Purpose: To report a rare case of congenital glaucoma in a patient with CHARGE syndrome, present gonioscopic photographs, and explore mechanisms of disease that may account for this association. Patients and Methods: We describe a...
morePurpose: To report a rare case of congenital glaucoma in a patient with CHARGE syndrome, present gonioscopic photographs, and explore mechanisms of disease that may account for this association. Patients and Methods: We describe a 35-week-old girl with previously diagnosed CHARGE syndrome who presented with cor-neal edema, buphthalmos, and elevated intraocular pressure in the left eye. She was subsequently diagnosed with congenital glaucoma and started on topical and oral therapy. Results: Examination under anesthesia confirmed the above findings as well as bilateral abnormal angles with an anterior iris insertion at the level of the posterior trabecular meshwork, prominent iris vasculature and stromal strands, and nonvisible scleral spur and ciliary body bands. Trabeculotomy and trabeculectomy were performed in the left eye with a poor outcome. CHARGE syndrome is a complex neurocristopathy, and we propose that the abnormal angle findings and associated asymmetric glaucoma in our patient share a common mechanism of neural crest cell dysfunction. Conclusions: CHARGE syndrome can be associated with congenital glaucoma and we emphasize the importance of a thorough ophthalmic examination to detect glaucoma with surgical management as deemed appropriate. C HARGE syndrome is a rare genetic condition associated with numerous systemic manifestations. Clinically , CHARGE syndrome includes coloboma, heart defects, choanal atresia, retardation of growth and development , genito-urinary malformations, and ear abnormalities. Although several ocular phenotypes such as coloboma have been described frequently in association with CHARGE syndrome, congenital glaucoma, to the best of our knowledge, has only been described twice in these patients. We report a 35-week-old girl with corneal edema and enlargement, elevated intraocular pressure (IOP) and buphthalmos leading to a diagnosis of congenital glaucoma in addition to bilateral asymmetric optic nerve colobomas. In addition, our patient demonstrated abnormal angle features that differ from those seen in isolated primary congenital glaucoma. We thus report only the third case of congenital glaucoma in CHARGE syndrome and present the first gonioscopic photographs in these patients. We hypothesize that aberrant neural crest cell function underlies the association between CHARGE syndrome and developmental glaucoma in our patient. By contributing to the knowledge of mechanisms of disease in patients with CHARGE syndrome and congenital glaucoma, we hope that early diagnosis and intervention can be offered to prevent irreversible vision loss in these patients. CASE REPORT A 35-week-old white female with CHARGE syndrome presented for ophthalmic assessment after her parents had identified left corneal clouding, apparent globe enlargement, and tearing from the left eye. Her medical history included a full-term birth following an uneventful pregnancy. Her parents were non-consanguineous and there was no family history of CHARGE syndrome or congenital glaucoma. CHARGE syndrome had initially been suspected when, shortly after delivery, she had been found to have bilateral choanal atresia that required endoscopic repair. An echocardiogram ordered after she had experienced episodes of supraventricular tachycardia had revealed 2 atrial septal defects. Evaluation at that time had revealed the presence of bilateral optic nerve colobomas. Imaging of the temporal bones and internal auditory canals had revealed bilateral dysplastic cochleae and semicircular canals resulting in bilateral sensorineural hearing loss. Array comparative genomic hybridization had been normal. Taken together, the clinical findings in this patient had met FIGURE 1. Anterior segment examination with retroillumination of the left eye in a patient with CHARGE syndrome. An enlarged corneal diameter is evident along with extensive Haab's striae. Figure 1 can viewed in color online at
