Pathogenic mutation in a patient with Oguchi disease_Chinese Journal of Ocular Fundus Diseases

Authors：

Xia Luqi ¹ , Cai Xuebi ¹ , Zheng Yihan ¹ , Wen Xinran ¹ , Zhou Fangyue ¹ , Nao-i Nobuyuki ² ,  Jin Zibing ¹

1. Division of Ophthalmic Genetics, Laboratory for Stem Cell & Retinal Regeneration, Eye Hospital of Wenzhou Medical University, State Key Laboratory of Ophthalmology, Optometry and Visual Science, National Joint Research Center for Regenerative Medicine and Neurogenetics, Wenzhou 325027, China;
2. Department of Ophthalmology & Visual Sciences, University of Miyazaki;

Corresponding author：

Jin Zibing, Email: jinzb@mail.eye.ac.cn

Keywords：

Retinal diseases/genetics; Frameshift mutation; Exome; Oguchi disease; SAG gene

DOI：

10.3760/cma.j.cn511434-20190628-00206

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Objective To identify the pathogenic mutation in a patient with Oguchi disease.Methods A Japanese patient with Oguchi disease was enrolled in this study, and underwent a comprehensive medical history assessment and multiple ophthalmic examinations, including BCVA, OCT, color fundus photography and full field electroretinogram. Genomic deoxyribonucleic acid (DNA) was extracted from peripheral blood samples for whole exome sequencing. The gene mutation was detected, and the analysis software was used to determine the conservation of the mutation and the possible structural changes.Results The patient, 71 years old, with consanguineous parents, complained of night blindness since early childhood. BCVA in both eyes was 0.7 and the golden-yellowish reflex appeared in the grey retina. The scotopic 0.01 ERGs showed a extinguished reaction in both eyes. The scotopic 3.0 ERGs showed a “negative” configuration with a significantly reduced a wave and a nearly absent b wave. A homozygous deletion mutation in the SAG gene (c.924delA, p.N309Tfs*12) in this patient was founded by DNA sequencing, which was predicted to generate prematurely truncated SAG protein and result in severe structural change. Homology analysis of the protein sequence indicated that the mutation resulted in an altered amino acid which was evolutionarily highly conserved among different species, strongly suggesting the potential pathogenicity of this homozygous mutation.Conclusion The mutation c.924delA(309Tfs*12) in SAG cause Oguchi disease in this patient.

Citation： Xia Luqi, Cai Xuebi, Zheng Yihan, Wen Xinran, Zhou Fangyue, Nao-i Nobuyuki, Jin Zibing. Pathogenic mutation in a patient with Oguchi disease. Chinese Journal of Ocular Fundus Diseases, 2020, 36(3): 192-195. doi: 10.3760/cma.j.cn511434-20190628-00206 Copy

