title: Disruption of the Photoreceptor Inner Segment-Outer Segment Junction in a 6-Year-Old Girl with Joubert Syndrome.
abstract: Joubert syndrome (JS) is a spectrum of genetic disorders characterised by cerebellar and brainstem malformation called "molar tooth sign", resulting in hypotonia, developmental delay, and intellectual disability. Here we describe a young female JS patient with "salt-and-pepper" fundus and inner segment-outer segment junction (IS/OS line) discontinuity, with a lack of external limiting membrane. Ocular coherence tomography (OCT) detected blurred external retinal layers in the macula centre. Although JS patients often have retinal degeneration with varying severity, few investigators have utilised OCT in their investigations. Our findings will help clarify the precise mechanisms of retinal involvement in JS.
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Kodaira, Tokyo, Japan.
authors.forename: Shimpei
authors.initials: S
authors.lastname: Baba
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Kodaira, Tokyo, Japan.
authors.forename: Eri
authors.initials: E
authors.lastname: Takeshita
authors.affiliation: Department of Ophthalmology, Kohnodai Hospital, National Center for Global Health and Medicine , Ichikawa, Chiba, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Yamazaki
authors.affiliation: Sakura-so Rehabilitation and Nursery Center for Disabled Children , Saitama, Saitama, Japan.
authors.forename: Mikako
authors.initials: M
authors.lastname: Tarashima
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Kodaira, Tokyo, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
keywords: Inner segment–outer segment junction disruption; Joubert syndrome; ocular coherence tomography; retinal pigmentation