Coloboma and various ocular abnormalities have been described in
CHARGE syndrome, although the severity of
visual impairment varies from case to case. We conducted a multicenter study to clarify the ophthalmic features of patients with molecularly confirmed
CHARGE syndrome. Thirty-eight eyes in 19 patients with
CHARGE syndrome and confirmed CHD7 mutations treated at four centers were retrospectively studied. Colobomata affected the posterior segment of 35 eyes in 18 patients. Both retinochoroidal and optic disk colobomata were bilaterally observed in 15 patients and unilaterally observed in 3 patients. The
coloboma involved the macula totally or partially in 21 eyes of 13 patients. We confirmed that bilateral large retinochoroidal colobomata represents a typical ophthalmic feature of
CHARGE syndrome in patients with confirmed CHD7 mutations; however, even eyes with large colobomata can form maculas. The anatomical severity of the eye defect was graded according to the presence of colobomata, macula defect, and
microphthalmos. A comparison of the severity in one eye with that in the other eye revealed a low-to-moderate degree of agreement between the two eyes, reflecting the general
facial asymmetry of patients with
CHARGE syndrome. The location of
protein truncation and the anatomical severity of the eyes were significantly correlated. We suggested that the early diagnosis of
retinal morphology and function may be beneficial to patients, since such attention may determine whether treatment for
amblyopia, such as optical correction and patching, will be effective in facilitating the visual potential or whether care for poor vision will be needed.