title: High-resolution en face images of microcystic macular edema in patients with autosomal dominant optic atrophy.
abstract: The purpose of this study was to investigate the characteristics of microcystic macular edema (MME) determined from the en face images obtained by an adaptive optics (AO) fundus camera in patients with autosomal dominant optic atrophy (ADOA) and to try to determine the mechanisms underlying the degeneration of the inner retinal cells and RNFL by using the advantage of AO. Six patients from 4 families with ADOA underwent detailed ophthalmic examinations including spectral domain optical coherence tomography (SD-OCT). Mutational screening of all coding and flanking intron sequences of the OPA1 gene was performed by DNA sequencing. SD-OCT showed a severe reduction in the retinal nerve fiber layer (RNFL) thickness in all patients. A new splicing defect and two new frameshift mutations with premature termination of the Opa1 protein were identified in three families. A reported nonsense mutation was identified in one family. SD-OCT of one patient showed MME in the inner nuclear layer (INL) of the retina. AO images showed microcysts in the en face images of the INL. Our data indicate that AO is a useful method to identify MME in neurodegenerative diseases and may also help determine the mechanisms underlying the degeneration of the inner retinal cells and RNFL.
authors.affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba 270-1694, Japan.
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Gocho
authors.affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba 270-1694, Japan.
authors.forename: Sachiko
authors.initials: S
authors.lastname: Kikuchi
authors.affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba 270-1694, Japan.
authors.forename: Takenori
authors.initials: T
authors.lastname: Kabuto
authors.affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba 270-1694, Japan.
authors.forename: Shuhei
authors.initials: S
authors.lastname: Kameya
authors.affiliation: Department of Ophthalmology, Teikyo University School of Medicine, 2-11-1 Kaga, Itabashi-ku, Tokyo 173-8605, Japan.
authors.forename: Kei
authors.initials: K
authors.lastname: Shinoda
authors.affiliation: Department of Ophthalmology, Teikyo University School of Medicine, 2-11-1 Kaga, Itabashi-ku, Tokyo 173-8605, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Mizota
authors.affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba 270-1694, Japan.
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Yamaki
authors.affiliation: Department of Ophthalmology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8602, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takahashi
mesh_terms: D000328:Adult; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D006801:Humans; D008269:Macular Edema / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D029241:Optic Atrophy, Autosomal Dominant / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D041623:Tomography, Optical Coherence
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human