With the advancement of ophthalmological genetics, the molecular basis for more and more eye diseases can be elucidated. Congenital fibrosis of extraocular muscle (CFEOM) is an example. It is characterised by a congenital non-progressive restrictive ophthalmoplegia and ptosis. It is an autosomal dominant disease, caused by mutations of the KIF21A gene. With positive family history and typical o...

purpose: to evaluate demographics and therapeutic outcomes of patients with third nerve palsy who had been treated between 1999 to 2009 at labbafinejad medical center. methods: in this retrospective study, we evaluated 52 patients with third nerve palsy who had been referred to labbafinejad medical center over a ten-year period. results: in this retrospective study, subjects who had been treate...

SUMMARY The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital. PATIENTS AND METHODS We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0-5 years who were seen at the ophthalmology unit from January 2003 to Dec...

From the Department of Neurology, Chia-Yi Christian Hospital, Chia-Yi. Received June 24, 2009. Revised and Accepted July 10, 2009. Reprint requests and correspondence to: Yu-Hisang Su, MD. Department of Neurology, Chia-Yi Christian Hospital, No 539, Chung-Shao Road, Chia-Yi, Taiwan. E-mail: [email protected] KT is a 3-year-old girl and presents with a significant left congenital ptosis. Since ...

objective this study was undertaken to evaluate the clinical spectrum of myasthenia gravis in children and determine factors that help the clinician in his/her diagnosis and management. materials & methods a retrospective review was performed on all pediatric patients suffering from myasthenia gravis (m.g) admitted in the department of pediatric neurology of the mofid hospital of the shaheed be...

A 2-year-old boy with psychomotor retardation, congenital unilateral ptosis, bilateral adducted thumbs, weakness of upper limbs, and Hirschsprung's disease (aganglionosis), with complete agenesis of the corpus callosum and hypoplasia of the inferior vermis and cerebellum is reported. His 24-year-old maternal uncle, with severe psychomotor retardation but none of the other physical problems, als...

Baraitser–Winter syndrome; Choroid coloboma; Retinal hypoplasia; Ptosis; Hypoplastic scrotum; Mental retardation Abstract We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously...