BACKGROUND Peters Plus syndrome (MIM 261540) is a rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor abnormalities. Mutations in the B3GALTL gene encoding the β-1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. CASE PRESENTATION We report here a female patient with seve...

PURPOSE To identify novel mutation in the PAX6 (paired box gene 6) gene and characterize new clinical features of severe ocular malformation in a Chinese patient with Peters' anomaly. METHODS A 10-month-old male infant, who presented with corneal opacity and nystagmus, was referred to our pediatric clinic and underwent a complete general physical and ophthalmological examination, including an...

We report a case of corneal staphyloma histologically diagnosed as caused by Peters' anomaly. A 62-year-old male had a protruding opaque vascularized cornea that began to bulge from six months ago in the right eye. Since his right eye was blind and he wanted us to remove the eyeball for cosmetic improvement, we enucleated the affected eye. The enucleated tissue was fixed in formalin and embedde...

Peters' anomaly is characterized by a central corneal opacity with corresponding defects in the posterior stroma, Descemet's membrane, and endothelium. We present 2 cases that showed corneal opacity when examined by topical endoscopic imaging (TEI). Case 1 was a 20-day-old neonatal female who had a central corneal opacity in the left eye. TEI showed that the iris stroma was adhered toward the b...