Taken overall, the cross-species association with human cataract, predicted enzymatic dysfunction, and relatively strong expression in the mouse lens (Fig. 4) supports Abhd12 as a credible candidate gene for Em and suggests that available Em/J mice may serve as an animal model for the cataract associated with human PHARC syndrome. The gene discussed is ABHD12; the disease is Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract.