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HEREDITARY MONOGENIC DISEASES

           

Peters plus syndrome

Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. The most common anterior chamber defect is Peters’ anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Cataracts and glaucoma are common. Developmental delay is observed in about 80% of children; intellectual disability can range from mild to severe.

Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

The diagnosis of Peters plus syndrome is a clinical diagnosis that can be confirmed by identification of biallelic B3GLCT pathogenic variants on molecular genetic testing.

Along with the treatment of glaucoma and cataracts, you must perform a full keratoplasty due to corneal involvement.

GENE OR REGION STUDIED


  • B3GALTL