Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber’s hereditary optic neuropathy

Author:

Ahn Ye Jin,Park Yooyeon,Shin Sun Young,Chae Hyojin,Kim Myungshin,Park Shin HaeORCID

Funder

Basic Science Research Program through the National Research Foundation of Korea(NRF) funded by Ministry of Science, ICT & Future Planning

the Catholic Medical Center Research Foundation made in the program year of 2019

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference46 articles.

1. Nikoskelainen EK, Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus ML (1996) Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 103(3):504–514

2. Meyerson C, Van Stavern G, McClelland C (2015) Leber hereditary optic neuropathy: current perspectives. Clin Ophthalmol 9:1165–1176

3. Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J et al (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 59(2):481–485

4. Newman NJ (2005) Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol 140(3):517–523

5. Nagai A, Nakamura M, Kusuhara S, Kanamori A, Negi A (2005) Unilateral manifestation of Leber’s hereditary optic neuropathy after blunt ocular trauma. Jpn J Ophthalmol 49(1):65–67

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