OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, retinal pigmentation changes, retinal flecks corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects nystagmus strabismus convergent, esotropia, misalignment of the visual axes of the eyes eyelids, anomalies ...

Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remai...

The PAX2 gene is mutated in patients with ocular colobomas, vesicoureteral reflux (VUR), and kidney anomalies (renal-coloboma syndrome, OMIM 120330). The three abnormalities which make up this syndrome also occur in isolation, but the causal genes are not known. PAX2 encodes a transcription factor of the paired box class of DNA binding proteins, important for the development of the urogenital t...

NEUROLOGICAL DISORDERS mental retardation mental retardation OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects strabismus convergent, esotropia, misalignment of the visual axes of the eyes iris anomalie...

Congenital ocular colobomas are the result of a failure in closure of the embryonal fissure. They are important causes of childhood visual impairment and blindness. A 22 year old female patient with no particular history complaining of blurred vision of left eye; Visual acuity of the left eye is limited to counting finger; examination of the anterior segment was unremarkable. At fundoscopy, a l...

Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained. Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G...

Uveal coloboma is a potentially blinding congenital ocular malformation caused by failure of the optic fissure to close during development. Although mutations in numerous genes have been described, these account for a minority of cases, complicating molecular diagnosis and genetic counseling. Here we describe a key role of aldh7a1 as a gene necessary for normal eye development. We show that mor...

there is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. the result of karyotype showed 47xx, with extra marker chromosome 22. although such a manifestation had not been reported in the literature, it should be considered as a very rare manifestati...