Wimplinger et al. 2006 reported a female, born to healthy nonconsanguineous parents after an uneventful pregnancy, found to have bilateral microphthalmia and sclerocornea but no erythematous skin lesions. She had a de novo HCCS nonsense variant (c.589C > T; p.(R197*)) that was also reported in an additional case with both MLS and histiocytoid CM (van Rahden et al. 2014). Around 1 yr of age she was reported to have developed “idiopathic VT” (Wimplinger et al. 2006). The gene discussed is HCCS; the disease is microphthalmia.