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[Autosomal dominant syndrome of retinal arterial tortuosity].

Authors :
Desmettre T
Moreau JM
Plaisier E
Source :
Journal francais d'ophtalmologie [J Fr Ophtalmol] 2006 Apr; Vol. 29 (4), pp. e8.
Publication Year :
2006

Abstract

Introduction: Autosomal dominant syndrome of retinal arterial tortuosity is a rare condition, often discovered after a benign macular hemorrhage.<br />Case Report: We report here the case of a 52-year-old man who was refereed to our center for an abrupt decrease in vision after an effort. The initial visual acuity was 2/10 for distance and Parinaud 6 for near vision. The biomicroscopic examination showed a small foveal hemorrhage associated with loops and bilateral vascular tortuosities limited to the arterioles. The aspect evoked inherited retinal arteriolar tortuosity. Questioning the patient revealed an antecedent of macular hemorrhage in the patient's sister that had spontaneously resolved. After a few months, redfree photographs were obtained from the two asymptomatic daughters of the patient, which showed a dominant arterial tortuosity in one of the two daughters, confirming the familial aspect of the disease.<br />Conclusion: The case described here illustrates the advantage of biomicroscopy in establishing the diagnosis and the usefulness of questioning the patient further to disclose family history. Imagery studies complement the examination to eliminate other causes for the decrease in vision. Some recently published data suggest an advantage to including at least the search for a microscopic or macroscopic hematuria during the assessment.

Details

Language :
French
ISSN :
1773-0597
Volume :
29
Issue :
4
Database :
MEDLINE
Journal :
Journal francais d'ophtalmologie
Publication Type :
Academic Journal
Accession number :
16885799
Full Text :
https://doi.org/10.1016/s0181-5512(06)77706-3