Ocular manifestations of Donohue's syndrome

Donohue's syndrome, also known as Leprechaunism, is a rare autosomal recessive disease that manifests at birth with symptoms of endocrine dysfunction. Metabolic characteristics of the disease include postprandial hyperglycemia, fasting hypoglycemia, insulin resistance, hyperinsulinemia, and failure to thrive. The physical features most often associated with this condition include hypertrichosis, pachyderma, acanthosis nigricans, prominent genitalia, and elfin-like facial characteristics of prominent eyes, wide nostrils, thick lips, and large, low-set ears. Not only is this syndrome rare, but it often results in infant and early childhood mortality. The literature regarding ocular manifestations is limited.

We present a case of a 29-year-old male with Donohue's syndrome and significant ocular findings including a subluxated mature cataract, retinal detachment, high myopia, and optic atrophy.

These ocular sequelae are discussed with regard to the noted endocrine dysfunction and its effects on tissue development and growth.