1.	Oguchi C. Ueber Eine Abart Von Hemeralopie (in Japanese)[J]. Acta Soc Ophthalmol Jpn, 1907, 11: 123-134.
2.	Mizuo G. A new discovery in dark adaptation in Oguchi disease[J]. Acta Soc Ophthalmol Jpn, 1913, 17: 1148-1150.
3.	Carr RE, Gouras P. Oguchi's disease[J]. Arch Ophthalmol, 1965, 73: 646-656. DOI: 10.1001/archopht.1965.00970030648010.
4.	Sonoyama H, Shinoda K, Ishigami C, et al. Oguchi disease masked by retinitis pigmentosa[J]. Doc Ophthalmol, 2011, 123(2): 127-133. DOI: 10.1007/s10633-011-9286-x.
5.	Yamamoto S, Hayashi M, Takeuchi S. Normal S cone electroretinogram b-wave in Oguchi's disease[J]. Br J Ophthalmol, 1997, 81(12): 1043-1045. DOI: 10.1136/bjo.81.12.1043.
6.	Kato Y, Tsunoda K, Fujinami K, et al. Association of retinal artery and other inner retinal structures with distribution of tapetal-like reflex in Oguchi's disease[J]. Invest Ophthalmol Vis Sci, 2015, 56(4): 2162-2172. DOI: 10.1167/iovs.14-16198.
7.	Nishiguchi KM, Ikeda Y, Fujita K, et al. Phenotypic features of Oguchi disease and retinitis pigmentosa in patients with s-antigen mutations: a long-term follow-up study[J]. Ophthalmology, 2019, 126(11): 1557-1566. DOI: 10.1016/j.ophtha.2019.05.027.
8.	Yoshida S, Yamaji Y, Yoshida A, et al. Rapid detection of Sag 926dela mutation using real-time polymerase chain reaction[J]. Mol Vis, 2006, 12: 1552-1557.
9.	Hayashi T, Tsuzuranuki S, Kozaki K, et al. Macular dysfunction in Oguchi disease with the frequent mutation 1147dela in the Sag gene[J]. Ophthalmic Res, 2011, 46(4): 175-180. DOI: 10.1159/000325024.
10.	Fujinami K, Tsunoda K, Nakamura M, et al. Oguchi disease with unusual findings associated with a heterozygous mutation in the Sag gene[J]. Arch Ophthalmol, 2011, 129(10): 1375-1376. DOI: 10.1001/archophthalmol.2011.300.
11.	Yuan A, Nusinowitz S, Sarraf D. Mizuo--Nakamura phenomenon with a negative waveform ERG[J]. Br J Ophthalmol, 2011, 95(1): 147-148, 156. DOI: 10.1136/bjo.2009.158980.
12.	Nakazawa M, Wada Y, Tamai M. Arrestin gene mutations in autosomal recessive retinitis pigmentosa[J]. Arch Ophthalmol, 1998, 116(4): 498-501. DOI: 10.1001/archopht.116.4.498.
13.	Colombo L, Abeshi A, Maltese PE, et al. Oguchi type Ⅰcaused by a homozygous missense variation in the SAG gene[J]. Eur J Med Genet, 2019, 62(9): 103548. DOI: 10.1016/j.ejmg.2018.09.015.
14.	Waheed NK, Qavi AH, Malik SN, et al. A nonsense mutation in S-antigen (p. Glu306*) causes Oguchi disease[J]. Mol Vis, 2012, 18: 1253-1259.
15.	Huang L, Li W, Tang W, et al. A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene[J]. Mol Vis, 2012, 18: 528-536.
16.	Sergouniotis PI, Davidson AE, Sehmi K, et al. Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the sag gene[J]. Eye(Lond), 2011, 25(8): 1098-1101. DOI: 10.1038/eye.2011.88.
17.	Sommer ME, Farrens DL. Arrestin can act as a regulator of rhodopsin photochemistry[J]. Vision Res, 2006, 46(27): 4532-4546. DOI: 10.1016/j.visres.2006.08.031.
18.	Godara P, Cooper RF, Sergouniotis PI, et al. Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease[J]. Am J Ophthalmol, 2012, 154(6): 987-1001. DOI: 10.1016/j.ajo.2012.06.003.
19.	Yamada K, Motomura Y, Matsumoto CS, et al. Optical coherence tomographic evaluation of the outer retinal architecture in Oguchi disease[J]. Jpn J Ophthalmol, 2009, 53(5): 449-451. DOI: 10.1007/s10384-009-0708-1.
20.	Usui T, Ichibe M, Ueki S, et al. Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease[J]. Am J Ophthalmol, 2000, 130(3): 359-361. DOI: 10.1016/s0002-9394(00)00532-8.

