An Australian Family With Macular Dystrophy Linked to Autosomal Recessive Alopecia Universalis

In 2001, a case report described a 28-year-old Australian landscape gardener with autosomal recessive alopecia universalis and macular dystrophy, conditions not previously linked. The patient presented with visual problems and hair loss involving the entire head. Examination revealed bilateral, symmetrical, atrophic maculae and a best corrected visual acuity of 6/36 in both eyes, which improved to 6/12 in the right eye with a pinhole. The patient's spectacle correction was −4.00 sphere for the right eye and −3.50 sphere for the left. This case was significant as the gene responsible for this form of alopecia, the human hairless gene, had been identified on chromosome 8p12-22, but no retinal or macular associated genes had been described at this locus at the time of the report.