نتایج جستجو برای: coloboma
تعداد نتایج: 879 فیلتر نتایج به سال:
The aim of this study was to analyze the techniques for intraocular lens (IOL) implantation in patients with coloboma of the iris. A retrospective cohort study was used to analyze the degree of iris coloboma and the characteristics of the crystalline lens in 56 patients with iris coloboma. The patients with a lesser degree of coloboma of the iris and an intact lens capsule were treated by iris ...
Coloboma literally means defect. Ocular coloboma of the eyes is an extremely rare congenital developmental defect, which constitute one of important causes of visual impairment and blindness in the pediatric age group. Reported incidence of ocular coloboma is 0.5 to 7.5 per 10, 000 live births. Authors report an interesting case syndromic variety of ocular coloboma, where the upper eyelid colob...
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...
INTRODUCTION Choroidal coloboma is a congenital defect caused by an inadequate closure of embryonic fissure. About 40% of the eyes with the choroidal coloboma (CHC) develop the retinal detachment (RD). It is extremely difficult to manage these cases due to the lack of pigmentation at the site of choroidal coloboma. OUTLINE OF CASES This is a case series of five patients with CHC and RD who we...
The techniques used and the outcome in eyes treated for retinal detachment associated with choroidal coloboma are described. We reviewed the medical reports on five eyes of five patients with retinal detachment associated with choroidal coloboma who underwent vitrectomy. Retinal breaks were identified at the margin of or within the coloboma and the retina was successfully reattached by vitrecto...
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...
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