Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome
Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome
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DOI：
10.1016/j.ophtha.2003.11.007
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发表时间：
2004-07-01
期刊：
影响因子：
13.7
通讯作者：
Kalaydjieva, L
中科院分区：
文献类型：
--
作者：
Müllner-Eidenböck, A;Moser, E;Kalaydjieva, L
目的：为了确定先天性白内障面部畸形神经病变（CCFDN）综合征的遗传学验证组9 patients.Study设计：观察case series.Participants：9个受影响的男性个体的5个家系，年龄为1.3至16.8岁的眼科异常的性质和过程进行了检查。在一项正在进行的先天性白内障前瞻性研究中招募了4名患者;根据我们的回顾性数据，5名患者可被分配到CCFDN组。连锁和单倍型分析，神经系统检查，双侧白内障，眼轴长度，角膜直径，瞳孔直径和瞳孔反应，术中和术后并发症，眼睑变化，无晶状体矫正问题，屈光结果，结果：所有家庭均来自塞尔维亚东部，靠近罗马尼亚边境。8个受试个体在染色体18 q端粒区中为保守的祖先CCFDN单倍型纯合。所有患者均表现出外周脱髓鞘性神经病和不同程度的共济失调。在老年患者中，远端肌肉萎缩和面部畸形明显。早发性双侧先天性白内障合并小粉刺、小眼球和小瞳孔。所有患儿均有眼睑下垂综合征和假性下垂。角膜接触镜和人工晶状体引起的炎症反应增加。所有患者均有综合征相关性眼球震颤和先天性内斜视。远视力可被归类为严重至中度损害，而近视力更好（轻度至中度损害）。结论：早发性先天性白内障与microcomea，小眼球，和小瞳孔是必不可少的眼部特征的CCFDN综合征，是第一个可识别的迹象，在婴儿早期。儿科眼科医生对这种综合征的认识是很重要的，因为这些典型的发现，结合种族来源的信息，可能会导致非常早期的诊断，在一个年龄时的性质和严重程度的非眼科特征是不明显的。受影响的个人可能受益于仔细的眼科治疗和后续行动，以及从早期管理的神经问题和发育迟缓。受影响的家庭将受益于遗传咨询和预测性测试。(C)2004年，美国眼科学会。
Objective: To determine the nature and course of ophthalmologic abnormalities in congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome in a genetically verified group of 9 patients.Study Design: Observational case series.Participants: Nine affected male individuals of 5 pedigrees aged 1.3 to 16.8 years were examined. Four individuals were recruited during an ongoing prospective study of congenital cataracts; 5 individuals could be assigned to the CCFDN group on the basis of our retrospective data.Main Outcome Measures: Linkage and haplotype analysis, neurologic examinations, bilateral cataracts, axial length, corneal diameter, pupil diameter and pupillary reactions, intraoperative and postoperative complications, lid changes, aphakic correction problems, refractive results, and visual function.Results: All families originated from the eastern part of Serbia, close to the border with Romania. The 8 tested individuals were homozygous for the conserved ancestral CCFDN haplotype in the telomeric region of chromosome 18q. All patients showed a peripheral, demyelinating neuropathy and varying degrees of ataxia. In the older patients, muscular atrophy in distal muscles and facial dysmorphism was evident. Early-onset bilateral congenital cataracts associated with microcomea, microphthalmos, and micropupil could be found in all patients. All children had floppy eyelid syndrome and pseudoptosis. An increased inflammatory reaction to contact lenses and intraocular lenses could be documented in all. All patients had syndrome-associated nystagmus and congenital esotropia. Distant visual acuity could be classified as severe to moderate impairment, whereas near visual acuity was much better (mild to moderate impairment).Conclusions: Early-onset congenital cataracts associated with microcomea, microphthalmos, and micropupil are essential ocular features of the CCFDN syndrome and are the first recognizable signs during early infancy. Awareness of this syndrome by pediatric ophthalmologists is important, because these typical findings, combined with information on ethnic origin, may lead to very early diagnosis at an age when the nature and severity of nonophthalmologic features are not apparent. Affected individuals may benefit from careful ophthalmologic treatment and follow-up, as well as from early management of the neurologic problems and developmental delay. Affected families will benefit from genetic counseling and predictive testing. (C) 2004 by the American Academy of Ophthalmology.