Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.
Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.
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DOI：
10.1016/j.ajoc.2018.03.015
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发表时间：
2018-06
影响因子：
--
通讯作者：
Yang P
中科院分区：
文献类型：
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作者：
Gale MJ;Titus HE;Harman GA;Alabduljalil T;Dennis A;Wilson JL;Koeller DM;Finanger E;Blasco PA;Chiang PW;Karr DJ;Yang P
我们提出的第一个详细的眼科描述的儿童赫斯莫特尔-范德AA综合征(HVDAS)，包括纵向随访和分析。经过广泛的检查，一名患有视觉行为不良、低张力性脑瘫、智力残疾和全球发育迟缓的幼儿被发现存在ADNP基因的杂合子新突变，并被诊断为HVDAS。眼科表现为进行性眼球震颤、黄斑色素斑点、轻度黄斑中心凹发育不良伴异常的黄斑板层、持续性视杆功能障碍伴电阴性波形、进行性视锥变性。众所周知，HVDAS患者由于屈光或皮质损害而有异常的视觉行为。然而，据我们所知，我们提出了与视网膜发育不良和退化有关的第一个描述。因此，应对HVDAS患者进行眼部遗传学评估，并对伴有眼球震颤、视杆和视锥功能障碍且在光学相干断层扫描上相对缺乏严重结构变性的全球发育迟缓的幼儿进行鉴别诊断。
We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis. After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration. Patients with HVDAS are known to have abnormal visual behavior due to refractive or cortical impairment. However, we present the first description, to our knowledge, of an association with retinal mal-development and degeneration. Thus, patients with HVDAS should be referred for ophthalmic genetics evaluation, and HVDAS should be on the differential diagnosis for young children with global developmental delay who present with nystagmus, rod and cone dysfunction with electronegative waveform, and relative lack of severe structural degeneration on optical coherence tomography.