A Patient with a Rare Chromosome Deletion Presents with Evidence of Spontaneous Resolution of Primary Congenital Glaucoma - Special Issue

Background: Deletions of chromosome 6q25 are very rare. Patients with these deletions present with variable characteristics depending on the location, size and break points of the deletion. In the literature it has been associated with developmental delays, brain abnormalities, hearing impairments, as well as other variable anomalies. There have been ocular abnormalities reported including retinal pigment irregularities and strabismus. Depending on their impairments, these patients can have a normal life expectancy. To our knowledge there have been no reports of congenital glaucoma with this chromosome deletion. Case Report: A 19 month old Hispanic male was referred to our clinic by his infant development teacher, who noticed that he was not visually engaged during therapy. He was born with a rare chromosome deletion of 6q25. He is severely developmentally delayed in all areas. He also has absence seizures for which he is prescribed Keppra and Phenobarbital. He had a previous eye examination at 3 weeks of age. In reviewing those records, he presented with a chief complaint of watery eyes OU. He was diagnosed with having blond fundus with all findings being within normal limits. The plan was to follow up in 6 weeks. The parents elected not to return for their 6 week appointment, due to dissatisfaction with the previous visit. His examination at our clinic reveled large cornea’s OU, restricted visual field OS worse than OD, obvious preference for use of his right eye, HaabStriae OS>OD, and cup to disc ratios of 0.80/0.80 OD, 0.95/0.95 OS. IOP measured by Tonopen was 18 mmHg OD and 13 mmHg OS. The patient was referred for evaluation and treatment with a pediatric ophthalmologist. Conclusion: To the best of our knowledge this is the first case that has been reported of congenital glaucoma in the presence of this rare deletion. The initial symptoms of epiphora, which can be a sign of congenital glaucoma, were not addressed in this patient’s first eye examination. While this case was an atypical presentation of congenital glaucoma, with normal IOP, there are indications that the IOP was previously elevated, indicating possible resolution of condition.