McMain Karen, Blake Kim, Smith Isabel, Johnson Judy, Wood Ellen, Tremblay Francois, Robitaille Johane
Clinical Vision Science, Dalhousie University, Halifax, Nova Scotia, Canada.
J AAPOS. 2008 Oct;12(5):460-5. doi: 10.1016/j.jaapos.2008.02.009. Epub 2008 May 2.
To detail the presence and severity of ocular and cranial nerve abnormalities found in individuals with CHARGE syndrome in a distinct geographic area.
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.
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.
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.
详细阐述在一个特定地理区域患有CHARGE综合征的个体中发现的眼部和颅神经异常的存在情况及严重程度。
对从加拿大数据库中识别出的9名来自加拿大滨海地区的CHARGE综合征患者进行前瞻性检查。通过眼科和神经学评估来确定与功能性视力缺陷相关的结构和感觉缺陷。
与当前诊断标准和文献一致，缺损是主要的眼科表现。这些通常是累及视神经的双侧脉络膜视网膜缺损。所有受试者均患有双侧重度感音神经性耳聋（第八颅神经），9名患者中有8名（89%）有面神经（第七颅神经）受累（9名中有7名单侧受累；9名中有1名双侧受累）。该组参与者特有的发现是，9名患者中有8名（89%）存在屈光参差，18只眼中有13只（72%）存在重度近视散光，9名参与者中有3名（33%）内收时上转受限。相关发现包括斜视、白内障、小角膜、角膜病变、葡萄肿、立体视降低、视野上部缺损和视力下降。
存在缺损加上另一个CHARGE特征值得进一步研究，包括对CHD7基因进行基因筛查。早期识别和处理感觉问题（视觉、听觉和前庭）对于确保最佳的心理运动和认知发育至关重要。
