Case 3
The 10year-old elder sister of the proband was also evaluated for GAPO
features. Just like the proband, she was observed to have all the
phenotypic features of this syndrome and reduced eyelashes
(Figure 2C1-4 ). The intraoral examination also revealed
pseudoanodontia, and her height (120cm) and weight (20kg) were below the
third centile for her age. She had no developmental delay, and her
mental status was normal. Her visual acuity was 6/6 in both the eyes,
and IOP was 14mmHg and 16mmHg for the RE and LE, respectively. Her
corneae were clear, and gonioscopy revealed wide open angles without any
abnormality. Her optic nerves were found to be normal.
Table 1 shows the ophthalmic features of the three siblings
with GAPO syndrome. None of the other family members had any features of
GAPO or glaucoma.