Ophthalmic features of CHARGE syndrome with CHD7 mutations.
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.
Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.
Sachiko
S
Nishina
Rika
R
Kosaki
Tatsuhiko
T
Yagihashi
Noriyuki
N
Azuma
Nobuhiko
N
Okamoto
Yoshikazu
Y
Hatsukawa
Kenji
K
Kurosawa
Takahiro
T
Yamane
Seiji
S
Mizuno
Kinichi
K
Tsuzuki
Kenjiro
K
Kosaki
D000293:Adolescent; D000328:Adult; D058747:CHARGE Syndrome / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000235:genetics / Q000473:pathology*; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence
D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human