Annals of medicine and surgery (2012) · 2025
A 30-year-old man with Bietti crystalline dystrophy:a rare case report from Syria.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Othman Abdulrahman Ahmad, Othman Lama Ahmad, Shaban Rema Ahmad, Marzouk Zeina Zakarya, Almohammad Taha, Sadeq Diaa Abulhameed, Al Hasan Salem Ahmad, Al-Aboud Ahmed Aboud, Kfri Mohammed Nour, Albostani Mohamad Yazan Mohamad Alshehni, Sleiay Bilal
Аннотация
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.
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.