Anant Bajaj Retina Institute, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Ophthalmic Pathology Laboratory, Prof. Krothapalli Ravindranath Ophthalmic Research Biorepository (KR-ORBR), Prof. Brien Holden Eye Research Centre, LVPEI Hyderabad, Hyderabad, Telangana, India.
Indian J Ophthalmol. 2023 Oct;71(10):3424-3425. doi: 10.4103/IJO.IJO_996_23.
Gaucher disease is a rare genetic disorder caused by a deficiency in the enzyme glucocerebrosidase, which impairs the body's ability to break down certain fats. This leads to the accumulation of glucosyl sphingosine and glucosyl ceramide in the liver, spleen, and bone marrow. Gaucher disease has two major types: nonneuropathic (Type 1) and neuropathic (Type 2 and Type 3). Gaucher disease can have various ophthalmologic manifestations, particularly in Type 3, including posterior segment abnormalities, such as vitreous opacities, condensations, and/or preretinal white dots. We present a case of a patient with Gaucher disease Type 3 who had severe bilateral vitreous and extensive retinal deposits, leading to challenges during surgery.
This video reports surgical outcomes for an uncommon ophthalmologic manifestation in a patient with Gaucher disease Type 3. We focus on the challenges and results of surgery for severe bilateral vitreous and extensive retinal deposits.
A 16-year-old female patient with a history of Gaucher's disease since birth presented with a one-year history of blurred vision in both eyes. Her best-corrected visual acuity was 20/200 in the right eye and 20/100 in the left eye, as measured by Snellen's chart. Intraocular pressure was normal in both eyes, and anterior segment examinations were unremarkable. However, fundus evaluation revealed extensive vitreous deposits that obscured the details of the fundus. Additionally, an epiretinal membrane was observed over the macula in both eyes. Optical coherence tomography (OCT) confirmed the presence of deposits in the vitreous cavity and on the surface of the retina. The patient underwent pars plana vitrectomy with epiretinal membrane removal. A transconjunctival 23-G pars plana vitrectomy was performed to the extent possible. Multiple instruments were used to remove the fluffy vitreous deposits, as they were extremely adherent to the underlying surface of the retina, and brilliant blue dye was used to stain the internal limiting membrane. The epiretinal membrane and internal limiting membrane were removed from the macular area, and the entire cassette fluid was sent for histopathological examination to identify Gaucher cells. At one week postoperative, the patient's visual acuity improved to 20/125 in the right eye, and the fundus picture showed a cleared macular area. OCT showed a reduction in deposits over the retina. The histopathological examination revealed crumpled, barrel-like cytoplasm with an oval nucleus in a hemorrhagic background, suggestive of Gaucher cells.
Early detection and treatment of ocular manifestations of Gaucher's disease are important to prevent permanent damage to vision. An ophthalmological assessment involving a dilated fundus examination and optical coherence tomography can facilitate early diagnosis and follow-up of ocular manifestations. Timely surgery may be required to preserve functional vision in patients with severe ocular disease.
戈谢病是一种罕见的遗传性疾病，由葡糖脑苷脂酶缺乏引起，导致身体无法分解某些脂肪。这会导致葡萄糖鞘氨醇和葡萄糖神经酰胺在肝脏、脾脏和骨髓中积累。戈谢病有两种主要类型：非神经病变型（1 型）和神经病变型（2 型和 3 型）。戈谢病可能有各种眼部表现，特别是在 3 型中，包括后段异常，如玻璃体混浊、浓缩和/或视网膜前白色斑点。我们报告了一例戈谢病 3 型患者，其患有严重的双侧玻璃体和广泛的视网膜沉积物，导致手术期间存在挑战。
本视频报告了戈谢病 3 型患者一种罕见的眼部表现的手术结果。我们重点关注严重双侧玻璃体和广泛视网膜沉积物患者的手术挑战和结果。
一名 16 岁女性患者自出生起就患有戈谢病，她因双眼视力模糊就诊，病史已有一年。她右眼最佳矫正视力为 20/200，左眼为 20/100，这是通过 Snellen 图表测量的。双眼眼压正常，眼前节检查无异常。然而，眼底评估显示广泛的玻璃体沉积物，使眼底细节无法辨认。此外，双眼黄斑区可见视网膜内界膜。光学相干断层扫描（OCT）证实玻璃体腔和视网膜表面存在沉积物。患者接受了经睫状体平坦部 23-G 玻璃体切除术和视网膜内界膜切除术。进行了经结膜 23-G 经睫状体平坦部玻璃体切除术，尽可能达到最大范围。使用多种器械清除了非常黏附在视网膜下表面的绒毛状玻璃体沉积物，并使用亮蓝染料对内部界膜进行染色。黄斑区切除了视网膜内界膜和内部界膜，整个标本均送检行组织病理学检查以识别戈谢细胞。术后一周，患者右眼视力提高至 20/125，眼底图像显示黄斑区清晰。OCT 显示视网膜上的沉积物减少。组织病理学检查显示在出血背景下呈卷曲、桶状细胞质，伴椭圆形核，提示为戈谢细胞。
早期发现和治疗戈谢病的眼部表现对于防止视力永久损害非常重要。散瞳眼底检查和光学相干断层扫描的眼科评估有助于早期诊断和随访眼部表现。对于严重眼病患者，可能需要及时手术以保持视力功能。
