OUTER RETINAL TUBULATION IN BIETTI CRYSTALLINE DYSTROPHY ASSOCIATED WITH THE RETINAL PIGMENT EPITHELIUM ATROPHY

Author:

Wang Yusong12,Chen Jieqiong12345,Sun Junran12345,Li Tong12345,Yu Suqin12345,Gong Yuanyuan12345,Yu Yang12345,Wan Xiaoling12345,Jia Huixun12345,Wu Jihong678,Yuan Fei9,Shen Xi10,Wang Zhiliang11,Qiao Tong12,Wu Qiang13,Xu Yu14,Wang Zhaoyang15,Yang Chenhao16,Qu Jifang17,Chen Jianjun18,Sun Xiaodong12345ORCID,

Affiliation:

1. National Clinical Research Center for Ophthalmic Diseases, Shanghai, China;

2. Department of Ophthalmology, Shanghai General Hospital (Shanghai First People's Hospital), Shanghai Jiao Tong University School of Medicine, Shanghai, China;

3. National Clinical Research Center for Eye Diseases, Shanghai, China;

4. Shanghai Key Laboratory of Fundus Diseases, Shanghai, China;

5. Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China;

6. Eye Institute, Eye and ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China;

7. Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China;

8. Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, China;

9. Department of Ophthalmology, Zhongshan Hospital, Fudan University, Shanghai, China;

10. Department of Ophthalmology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China;

11. Department of Ophthalmology, Huashan Hospital, Fudan University, Shanghai, China;

12. Department of Ophthalmology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China;

13. Department of Ophthalmology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China;

14. Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China;

15. Department of Ophthalmology, Shanghai Tenth People's Hospital, School of Medicine, Tongji University, Shanghai, China;

16. Department of Ophthalmology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China;

17. Department of Ophthalmology, Shanghai Children's Medical Center, Shanghai Jiao Tong University, Shanghai, China; and

18. Department of Medical Genetics, School of Medicine, Tongji University, Shanghai, China.

Abstract

Purpose: To determine the prognostic value of outer retinal tubulation (ORT) in the eyes of a Chinese cohort with Bietti crystalline dystrophy (BCD). Methods: This retrospective, multicenter cohort study enrolled 42 patients with clinically and genetically diagnosed BCD. Eighty eyes with good-quality images of spectral domain optical coherence tomography were included. Demographic details and clinical data were collected. The characteristics of ORT, including prevalence, location, and morphologic characteristics were analyzed. Results: Forty-two patients with BCD harbored potentially CYP4V2 disease-causing mutations. The mutation spectrum comprised 17 unique variants, 9 of which were novel. Fifty-two of these 80 eyes demonstrated evidence of ORT. The incidence of ORT is significantly higher in Stage 2 than other stages (P < 0.001). ORT was mainly bilateral and located at the margin of the atrophic area of retinal pigment epithelium (RPE), and dynamically changed with the progressive RPE atrophy. The process of RPE atrophy was slower in eyes with ORT (P = 0.017), with significantly longer intact RPE width in Stage 3 (P = 0.024). Eyes with ORT had slower vision loss than eyes without ORT (P = 0.044). Conclusion: ORT may be a sign of the onset of RPE atrophy in early-stage BCD and may suggest less risk of rapid progression in late-stage BCD.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Ophthalmology,General Medicine

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