We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate, anophthalmia/microphthalmia, or a cardiac defect. Mental retardation was fou...

Oesophageal atresia and/or tracheo-oesophageal fistula are relatively common malformations occurring in approximately 1 in 3500 births. In around half of the cases (syndromic oesophageal atresia), there are associated anomalies, with cardiac malformations being the most common. In the remainder (non-syndromic cases), oesophageal atresia/tracheo-oesophageal fistula occur in isolation. Data from ...

Over a Zyear period a number of spontaneous ophthalmic lesions were noted in non-human primates. These included lesions in baboons, old world monkeys, and chimpanzees. The lesions were divided into general etiologic categories of congenital, inflammatory, traumatic, degenerative, and undetermined. Specific Iesions included colobomas, cataracts, detached retina, iridocyclitis, and morphologic ch...

Homeobox genes are an evolutionarily conserved class of transcription factors that are critical for development of many organ systems, including the brain and eye. During retinogenesis, homeodomain-containing transcription factors, which are encoded by homeobox genes, play essential roles in the regionalization and patterning of the optic neuroepithelium, specification of retinal progenitors an...

Unilateral anophthalmia in a Holstein calf was examined morphologically. On the left side, a small cystic remnant of the eye ball (CRE) was present in the orbit. The CRE was adhered to the dura mater through an abnormal foramen formed in the orbital region of the cranial base. At this region of the left cerebral hemisphere, a porencephalic change was detected. Histologically, the pigment epithe...

Developmental mechanisms that regulate the areal and laminar distribution of various macromolecules, including neurotransmitter receptors in the cerebral cortex, are not known. In the present study, we examined the development of monoaminergic receptors in the rhesus monkey striate and peristriate visual cortex in the absence of input from the retina. Binocular enucleation was performed between...

BACKGROUND Enucleation in young children often results in retarded orbital growth ipsilaterally. The need for an implant that will naturally grow with the child, like Dermis-fat Graft (DFG), for managing the anophthalmia has been of interest over the years. OBJECTIVE To evaluate the use of DFG as an implant for volume replacement post-enucleation. STUDY DESIGN A prospective non-comparative ...

BACKGROUND Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of MA patients. This approach was used to investigate three unrelated families in which previous single-gene analyses failed to identify the molecular ...

We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia, and coloboma (MAC) born in Scotland during a 16 year period beginning on 1 January 1981. A total of 198 cases were confirmed giving a minimum live birth prevalence of 19 per 100 000. One hundred and twenty-two MAC cases (61.6%) from 115 different families were clinical...

Congenital blindness leads to large-scale functional and structural reorganization in the occipital cortex, but relatively little is known about the neurochemical changes underlying this cross-modal plasticity. To investigate the effect of complete and early visual deafferentation on the concentration of metabolites in the pericalcarine cortex, (1)H magnetic resonance spectroscopy was performed...