a chorioretinal scar as a sign of circulatory deficiency. Anterior-segment changes included mild iris atrophy (n = 5) and various degrees of lens opacities. Visual acuity was normal in all but 2 patients, who had cataract and amblyopia. CONCLUSIONS:The generalized arteriopathy of CADASIL causes a wide variety of changes in retinal arterioles but only minimal functional disturbances. These findings are consistent with alterations in arterioles in the cerebral cortex with which the retina and its arterioles are analogous, but contrast with the severe damage of cerebral white matter arterioles.

journal_name

Ophthalmology

journal_title

Ophthalmology

authors

Roine S,Harju M,Kivelä TT,Pöyhönen M,Nikoskelainen E,Tuisku S,Kalimo H,Viitanen M,Summanen PA

doi

10.1016/j.ophtha.2006.03.030

subject

Has Abstract

pub_date

2006-08-01 00:00:00

pages

1411-7

issue

eissn

0161-6420

issn

1549-4713

pii

S0161-6420(06)00439-8

journal_volume

113

pub_type

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Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study.