Yaskanich Ashley H, Patel Ami, Leys Monique
Department of Ophthalmology and Visual Sciences, West Virginia University, Morgantown, WV 26506, USA.
Children (Basel). 2025 Apr 26;12(5):560. doi: 10.3390/children12050560.
mutations are responsible for a large portion of microcephaly with or without chorioretinopathy, lymphedema or impaired intellectual development (MCLMR). : This report describes longitudinal ophthalmological management of an 8-year-old male pediatric patient presenting with MCLMR diagnosed in infancy and associated with a novel, de novo mutation. : The patient presented with ophthalmological features of low visual acuity and chorioretinal atrophy and later developed bilateral retinal detachments. Syndromic features included microcephaly and developmental delay. Scleral buckling and vitrectomy were ultimately performed in both eyes, with a period of conservative management in the interim. Postoperative visual acuity was preserved in the right eye, although poor in the left eye. The patient received low-vision rehabilitation services and was able to participate in school and extracurricular activities. : Early recognition and close monitoring of ocular and systemic manifestations of mutations are important to optimize visual rehabilitation efforts.
突变是导致大部分伴有或不伴有脉络膜视网膜病变、淋巴水肿或智力发育受损（MCLMR）的小头畸形的原因。本报告描述了一名8岁男性儿科患者的纵向眼科管理情况，该患者在婴儿期被诊断为MCLMR，并与一种新的、从头发生的突变相关。该患者表现出视力低下和脉络膜视网膜萎缩的眼科特征，后来发展为双侧视网膜脱离。综合征特征包括小头畸形和发育迟缓。最终对双眼进行了巩膜扣带术和玻璃体切除术，在此期间进行了一段时间的保守治疗。术后右眼视力得以保留，尽管左眼视力较差。该患者接受了低视力康复服务，并能够参加学校和课外活动。对突变的眼部和全身表现进行早期识别和密切监测对于优化视力康复工作很重要。
