Disruption of the Photoreceptor Inner Segment-Outer Segment Junction in a 6-Year-Old Girl with Joubert Syndrome.
Neuroophthalmology 2017 Feb 19;41(1):19-23. Epub 2016 Oct 19.
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Kodaira, Tokyo, Japan.
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. Read More