Bayram-Suverza Mauricio, Torres-Navarro Karla Alejandra, Hernández-Vázquez Ángeles Yahel, Ramírez-Estudillo Juan Abel
Retina Department, Fundación Hospital de Nuestra Señora de La Luz, Mexico City 06030, Mexico.
Diagnostics (Basel). 2023 Aug 3;13(15):2588. doi: 10.3390/diagnostics13152588.
Microcephaly and chorioretinopathy are genetic disorders that are inherited in an autosomal recessive manner. The most frequent ocular manifestation is the presence of lacunar atrophy in the retina and choroid. The diagnosis of this condition can be challenging as several potential causes and related syndromes need to be ruled out. We present two cases of microcephaly and chorioretinopathy in Mexican patients, their clinical characterization, and discuss the differential diagnoses that should be considered. An 8-year-old girl was examined due to a history of decreased vision in both eyes. Fundus examination showed excavated, well-defined, sectorial, bilateral, and symmetrical areas of chorioretinal atrophy. An 18-year-old male had a history of poor vision since childhood. Previous ophthalmological examinations reported bilateral symmetric chorioretinal atrophy with pigment accumulation. Both patients had a prior diagnosis of microcephaly and language delay. Blood tests and a comprehensive systemic evaluation ruled out intrauterine infections. The electroretinogram showed decreased amplitude and increased implicit time in the photopic and scotopic responses. Genetic tests revealed mutations in the TUBGCP4 gene, leading to a diagnosis of microcephaly and chorioretinopathy. As observed in these cases, there was variability in retinal lesions. The presence of chorioretinal lacunae and genetic testing can help to correctly diagnose this disorder.
小头畸形和脉络膜视网膜病变是常染色体隐性遗传的基因疾病。最常见的眼部表现是视网膜和脉络膜出现腔隙性萎缩。由于需要排除多种潜在病因和相关综合征，这种病症的诊断颇具挑战性。我们呈现了两例墨西哥小头畸形和脉络膜视网膜病变患者的病例、其临床特征，并讨论了应考虑的鉴别诊断。一名8岁女孩因双眼视力下降病史接受检查。眼底检查显示双眼存在凹陷、边界清晰、扇形、双侧对称的脉络膜视网膜萎缩区域。一名18岁男性自幼视力不佳。此前的眼科检查报告显示双眼对称的脉络膜视网膜萎缩并伴有色素沉着。两名患者均先前被诊断为小头畸形和语言发育迟缓。血液检查和全面的系统评估排除了宫内感染。视网膜电图显示明视和暗视反应的振幅降低、潜伏时间延长。基因检测发现TUBGCP4基因突变，从而确诊为小头畸形和脉络膜视网膜病变。如这些病例所示，视网膜病变存在变异性。脉络膜视网膜腔隙的存在和基因检测有助于正确诊断这种疾病。
