The spectrum of peroxisomal disorders is wide and comprises individuals that die in the first year of life, as well as people with sensorineural hearing loss, retinal dystrophy and amelogenesis imperfecta. In this article, we describe three patients; two diagnosed with Heimler syndrome and a third one with a mild‐intermediate phenotype. We arrived at these diagnoses by conducting complete ophthalmic (National Eye Institute), auditory (National Institute of Deafness and Other Communication Disorders), and dental (National Institute of Dental and Craniofacial Research) evaluations, as well as laboratory and genetic testing. Retinal degeneration with macular cystic changes, amelogenesis imperfecta, and sensorineural hearing loss were features shared by the three patients. Patients A and C had pathogenic variants in PEX1 and Patient B, in PEX6. Besides analyzing these cases, we review the literature regarding mild peroxisomal disorders, their pathophysiology, genetics, differential diagnosis, diagnostic methods, and management. We suggest that peroxisomal disorders are considered in every child with sensorineural hearing loss and retinal degeneration. These patients should have a dental evaluation to rule out amelogenesis imperfecta as well as audiologic examination and laboratory testing including peroxisomal biomarkers and genetic testing. Appropriate diagnosis can lead to better genetic counseling and management of the associated comorbidities.

中文翻译：

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过氧化物酶体疾病谱和海姆勒综合征：深度表型分析和文献回顾。

过氧化物酶体疾病的范围很广，包括在生命第一年死亡的个体，以及患有感觉神经性听力损失、视网膜营养不良和牙釉质发育不全的人。在本文中，我们描述了三名患者；两名被诊断患有海姆勒综合征，第三名被诊断为轻度中度表型。我们通过进行完整的眼科（国家眼科研究所）、听觉（国家耳聋和其他交流障碍研究所）和牙科（国家牙科和颅面研究所）评估以及实验室和基因检测来得出这些诊断。视网膜变性伴黄斑囊性改变、牙釉质发育不全和感觉神经性听力损失是三名患者共有的特征。患者 A 和 C 在PEX1中有致病性变异和患者 B，在PEX6中。除了分析这些病例外，我们还回顾了有关轻度过氧化物酶体疾病、其病理生理学、遗传学、鉴别诊断、诊断方法和管理的文献。我们建议每个患有感觉神经性听力损失和视网膜变性的儿童都考虑过氧化物酶体疾病。这些患者应进行牙科评估以排除牙釉质发育不全以及听力学检查和实验室检测，包括过氧化物酶体生物标志物和基因检测。适当的诊断可以导致更好的遗传咨询和相关合并症的管理。