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P. Bitoun, E. Pipiras, V. Abadie, J. Le Bidois, B. Benzacken; Micro-Anophthalmos Is Associated With C.H.A.R.G.E.Syndrome. Invest. Ophthalmol. Vis. Sci. 2008;49(13):446.
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C.H.A.R.G.E. syndrome associates multiple malformations: Coloboma, Heart, choanal Atresia, Retardation of growth / development, Genital, and Ear . This set of multiple congenital anomalies is rare and prognosis remains poor except rare patients with normal development. Required diagnostic features of CHARGE syndrome are now consensually accepted: coloboma , choanal , and ear semicircular canal anomaly. We present the issue of eye malformations in CHARGE syndrome and discuss the findings and follow up of micro-anophthalmos
Authors present a patient diagnosed at birth with bilateral colobomatous micro-anophthalmos,partial atrioventricular canal, cerebellar vermis hypoplasia with enlarged 4th ventricule, bilateral cryptorchidism and micropenis, and semi circular canal anomaly with olfactory bulb hypoplasia seen on MRI . He was born at term with BW 3415 g; BH 50 cm and OFC 35,5cm
During the first year, microphthalmos developped asymmetrically with functional vision at right. The cardiac anomaly was complicated by severe right pulmonary veins stenosis and subsequent pulmonary hypertension. His EEG and Brain Auditory Evoked Response was normal as well as IGF1 levels.At 18 months right palpebral fissure is 19 and left 12 mm long with the left eye mostly shut. He walks holding on, has normal growth: weight 9,2 kg (20 %ile) Height 78 cm (50%ile) and OFC 45,5cm (45%ile) but has little speech.Eye malformations in CHARGE syndrome are often reported as iris coloboma but range up to clinical anophthalmia. Microphthalmos has been reported in 21/50 (42%) of patients with CHARGE syndrome and are more frequent than in the OAV or VATER spectrum. The CHD7 gene (chromodomain helicase DNA-binding protein7) found mutated in 70% of CHARGE syndrome patients is involved with ocular morphogenesis at the optic placode developmental stage, it is expressed in neural crest and in the neural retina.
CHD7 testing should be included in anophthalmia patients, especially if they have semi-circular canal anomaly and choanal atresia but atypical patients with mutations have been described without hallmark features.
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