Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome

This is a rare association of EFEMP1 and COL11A1 sequence variants in a JOAG patient with STL. The study also reiterates the association of JOAG with EFEMP1, which should be looked for, especially in families with autosomal dominant JOAG.