Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Mol Genet Metab. 2019 May;127(1):23-27. doi: 10.1016/j.ymgme.2019.02.002. Epub 2019 Feb 15.
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the gene GBA1, which encodes the lysosomal protein glucocerebrosidase. Patients with Gaucher disease generally have a variety of clinical manifestations ranging from visceral to neurological involvement and some develop ocular involvement. The most commonly affected organs include the spleen, liver, and bone. Moreover, patients often have hepatosplenomegaly, thrombocytopenia, anemia, and bone involvement related to deficient glucocerebrosidase and the subsequent accumulation of glucosylceramide and glucosylsphingosine in cells. A subset of patients develops neurological manifestations, including seizures, myoclonic epilepsy, and progressive neurodegeneration. Eye involvement tends to be less common and presents with diverse clinical findings. These rare and variable ocular manifestations, involving the vitreous, retina, cornea, uvea, conjunctiva and eye movements, can pose a diagnostic challenge for clinicians, especially those not familiar with the disorder. In this review, we explore the different ophthalmologic findings reported in patients with Gaucher disease, aiming to facilitate diagnosis and expedite treatment for patients presenting with ocular manifestations of this rare disorder.
戈谢病是一种常染色体隐性溶酶体贮积症，由 GBA1 基因突变引起，该基因编码溶酶体蛋白葡萄糖脑苷脂酶。戈谢病患者通常有多种临床表现，从内脏到神经受累，有些患者还会出现眼部受累。最常受累的器官包括脾脏、肝脏和骨骼。此外，患者常伴有肝脾肿大、血小板减少、贫血和与葡萄糖脑苷脂酶缺乏及随后葡萄糖鞘氨醇和葡萄糖神经酰胺在细胞内蓄积相关的骨骼受累。一部分患者会出现神经表现，包括癫痫发作、肌阵挛性癫痫和进行性神经退行性变。眼部受累往往较少见，表现出多种不同的临床表现。这些罕见和多变的眼部表现涉及玻璃体、视网膜、角膜、葡萄膜、结膜和眼球运动，可能对不熟悉该病的临床医生构成诊断挑战。在这篇综述中，我们探讨了戈谢病患者报告的不同眼科表现，旨在为出现这种罕见疾病眼部表现的患者提供更方便的诊断和更迅速的治疗。
