Ocular coloboma: a reassessment in the age of molecular neuroscience.

Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study.

OBJECTIVE To describe the incidence, ocular findings, and systemic associations of coloboma in a population-based cohort of children. METHODS We retrospectively reviewed the medical records of pediatric (aged <19 years) patients diagnosed as having ocular coloboma from January 1, 1968, through December 31, 2007, as residents of Olmsted County, Minnesota. RESULTS Thirty-three children were n...

Mouse model of hyperkinesis implicates SNAP-25 in behavioral regulation.

Although hyperkinesis is expressed in several neurological disorders, the biological basis of this phenotype is unknown. The mouse mutant coloboma (Cml+) exhibits profound spontaneous locomotor hyperactivity resulting from a deletion mutation. This deletion encompasses several genes including Snap, which encodes SNAP-25, a nerve terminal protein involved in neurotransmitter release. Administrat...

Spontaneous locomotor hyperactivity in a mouse mutant with a deletion including the Snap gene on chromosome 2.

The gene encoding the synaptosomal-associated protein--25 kDa (SNAP-25) was mapped by analysis of somatic cell hybrids and an intersubspecies backcross to mouse Chromosome 2. To identify potential mutants for SNAP-25, mice bearing mutations mapping to this region of Chromosome 2 were screened for Snap gene abnormalities. Mice heterozygous for the semidominant mutation coloboma (Cm/+) were ident...

Hereditary macular coloboma.

Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma

PURPOSE We recently demonstrated that molecular therapy using aminoglycosides can overcome the underlying genetic defect in two zebrafish models of ocular coloboma and showed abnormal cell death to be a key feature associated with the optic fissure closure defects. In further studies to identify molecular therapies for this common congenital malformation, we now examine the effects of anti-apop...