A 920-g male infant born with features of Potter's syndrome had multiple ocular anomalies. Ocular abnormalities included absence of keratocytes in the inner central corneal stroma, cataract with retention of cell nuclei in the nucleus of the lens, hypoplasia of the ganglion cell and nerve fiber layers of the retina, and absence of nerve bundles in the optic nerve. Other ocular findings includin...

Septo-optic dysplasia (SOD) is a congenital anomaly in which agenesis of the septum pellucidum and optic nerve hypoplasia are accompanied by hypopituitarism. Typically, the symptoms develop in 3 organs, the brain, eyes, and pituitary, and approximately one third of the patients present with all of the three cardinal features. The diagnostic criteria for SOD were established in Japan in 2015. Th...

87 Dear Editor, I read the photo essay titled “Unilateral Myelinated Retinal Nerve Fibers” with interest.[1] The authors reported a case of unilateral extensive myelination with amblyopia, with partial improvement after occlusion therapy. However, there was no comment about the status of the optic nerve head. Several reports have suggested that myelinated nerve fibers are associated with optic ...

A clinical diagnosis of septo-optic dysplasia (SOD) is made when two or more of the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities or midline brain defects. To date, a clinical study of SOD, regarding its endocrinological features in particular, has not been undertaken in Japan. We retrospectively evaluated 14 SOD patients at our institution. Hormonal dysfunction was...

the purpose of this study was to investigate magnetic resonance imaging (mri) of the normal feline eyeand optic nerves using t1-weighted and t2-weighted images. a total of 6 healthy female domestic short haircats age 2-2.5 years and weighing 3.2 ± 0.4 kg were selected. magnetic resonance imaging data werecollected using gemsow (philips) at a magnetic field strength of 1.5 t. dorsal, sagittal, a...

background :there is not any data available about the effect of high bar pressure condition on intracranial pressure. in this study, the effect of diving on the optic nerve and sheath diameters as non-invasive markers of intracranial pressure has been investigated.   methods : twenty professional male divers from twenty one volunteers were chosen for this cross-sectional study. only one person ...

Comment. Both MEB disease and Walker-Warburg syndrome have underlying deficiencies in posttranslational glycosylation of -dystroglycan that lead to severe defects in organogenesis and neuronal migration. Brain and eye phenotypes in MEB disease and WalkerWarburg syndrome likely involve defective glycosylation in proteins other than -dystroglycan since chimeric mice deficient in -dystroglycan dev...

Cassandra Fink and Mark Borchert Autism is a developmental disorder characterized by impaired social interaction, problems in verbal and nonverbal communication, and stereotyped or repetitive activities and interests. Rather than a single condition, autism is today generally regarded as consisting of a spectrum of pervasive developmental disorders that together are known as autism spectrum diso...

R In the past few years, the medical community has seen an explosion of knowledge and has felt cautious optimism about the future use of cell-based therapies for numerous diseases—including blinding diseases of children. In general, these potential therapies are centered around stem cells, which can be divided into 3 categories: (1) pluripotent embryonic stem (ES) cells derived from human embry...

A 17-year-old boy presented with a large exotropia with both eyes fixed in an abduction and upgaze, pupillary involvement since childhood. He had mild optic nerve hypoplasia in the right eye and situs inversus of the retinal vessels in the left optic disc. His ocular motility showed restriction of eye movements in all gazes. He was diagnosed with congenital fibrosis of extraocular muscles, type...