PURPOSE: To detail the presence and severity of ocular and cranial nerve abnormalities found in individuals with CHARGE syndrome in a distinct geographic area. METHODS: Nine individuals with CHARGE syndrome from Maritime Canada identified from a Canadian database were prospectively examined. Structural and sensorial defects associated with functional visual deficits were defined with ophthalmic and neurological evaluation. RESULTS: Consistent with current diagnostic criteria and the literature, colobomas were the major ophthalmic manifestation. These were typically bilateral chorioretinal colobomas involving the optic nerve. All subjects had bilateral severe sensorineural deafness (cranial nerve VIII), and 8 of 9 (89%) had facial nerve (cranial nerve VII) involvement (7 of 9 had unilateral involvement; 1 of 9 had bilateral involvement). Unique to this group of participants were the findings of anisometropia in 8 of the 9 (89%) patients, severe myopic astigmatism in 13 of the 18 eyes (72%), and limited elevation in adduction in 3 of 9 (33%) participants. Associated findings were strabismus, cataracts, microcornea, keratopathy, staphyloma, reduced stereopsis, superior visual field defects, and reduced visual acuity. CONCLUSIONS: The presence of coloboma plus another CHARGE feature warrants further investigation, including genetic screening for the CHD7 gene. Early recognition and management of sensory problems (visual, auditory, and vestibular) are crucial to ensure best psychomotor and cognitive development.
PURPOSE: To detail the presence and severity of ocular and cranial nerve abnormalities found in individuals with CHARGE syndrome in a distinct geographic area. METHODS: Nine individuals with CHARGE syndrome from Maritime Canada identified from a Canadian database were prospectively examined. Structural and sensorial defects associated with functional visual deficits were defined with ophthalmic and neurological evaluation. RESULTS: Consistent with current diagnostic criteria and the literature, colobomas were the major ophthalmic manifestation. These were typically bilateral chorioretinal colobomas involving the optic nerve. All subjects had bilateral severe sensorineural deafness (cranial nerve VIII), and 8 of 9 (89%) had facial nerve (cranial nerve VII) involvement (7 of 9 had unilateral involvement; 1 of 9 had bilateral involvement). Unique to this group of participants were the findings of anisometropia in 8 of the 9 (89%) patients, severe myopic astigmatism in 13 of the 18 eyes (72%), and limited elevation in adduction in 3 of 9 (33%) participants. Associated findings were strabismus, cataracts, microcornea, keratopathy, staphyloma, reduced stereopsis, superior visual field defects, and reduced visual acuity. CONCLUSIONS: The presence of coloboma plus another CHARGE feature warrants further investigation, including genetic screening for the CHD7 gene. Early recognition and management of sensory problems (visual, auditory, and vestibular) are crucial to ensure best psychomotor and cognitive development.
Authors: Young Bae Sohn; Jung Min Ko; Choong Ho Shin; Sei Won Yang; Jong-Hee Chae; Kyung-A Lee Journal: J Hum Genet Date: 2015-11-05 Impact factor: 3.172
Authors: Christa M de Geus; Rolien H Free; Berit M Verbist; Deborah A Sival; Kim D Blake; Linda C Meiners; Conny M A van Ravenswaaij-Arts Journal: Am J Med Genet C Semin Med Genet Date: 2017-11-23 Impact factor: 3.908