Developmental glaucoma with chromosomal abnormalities of 9p deletion and 13q duplication.

Report of a Case. The patient, born by cesarean delivery at 38 weeks’ gestation and weighing 3760 g, was the first child (male) of healthy parents. Bilateral polydactyly was observed at birth (Figure, A). At 2 months of age, he was admitted to another hospital and developmental glaucoma was suspected based on findings of enlarged corneal diameter, ocular hypertension, and bilateral abnormal optic discs. At age 4 months, he was affected by an incomplete type of the mucocutaneous lymph node syndrome (Kawasaki disease), and myoclonic epilepsy appeared in the same period. Hydronephrosis in the right kidney and bilateral retained testis were also found. However, there were no other systemic abnormalities including the face, nose, teeth, umbilicus, fingernails, or hearing. Brain magnetic resonance imaging showed hypoplasia of the corpus callosum and mild cerebral atrophy of the frontal lobes. At age 6 months, ophthalmological examination based on informed consent from his parents was conducted under general anesthesia and revealed features of developmental glaucoma (Table). The angle showed flat posterior insertion without iris abnormalities like hypoplastic changes. There were Haab striae but no embryotoxon or corneal edema in both corneas. The vertical cup to disc ratio was 0.95. The pupil, lens, retina, and vitreous appeared normal bilaterally. Trabeculotomy was performed in both eyes on the same day. At age 27 months (21 months after surgery), the examination under general anesthesia revealed that the intraocular pressure in both eyes remained within the reference range (Table). The patient’s mental development was arrested, although the height and weight were within the reference ranges of the growth curve. Together with G-band analysis, fluorescence in situ hybridization demonstrated that reciprocal translocation of the breaking point was 9p23 and 13q31, demonstrating partial monosomy 9p23-pter and partial trisomy 13q31qter (Figure, B). The karyotypes of the parents could not be examined under the circumstances.