1. Oguchi C. Ueber Eine Abart Von Hemeralopie (in Japanese)[J]. Acta Soc Ophthalmol Jpn, 1907, 11: 123-134.
2. Mizuo G. A new discovery in dark adaptation in Oguchi disease[J]. Acta Soc Ophthalmol Jpn, 1913, 17: 1148-1150.
3. Carr RE, Gouras P. Oguchi's disease[J]. Arch Ophthalmol, 1965, 73: 646-656. DOI: 10.1001/archopht.1965.00970030648010.
4. Sonoyama H, Shinoda K, Ishigami C, et al. Oguchi disease masked by retinitis pigmentosa[J]. Doc Ophthalmol, 2011, 123(2): 127-133. DOI: 10.1007/s10633-011-9286-x.
5. Yamamoto S, Hayashi M, Takeuchi S. Normal S cone electroretinogram b-wave in Oguchi's disease[J]. Br J Ophthalmol, 1997, 81(12): 1043-1045. DOI: 10.1136/bjo.81.12.1043.
6. Kato Y, Tsunoda K, Fujinami K, et al. Association of retinal artery and other inner retinal structures with distribution of tapetal-like reflex in Oguchi's disease[J]. Invest Ophthalmol Vis Sci, 2015, 56(4): 2162-2172. DOI: 10.1167/iovs.14-16198.
7. Nishiguchi KM, Ikeda Y, Fujita K, et al. Phenotypic features of Oguchi disease and retinitis pigmentosa in patients with s-antigen mutations: a long-term follow-up study[J]. Ophthalmology, 2019, 126(11): 1557-1566. DOI: 10.1016/j.ophtha.2019.05.027.
8. Yoshida S, Yamaji Y, Yoshida A, et al. Rapid detection of Sag 926dela mutation using real-time polymerase chain reaction[J]. Mol Vis, 2006, 12: 1552-1557.
9. Hayashi T, Tsuzuranuki S, Kozaki K, et al. Macular dysfunction in Oguchi disease with the frequent mutation 1147dela in the Sag gene[J]. Ophthalmic Res, 2011, 46(4): 175-180. DOI: 10.1159/000325024.
10. Fujinami K, Tsunoda K, Nakamura M, et al. Oguchi disease with unusual findings associated with a heterozygous mutation in the Sag gene[J]. Arch Ophthalmol, 2011, 129(10): 1375-1376. DOI: 10.1001/archophthalmol.2011.300.
11. Yuan A, Nusinowitz S, Sarraf D. Mizuo--Nakamura phenomenon with a negative waveform ERG[J]. Br J Ophthalmol, 2011, 95(1): 147-148, 156. DOI: 10.1136/bjo.2009.158980.
12. Nakazawa M, Wada Y, Tamai M. Arrestin gene mutations in autosomal recessive retinitis pigmentosa[J]. Arch Ophthalmol, 1998, 116(4): 498-501. DOI: 10.1001/archopht.116.4.498.
13. Colombo L, Abeshi A, Maltese PE, et al. Oguchi type Ⅰcaused by a homozygous missense variation in the SAG gene[J]. Eur J Med Genet, 2019, 62(9): 103548. DOI: 10.1016/j.ejmg.2018.09.015.
14. Waheed NK, Qavi AH, Malik SN, et al. A nonsense mutation in S-antigen (p. Glu306*) causes Oguchi disease[J]. Mol Vis, 2012, 18: 1253-1259.
15. Huang L, Li W, Tang W, et al. A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene[J]. Mol Vis, 2012, 18: 528-536.
16. Sergouniotis PI, Davidson AE, Sehmi K, et al. Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the sag gene[J]. Eye(Lond), 2011, 25(8): 1098-1101. DOI: 10.1038/eye.2011.88.
17. Sommer ME, Farrens DL. Arrestin can act as a regulator of rhodopsin photochemistry[J]. Vision Res, 2006, 46(27): 4532-4546. DOI: 10.1016/j.visres.2006.08.031.
18. Godara P, Cooper RF, Sergouniotis PI, et al. Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease[J]. Am J Ophthalmol, 2012, 154(6): 987-1001. DOI: 10.1016/j.ajo.2012.06.003.
19. Yamada K, Motomura Y, Matsumoto CS, et al. Optical coherence tomographic evaluation of the outer retinal architecture in Oguchi disease[J]. Jpn J Ophthalmol, 2009, 53(5): 449-451. DOI: 10.1007/s10384-009-0708-1.
20. Usui T, Ichibe M, Ueki S, et al. Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease[J]. Am J Ophthalmol, 2000, 130(3): 359-361. DOI: 10.1016/s0002-9394(00)00532-8.

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Pathogenic mutation in a patient with Oguchi disease

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