leiomyoma is a very rare intraocular tumor, which can occur in the iris, ciliary body and choroids. we report a case of choroidal leiomyoma in a 16-years old women whose left eye was enucleated because of clinical suspicion for melanoma. using conventional light microscopy tumor was interpreted as spindle cell tumor, most probably of neurogenic origin and after using immunohistochemical studies...

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...

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...

PURPOSE To report the optical coherence tomography (OCT) findings in a patient with unilateral macular coloboma. METHODS A 12-year-old male was presented with macular coloboma in the left eye. The optical coherence tomography was performed with fluorescein angiography (FA). RESULTS The OCT revealed the crater-like depression in the macula, demonstrating atrophic neurosensory retina, and an ...

An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundu...

PURPOSE To review the recent literature and describe the authors' experience with congenital upper eyelid coloboma. METHODS In this review, we will summarize the embryologic and etiopathogenetic bases of congenital upper eyelid coloboma, and study the published clinical reports. We will also attempt to briefly shed some light on the rarer syndromic curiosities associated with upper eyelid col...

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...

Urkude J, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-221549 Description Case 1: A posterior segment B-scan ultrasonography in a patient with typical iris coloboma and total cataract, showed well-defined excavated area in the inferior part just below the optic disc (red arrow) with the absence of retinochoroidal layer, suggestive of fundal coloboma (yellow arrow) (figure 1A). Involvement of ...

Purpose: To report a rare case of bilateral circumscribed posterior keratoconus in microcornea associated with unilateral irido-fundal coloboma. Method: A case of bilateral circumscribed posterior keratoconus associated with unilateral irido-fundal coloboma presented to us with complaints of diminution of vision in both eyes since birth. The patient had undergone renal transplant for end stage ...