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VITREOUS HEMORRHAGE IN TYPE 3 GAUCHER DISEASE: AN ANGIOGRAPHIC AND PATHOLOGIC ANALYSIS
Hong-Uyen Hua1,2, Arezu Haghighi1,2, Nick Shillingford3,4
1Department of Surgery, The Vision Center, Children's Hospital Los Angeles, Los Angeles, California.
Insights
This case report details vitreoretinal findings in a 12-year-old with Type 3 Gaucher disease (GD3). It highlights Gaucher cells in vitreous and the first reported hemorrhagic posterior vitreous detachment in GD3.
Area of Science:
- Ophthalmology
- Metabolic Disorders
- Genetics
Background:
- Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder.
- Type 3 Gaucher disease (GD3) presents with neurological involvement and systemic manifestations.
- Ocular involvement in GD3 is uncommon, with limited documentation of vitreoretinal pathology.
Observation:
- A 12-year-old female with diagnosed GD3 presented with bilateral vitreous deposits.
- Multimodal imaging revealed white vitreous opacities, blockage on fluorescein angiography, and artifacts on OCT angiography.
- The patient later developed a hemorrhagic posterior vitreous detachment (PVD) in the right eye.
Findings:
- Histopathologic examination of the vitreous sample confirmed the presence of Gaucher cells.
- This case represents the first documented instance of hemorrhagic PVD in Type 3 Gaucher disease.
- Advanced imaging techniques, including ultra-widefield angiography and OCT angiography, provided detailed insights into the vitreoretinal manifestations.
Implications:
- This case expands the understanding of ocular complications associated with Type 3 Gaucher disease.
- Early recognition and monitoring of vitreoretinal changes may be crucial for patients with GD3.
- Further research is warranted to elucidate the pathogenesis and management of ocular involvement in Gaucher disease.
Purpose:
To describe the case of a 12-year-old woman with vitreoretinal manifestations of Type 3 Gaucher disease.
Methods:
A retrospective case report including multimodal imaging and histologic examination of the vitreous.
Results:
A 12-year-old woman with a history of Gaucher disease Type 3 was referred to the ophthalmology service for evaluation of vitreous deposits in both eyes. Funduscopic examination was notable for white vitreous opacities in both eyes. Ultra-widefield fluorescein angiography demonstrated areas of blockage associated with the deposits and focal areas of leakage. Optical coherence tomography angiography showed shadow artifact without intrinsic flow at these sites. Three years after presentation, she developed a right hemorrhagic posterior vitreous detachment, requiring pars plana vitrectomy with scleral buckle. A vitreous sample was sent to pathology, which demonstrated Gaucher cells.
Conclusion:
Gaucher disease is a rare metabolic condition caused by an autosomal recessive deficiency of glucocerebrosidase. To the best of our knowledge, this is the first report of hemorrhagic posterior vitreous detachment in Type 3 Gaucher disease, including ultra-widefield imaging, optical coherence tomography angiography, and histopathology.
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