A 30-year-old man with Bietti crystalline dystrophy:a rare case report from Syria

Abstract

Introduction: Bietti crystalline dystrophy (BCD) is a rare, inherited eye disease that causes progressive damage to the back of the eye (chorioretinal atrophy), characterized by sparkling crystals in the cornea and retina.

Case presention: A 30-year-old man presented with gradual vision loss in both eyes. Fundus photography revealed retinal crystals and retinal pigment epithelium atrophy, consistent with BCD. Enhanced depth imaging optical coherence tomography confirmed retinal and choroidal abnormalities, supporting the diagnosis. Genetic testing was not performed due to financial constraints.

Clinical discussion: Subretinal rAAV2/8-hCYP4V2 gene therapy for BCD is safe and effective, but COVID-19 or AAV8 antibodies may hinder its efficacy. VFQ-25 correlates with visual acuity improvement. Hypertriglyceridemia and hypercholesterolemia were observed as potential side effects.

Conclusion: Health care professionals should be vigilant in recognizing rare eye diseases like BCD, even in uncommon regions. Further research is crucial to understand BCD, develop treatments, and improve the quality of life for affected individuals.

Keywords: Bietti crystalline dystrophy; fundus autofluorescence; optical coherence tomography; retinal pigment epithelium.

Figure 1.

His fundus photograph shows a 30-year-old man with night blindness (nyctalopia) and features consistent with BCD, including intraretinal crystals and RPE atrophy.

Figure 2.

EDI-OCT revealed disorganization of the RPE, photoreceptors, and choriocapillaris at the macula, except for a small central island of preserved structures. A peripapillary ring was also observed. BCD is a rare, inherited chorioretinal dystrophy characterized by sparkling crystals in the cornea and retina. BCD diagnosis in resource limited and geographically unexpected patient. The diagnosis of BCD relies heavily on multimodal imagingtechniques and genetic testing.