title: Macular thickness changes in a patient with Leber's hereditary optic neuropathy.
abstract: BACKGROUND
  Leber's hereditary optic neuropathy (LHON) refers to an optic nerve dysfunction due to mutations in the mitochondrial DNA, resulting in visual loss by apoptosis of retinal ganglion cells (RGC). In 20% of LHON cases, their fundus examination looks entirely normal at early stage. There are some reports regarding the circumpapillary retinal nerve fiber layer (cpRNFL) and the ganglion cell analysis around the macula in LHON patients and carriers by using optical coherence tomography.
  
  
  METHODS
  A 40-year-old female complained of acute visual loss in both eyes. Her best-corrected visual acuity was 0.3 in the right eye and 0.2 in the left eye at the initial visit. Goldmann perimetry revealed bilateral central scotomas. Fundus examination and fluorescein angiography findings were normal, but decreased retinal inner layer thickness was detected around the macular area on spectral domain optical coherence tomography (SD-OCT). One month later, her visual acuity deteriorated to counting fingers in both eyes, and the thinning area of retinal inner layer spread rapidly. Suspected progressive RGC loss led us to check the possibility of LHON, with which the patient was diagnosed due to a positive result for the mitochondrial DNA (mtDNA) 11778 mutation. The ganglion cell complex (GCC) and cpRNFL thicknesses were observed for 24 months by using SD-OCT. The GCC thickness plunged sharply within 3 months followed by gradual decline until 6 months, thereafter showing a plateau up to 24 months. On the cpRNFL map, the temporal quadrant also showed the earliest thinning as seen in the macular area of the GCC map. The thicknesses of the superior, nasal, and inferior quadrants decreased gradually, keeping their normal ranges up to 6 months.
  
  
  CONCLUSIONS
  SD-OCT was a useful tool in the diagnosis and follow-up of LHON. The macular GCC thickness map may detect the earliest morphological changes in LHON, as well as the temporal area of cpRNFL, before funduscopic examination reveals optic nerve atrophy.
authors.affiliation: Department of Ophthalmology, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo, 060-8638, Japan. sa41069@med.hokudai.ac.jp.
authors.forename: Ayako
authors.initials: A
authors.lastname: Mizoguchi
authors.affiliation: Department of Ophthalmology, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo, 060-8638, Japan. mamepopposeat@yahoo.co.jp.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Hashimoto
authors.affiliation: Department of Ophthalmology, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo, 060-8638, Japan. yshinmei@med.hokudai.ac.jp.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Shinmei
authors.affiliation: Department of Ophthalmology, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo, 060-8638, Japan. mayon77@hotmail.com.
authors.forename: Mayo
authors.initials: M
authors.lastname: Nozaki
authors.affiliation: Department of Ophthalmology, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo, 060-8638, Japan. isijima@ra3.so-net.ne.jp.
authors.forename: Kan
authors.initials: K
authors.lastname: Ishijima
authors.affiliation: Department of Ophthalmology, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo, 060-8638, Japan. yocchinn0127@med.hokudai.ac.jp.
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Tagawa
authors.affiliation: Department of Ophthalmology, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo, 060-8638, Japan. ishidasu@med.hokudai.ac.jp.|Department of Ocular Circulation and Metabolism, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo, 060-8638, Japan. ishidasu@med.hokudai.ac.jp.
authors.forename: Susumu
authors.initials: S
authors.lastname: Ishida
mesh_terms: D000328:Adult; D018450:Disease Progression; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D009412:Nerve Fibers / Q000473:pathology; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis*; D012165:Retinal Ganglion Cells / Q000473:pathology; D041623:Tomography, Optical Coherence / Q000379:methods*; D014792:Visual Acuity