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Table 1 Summary of ocular and systemic findings in patients with Peters Anomaly Type 1 and 2, Peters Plus Syndrome, and Our Patient

From: Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report

 

Peters Anomaly

Type 1

Peters Anomaly

Type 2

Peters Plus Syndrome

With B3GLCT gene mutations a

Our Patient

Ocular Findings

 Central corneal clouding

+

+

+

+

 Iris-corneal adhesion

+

+

+

+

 Lens-corneal adhesion

–

+

+

–

 Cataract

possible

possible

possible

+

 Glaucoma

possible

possible

possible

possible

 Chorioretinal lesions

–

–

rareb

+

Systemic Findings

 Short limbs with broad distal extremities

–

–

+

+

 Cleft Palate

–

–

+

+

 Characteristic facial features

–

–

+

+

 Developmental delay/Intellectual disabilities

–

–

+

+

 Heart Defects

–

–

possible

+c

 Genitourinary

–

–

possible

–

 Hearing

–

–

possible

–

 Brain abnormalities

–

–

possible

–

  1. +Present; − Absent
  2. a All possible mutation including homozygous and compound heterozygous variants. Not necessairly the same point mutation as our patients
  3. bTwo independent reports in literature with no characterization of lesions
  4. c Pulmonary stenosis