title: Retinal Ganglion Cell Loss in X-linked Adrenoleukodystrophy with anABCD1Mutation (Gly266Arg).
abstract: The authors here report a single case of a 10-year-old male patient who presented with severe vision loss associated with progressive demyelination. The patient was diagnosed with X-linked childhood cerebral adrenoleukodystrophy (ALD). Genetic analysis demonstrated a missense mutation (Gly266Arg) in exon 1 of theABCD1gene. His corrected visual acuity confirmed the absolute lack of light perception in both eyes. Funduscopy revealed severe pallor of the optic disc in both eyes. Spectral-domain optical coherence tomography showed thinning of the retinal ganglion cell and inner plexiform layers (GCL and IPL). Thinning of the GCL and IPL may be due to transneuronal retrograde degeneration of ganglion cells secondary to optic tract demyelination.
authors.affiliation: Department of Ophthalmology.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Ohkuma
authors.affiliation: Department of Ophthalmology.
authors.forename: Takaaki
authors.initials: T
authors.lastname: Hayashi
authors.affiliation: Department of Ophthalmology.
authors.forename: Syouyou
authors.initials: S
authors.lastname: Yoshimine
authors.affiliation: Department of Ophthalmology.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tsuneoka
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine Tokyo Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Terao
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine Tokyo Japan.
authors.forename: Masaharu
authors.initials: M
authors.lastname: Akiyama
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine Tokyo Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ida
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine Tokyo Japan.
authors.forename: Toya
authors.initials: T
authors.lastname: Ohashi
authors.affiliation: Department of Pediatrics.
authors.forename: Akihisa
authors.initials: A
authors.lastname: Okumura
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine Tokyo Japan.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Ebihara
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine Tokyo Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
authors.affiliation: Division of Genomics Research, Life Science Research Center, Gifu University Yanagido Japan.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Shimozawa
keywords: ABCD1 mutation; adrenoleukodystrophy; ganglion cell layer; optical coherence tomography; retrograde degeneration