Cases reported "Coloboma"

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1/6. Morning glory syndrome.

    Morning glory syndrome is a congenital optic disc anomaly in which much of the excavated colobomatous optic disc is filled with glial tissue. Ocular complications may include strabismus, reduced visual acuity and retinal detachment and it may have systemic associations as in Aicardi's syndrome. A patient with monocular morning glory syndrome and reduced visual acuity is reported. The pattern reversal visually evoked potential was reduced and the latency increased in the affected eye.
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ranking = 1
keywords = strabismus
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2/6. Colobomas of the iris and choroid and high signal intensity cerebral foci on T2-weighted magnetic resonance images in Klinefelter's syndrome.

    A 5-year-old boy presented with ocular anomalies including microphthalmos, colobomas of the iris, choroid, and optic nerve head, and strabismus. magnetic resonance imaging of the head showed multiple bilateral asymmetric high signal intensity foci in the subcortical and periventricular white matter. genetic counseling disclosed a 47,XXY karyotype.
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ranking = 1
keywords = strabismus
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3/6. Cat-eye syndrome with isolated idiopathic hypogonadotropic hypogonadism.

    A 34-year-old Japanese man diagnosed as having cat-eye syndrome (CES) with isolated idiopathic hypogonadotropic hypogonadism (IHH) was treated at our university. He showed preauricular pits/tags, downward slanting palpebral fissures, ocular hypertelorism, and strabismus. However, ocular coloboma and anal atresia, major characteristic features of CES, were negative. Chromosomal analysis revealed malformation in chromosome 22 and eunuchoid features and a low grade development of secondary sexual characteristics were also evident. Endocrinological examinations revealed that this patient was in a state of isolated IHH. Although CES with IHH is extremely rare, endocrine disorders should be given due attention.
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ranking = 1
keywords = strabismus
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4/6. optic nerve coloboma with cyst: a case report and review.

    A 7-month-old boy presented with strabismus and proptosis of the left eye. He was found to have bilateral optic nerve colobomas associated with cysts arising from the optic nerve sheath and in communication with the subarachnoid space. The evaluation and management of this entity are discussed.
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ranking = 1
keywords = strabismus
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5/6. The "cat eye" syndrome--report of a case with hypothyroidism.

    Clinical, genetic and endocrine findings in a male patient aged 27, diagnosed as a "Cat eye" syndrome bearer are presented. Clinically the patient shows: moderate psychic retardation, high forehead, epicanthus, strabismus, microretrognathism, large, low inserted ears, kypho-scoliosis, genu valgum; mild hypothyroidism. Cytogenetic examination reveals the presence of an additional small acrocentric chromosome.
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ranking = 1
keywords = strabismus
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6/6. amniotic band syndrome and strabismus.

    Three patients with various manifestations of the amniotic band syndrome associated with strabismus are presented and discussed. All three cases demonstrate a paralytic strabismus due to a unilateral paresis-paralysis of the medial rectus in one case and of the superior rectus in another. The third case showed a bilateral lateral rectus paralysis. In two cases, the strabismus was accompanied by other ocular manifestations, while in one patient strabismus and amblyopia were the sole ophthalmological findings. In two of the cases, a direct association between the mesodermal bands and the strabismus could be established, while in one case this association might have been incidental. Careful ophthalmological followup and treatment of these cases prevented needless loss of vision while appropriate muscle surgery restored acceptable cosmetic appearance in one case.
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ranking = 9
keywords = strabismus
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