Pujari A, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-221547 Description A 5-month-old male child was brought with the history of right-sided corneal opacity noticed for the past 2 months. The baby was immunised until now with an uneventful antenatal and peripartum history. Ocular examination showed normal sized cornea having a paracentral nebular opacity along the inferior and nasal aspect ...

During vertebrate eye morphogenesis, a transient fissure forms at its inferior part, known as the optic fissure. This will gradually close, giving rise to a healthy, spherical optic cup. Failure of the optic fissure to close gives rise to an ocular disorder known as coloboma. During this developmental process, Foxg1 is expressed in the optic neuroepithelium, with highest levels of expression in...

Congenital colobomata of the eye are important causes of childhood visual impairment and blindness. Ocular coloboma can be seen in isolation and in an impressive number of multisystem syndromes, where the eye phenotype is often seen in association with severe neurological or craniofacial anomalies or other systemic developmental defects. Several studies have shown that, in addition to inheritan...

Goldenhar syndrome is a developmental abnormality of 1st & 2nd branchial arch involving the craniofacial microsomia with ocular & vertebral abnormality. Though most of the cases are sporadic, some familial association is also found in autosomal dominant or recessive manner. Teratogenic effect of some toxic substances may lead to the condition. Ocular abnormalities are epibulbar dermoid, lipoder...

The pathogenesis of eye anomalies induced by exposure to Ni2+ (as nickel chloride) during embryogenesis was studied in the frog, Xenopus laevis. Eyes of control and Ni(2+)-exposed tadpoles were examined without staining using a dissecting microscope, by light microscopy of histological sections, and by electron microscopy. The ocular abnormalities of Ni(2+)-exposed tadpoles included (a) microph...

Ocular developmental disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies, collectively represent leading causes of hereditary blindness. Characterized by extreme genetic and clinical heterogeneity, the separate groups share many common genetic causes, in particular relating to pathways controlling retinal and retinal pi...

Hyperkinesis and developmental behavioral deficiencies are cardinal signs of attention-deficit hyperactivity disorder. In mice, the mutation coloboma (Cm) corresponds to a contiguous gene defect that results in phenotypic abnormalities including spontaneous hyperactivity, head-bobbing, and ocular dysmorphology. In addition, coloboma mutant mice exhibit delays in achieving complex neonatal motor...

Congenital macular coloboma is characterized by defined punched out atrophic lesions of the macula. The present study aimed to investigate the genetic alterations of one Chinese sporadic patient with bilateral large macular coloboma. Complete ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination, fundus examination, fundus photograph and fundus fluorescein angio...

The PAX6 gene is involved in ocular morphogenesis and is expressed in the developing central nervous system and numerous ocular tissues during development. PAX6 mutations have been detected in various ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataracts, and foveal hypoplasia. However, it has not been identified in patients with optic-nerve malformations...