Measurement and analysis of retinal nerve fiber layer thickness in chronic progressive external ophthalmoplegia and kearns-sayre syndrome_Chinese Journal of Ocular Fundus Diseases

Authors：

WuYuan , WuHailong , WangZhaoxia , 潘英姿 ,  晏晓明

Department of Ophthalmology, The First Hospital of Peking University, Beijing 100034, China;

Corresponding author：

晏晓明, Email: yanxiaoming7908@163.com

Keywords：

Ophthalmoplegia, chronic progressive external; Kearns-Sayre syndrome; Tomography, optical coherence

DOI：

10.3760/cma.j.issn.1005-1015.2015.04.009

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

Objective To determine the retinal nerve fiber layer thickness (RNFLT) of chronic progressive external ophthalmoplegia (CPEO) and kearns-sayre syndrome (KSS) patients using spectral-domain optical coherence tomography (SD-OCT) and to analyze the potential influence factors for RNFLT of these patients. Methods 18 CPEO and 4 KSS (CPEO with retinitis pigmentosa and cardiac block) patients, all were muscle biopsy confirmed, were included in this study. There were 7 males and 15 females, the average age was (29.09±13.40) years, the average onset age was (16.4±10.7) years and the average disease duration was (11.30±7.30) years. All the patients underwent SD-OCT examination for the left eye, the peripapillary RNFL thickness was measured using the Spectralis 3.45 mm circle scan protocol. 8 quadrants were scanned including superior temporal (ST), temporal upper (TU), temporal lower (TL), inferior temporal (IT), inferior nasal (IN), nasal lower (NL), nasal upper (NU) and superior nasal (SN). The relationship between RNFLT and onset time, disease duration was analyzed by Pearson correlation analysis. Results The average RNFLT of ST, TU, TL, IT, IN, NL, NU, SN in the 22 patients were (136.3±24.1), (85.4±25.7), (68.2±11.7), (128.2±28.7), (127.3±29.5), (66.7±16.8), (70.1±17.6) μm, respectively. The circumferential average RNFLT was (101.5±14.4) μm. There was no significant difference between the KSS group and CPEO group (P>0.05). The decrease of the circumferential RNFLT had no relationship with the onset age (r=-0.306, P=0.11), but a negative relationship with the disease course (r=-0.518, P=0.03). There were negative relationships between the disease course and RNFLT of 4 nasal quadrants (IN:r=-0.555, P=0.01, NL: r=-0.630, P=0.00, NU: r=-0.559, P=0.01, SN: r=-0.557, P=0.01). Conclusion There is no difference in RNFLT of patients with CPEO and KSS. There is a negative relation between RNFLT (especially RNFLT of 4 nasal quadrants) and disease course.

Citation： WuYuan, WuHailong, WangZhaoxia. Measurement and analysis of retinal nerve fiber layer thickness in chronic progressive external ophthalmoplegia and kearns-sayre syndrome. Chinese Journal of Ocular Fundus Diseases, 2015, 31(4): 348-351. doi: 10.3760/cma.j.issn.1005-1015.2015.04.009 Copy

