'Cone dystrophy with supranormal rod response' in children
'Cone dystrophy with supranormal rod response' in children
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DOI：
10.1136/bjophthalmol-2011-300271
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发表时间：
2012-03-01
影响因子：
4.1
通讯作者：
Alkuraya, Fowzan S.
中科院分区：
文献类型：
--
作者：
Khan, Arif O.;Alrashed, May;Alkuraya, Fowzan S.
目的描述儿童视锥细胞营养不良伴异常视杆反应的临床表现，这是一种有别于隐性KCNV2突变的视网膜疾病。3例有类似的头位异常伴摇头和眼球震颤，另6例表现为婴儿眼球震颤(无异常头位或摇头)、可疑先天性青光眼(伴有眼球震颤)、间歇性外斜视、V型内斜视、共同性内斜视或仅有近视力困难(阅读)。只有两个孩子有临床上明显的视网膜变化(黄斑变色)，只有两个孩子有近视睫状肌麻痹屈光不正(患有婴儿眼球震颤和青光眼疑似患者，实际上患有巨大角膜)。除视锥细胞营养不良外，ERG还显示暗视反应延迟，对明亮闪光的暗视b波反应超常(6例)、高度正常(2例)或正常(1例)。只有一个ERG(具有超常反应)对暗视闪光没有显示出宽广的a波谷反应。对于所有患者，KCNV2测序发现了三个纯合子隐性突变之一(一个先前报道的(p.E143X)，两个新的(p.Y53X，p.E80D))。3例出现头位异常、摇头、眼球震颤的患儿和1例出现小儿期眼球震颤的患儿，均获得数年随访，其中消失2例或减少2例。结论临床表现各不相同，以头位异常、摇头、眼球震颤最常见，随时间逐渐改善。ERG表现对KCNV2突变具有特征性和特异性，但不一定包括在标准ERG条件下超常的暗视b波闪光反应。
Aim To describe the initial clinical presentation of children with 'cone dystrophy with supranormal rod response,' a distinct retinal disorder from recessive KCNV2 mutations.Methods Retrospective case series.Results Nine children (seven families) initially examined from 2 to 8 years of age were identified. Three had a similar initial presentation of abnormal head position with head shaking and nystagmus, while the other six presented with either infantile nystagmus (without abnormal head position or head shaking), suspected congenital glaucoma (with associated nystagmus), intermittent exotropia, V-pattern esotropia, comitant esotropia or difficulty with near vision only (reading). Only two children had clinically evident retinal changes (macular discoloration), and only two had a myopic cycloplegic refraction (the child with infantile nystagmus and the glaucoma suspect who actually had megalocornea). In addition to cone dystrophy, ERGs showed delayed scotopic responses with supranormal (six), high normal (two) or normal (one) scotopic b-wave responses to bright flash. Only one ERG (with a supranormal response) did not show a broad a-wave trough response to scotopic flash. For all patients, KCNV2 sequencing revealed one of three homozygous recessive mutations (one previously reported (p.E143X), two novel (p.Y53X, p.E80D)). The three children who presented with an abnormal head position, head shaking and nystagmus and the child who presented with infantile nystagmus had several years' follow-up, during which these findings resolved (two) or decreased (two).Conclusions Initial clinical presentation varied, the most common presentation being abnormal head position, head shaking and nystagmus that improved with time. ERG findings are characteristic and specific for KCNV2 mutations but do not necessarily include a scotopic b-wave flash response that is supranormal under standard ERG conditions.