The authors present the findings of a retrospective case-control observational study on increased microvascular disease in individuals with Alport syndrome recruited over a 21-year period. They recruited 28 males and 28 females with X-linked Alport syndrome (XLAS) and eight men and five women with autosomal recessive Alport syndrome (ARAS). None of the participants had diabetes. At recruitment clinical data were noted, and genetic testing and retinal photography were undertaken. All retinal photographs were graded for hypertensive microvascular retinopathy using the Wong and Mitchell hypertensive retinopathy grading scheme. The retinal arteriolar and venular caliber were measured using a standardised semi-automated computer imaging program at the Center for Eye Research Australia. In XLAS, microvascular retinopathy was more common in males than the controls. Females with XLAS were also more likely to have microvascular retinopathy than the controls. The microvascular changes were mainly generalised, with focal arteriolar narrowing, arteriovenous nicking and silver wiring whereas no control subject had silver wiring, haemorrhages or exudates. In the 13 individuals with ARAS, subjects had more microvascular retinopathy and were more likely to have moderate retinopathy than controls. This study is limited with retinal images collected over years from varied locations and unavailability of subjects’ BP readings and antihypertensive medications. BP readings which could have explained the retinal microvascular changes. However, the study can be valid in the follow-up of patients with Alport syndrome

Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study.
Smith J, Colville D, Lyttle N, et al.
OPHTHALMIC GENETICS
2019;40:129-34.
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Patty Mopamboli Mboli

Mzuzu Central Hospital, Mzuzu, Malawi.

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