1.	Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases[J]. AMA Arch Ophthalmol, 1958,60(2):280-289.
2.	Butler IJ, Gadoth N. Kearns-Sayre syndrome:a review of a multisystem disorder of children and young adults[J]. Arch Intern Med, 1976,136(11):1290-1293.
3.	López-Gallardo E, López-Pérez MJ, Montoya J,et al. CPEO and KSS differ in the percentage and location of the mtDNA deletion[J]. Mitochondrion, 2009,9(5):314-317.
4.	Kim JS, Kim CJ, Chi JG,et al. Chronic progressive external ophthalmoplegia (CPEO) with 'ragged red fibers'--a case report[J]. J Korean Med Sci, 1989,4(2): 91-96.
5.	王朝霞,袁云,高枫,等. 慢性进行性眼外肌瘫痪和Kearns-Sayre综合征的线粒体DNA突变分析[J]. 中华医学遗传学杂志, 2003,20(4):273-278.
6.	Barboni P, Carbonelli M, Savini G,et al. Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography[J]. Ophthalmology, 2010,117(3):623-627.
7.	Barboni P, Savini G, Valentino ML,et al. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy[J]. Ophthalmology, 2005,112(1):120-126.
8.	刘杏,凌运兰,骆荣江,等. 应用光学相干断层成像术测量正常人视网膜神经层厚度[J]. 中华眼科杂志, 2000,36(5):362-365.
9.	Schuman JS, Hee MR, Puliafito CA,et al. Quantification of nerve fiber layer thickness in normal and glaucomatous eyes using optical coherence tomography[J]. Arch Ophthalmol, 1995,113(5):586-596.
10.	Budenz DL, Anderson DR, Varma R,et al. Determinants of normal retinal nerve fiber layer thickness measured by Stratus OCT[J]. Ophthalmology, 2007,114 (6): 1046-1052.
11.	Budenz DL, Chang RT, Huang X,et al. Reproducibility of retinal nerve fiber thickness measurements using the stratus OCT in normal and glaucomatous eyes[J]. Invest Ophthalmol Vis Sci, 2005,46(7):2440-2443.
12.	Taliantzis S, Papaconstantinou D, Koutsandrea C,et al. Comparative studies of RNFL thickness measured by OCT with global index of visual fields in patients with ocular hypertension and early open angle glaucoma[J]. Clin Ophthalmol, 2009,3:373-379.
13.	曹东,贺翔鸽,刘莛,等. 光学相干断层成像术检测近视眼视网膜神经纤维层厚度的特点[J]. 国际眼科杂志, 2008,8(10):2044-2048.
14.	Walia S, Fishman GA. Retinal nerve fiber layer analysis in RP patients using Fourier-domain OCT[J]. Invest Ophthalmol Vis Sci, 2008,49(8):3525-3528.

1. Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases[J]. AMA Arch Ophthalmol, 1958,60(2):280-289.
2. Butler IJ, Gadoth N. Kearns-Sayre syndrome:a review of a multisystem disorder of children and young adults[J]. Arch Intern Med, 1976,136(11):1290-1293.
3. López-Gallardo E, López-Pérez MJ, Montoya J,et al. CPEO and KSS differ in the percentage and location of the mtDNA deletion[J]. Mitochondrion, 2009,9(5):314-317.
4. Kim JS, Kim CJ, Chi JG,et al. Chronic progressive external ophthalmoplegia (CPEO) with 'ragged red fibers'--a case report[J]. J Korean Med Sci, 1989,4(2): 91-96.
5. 王朝霞,袁云,高枫,等. 慢性进行性眼外肌瘫痪和Kearns-Sayre综合征的线粒体DNA突变分析[J]. 中华医学遗传学杂志, 2003,20(4):273-278.
6. Barboni P, Carbonelli M, Savini G,et al. Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography[J]. Ophthalmology, 2010,117(3):623-627.
7. Barboni P, Savini G, Valentino ML,et al. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy[J]. Ophthalmology, 2005,112(1):120-126.
8. 刘杏,凌运兰,骆荣江,等. 应用光学相干断层成像术测量正常人视网膜神经层厚度[J]. 中华眼科杂志, 2000,36(5):362-365.
9. Schuman JS, Hee MR, Puliafito CA,et al. Quantification of nerve fiber layer thickness in normal and glaucomatous eyes using optical coherence tomography[J]. Arch Ophthalmol, 1995,113(5):586-596.
10. Budenz DL, Anderson DR, Varma R,et al. Determinants of normal retinal nerve fiber layer thickness measured by Stratus OCT[J]. Ophthalmology, 2007,114 (6): 1046-1052.
11. Budenz DL, Chang RT, Huang X,et al. Reproducibility of retinal nerve fiber thickness measurements using the stratus OCT in normal and glaucomatous eyes[J]. Invest Ophthalmol Vis Sci, 2005,46(7):2440-2443.
12. Taliantzis S, Papaconstantinou D, Koutsandrea C,et al. Comparative studies of RNFL thickness measured by OCT with global index of visual fields in patients with ocular hypertension and early open angle glaucoma[J]. Clin Ophthalmol, 2009,3:373-379.
13. 曹东,贺翔鸽,刘莛,等. 光学相干断层成像术检测近视眼视网膜神经纤维层厚度的特点[J]. 国际眼科杂志, 2008,8(10):2044-2048.
14. Walia S, Fishman GA. Retinal nerve fiber layer analysis in RP patients using Fourier-domain OCT[J]. Invest Ophthalmol Vis Sci, 2008,49(8):3525-3528.

Chinese Journal of Ocular Fundus Diseases

Measurement and analysis of retinal nerve fiber layer thickness in chronic progressive external ophthalmoplegia and kearns-sayre syndrome

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content