Case presentation The proband was delivered by cesarean section at full term (week 39) due to fetal position with no complications. Growth and development were normal thereafter (weight = 5970 g, length = 61 cm, head circumference = 40.5 cm at four months). The pediatrician discovered a tiny jugular hemangioma at the age of six months. The baby had recovered from multiple bouts of acute bronchitis that had worsened over time. She was referred to an ophthalmologist at the age of one year because her parents detected photophobia (squinting) and random hitting of objects.
The specialist suspected macular degeneration and discovered right-eye convergent concurrent strabismus. The infant had acute Hemophilus influenza-positive pneumonia at the age of one year. Genetic analysis was suggested at the age of 22 months.