An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis

Abstract

A 28 year old landscape gardener presented to the Lions Eye Institute, Perth, with visual problems and a request for assessment. On examination, it was noted that she had marked bilateral, symmetrical, atrophic maculae (Fig 1). In addition, she had marked hair thinning and loss involving the entire head. Her best corrected visual acuity was recorded as 6/36 in both eyes, with the right eye improving to 6/12 with pinhole. She wore a spectacle correction of −4.00 sphere right and −3.50 sphere left.