Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 10-year-old female with a generalized bone dysplasia was found to have a rare condition, Melnick-Needles syndrome. Characteristic clinical features of this syndrome include exophthalmos, hypertelorism, micrognathia, malaligned teeth, and large ears in a person with multiple bone deformities. In addition to the usual characteristic clinical findings, sclerocornea and cornea plana were also present in this patient. This is the first case of Melnick-Needles syndrome reported in the ophthalmological literature and the first case reported with ophthalmological findings other than exophthalmos and strabismus.
J Pediatr Ophthalmol Strabismus
PMID:Melnick-Needles syndrome. 10 22

At the National Institute of Neurosurgery a team of ophthalmologists and neurosurgeons has for 20 years been collaborating in the research and treatment of optic nerve gliomas. Among 34 patients, 30 were under the age of 20 years, and 20 under the age of 10 years. Of the 20 patients younger than 10 years, 16 were girls. The clinical symptoms were classified into three groups: I. Unilateral visual impairment with unilateral axial proptosis (16 patients), strabismus (6 cases), and typical X-ray findings of the skull. II. Uni- or bilateral visual impairment without proptosis (12 patients), depressed vision in the homolateral eye (9 patients), hemianopia (2 out of 4 examined patients) and hemiparesis (6 cases). III. Uni- or bilateral visual impairment without proptosis but with hormonal or metabolic disturbances (6 patients). Carotid angiography and PEG were performed in groups II and III and revealed a picture that is characteristic of suprasellar tumours. 99mTc pertechnetate scanning was done in six cases and showed isotope accumulation in the tumour in five. Pathologically, considering also the clinical aspects, two types of localization merit consideration: 1. The relationship between the tumour and the optic nerve (tumours growing within and extending beyond the optic pathways, respectively) and 2. The site of the tumour within the optic nerve (intraorbital, intraorbital and intracranial, intracranial only, chiasmal, and diffuse). Our data of histology and tissue culture prove the benign nature of the tumour even in the recurrences.
 ...
PMID:Optic nerve gliomas. I. Clinical diagnosis and pathology. 66 30

Pediatric orbital pseudotumor may be associated with iritis, unlike the adult form of this disorder. However, orbital pseudotumor is seldom considered in the differential diagnosis of childhood uveitis. We report two cases of children with uveitis who were ultimately diagnosed as having orbital pseudotumor. No proptosis was noted in either child. For those pediatric patients with a persistent or recurrent uveitis and a previous negative diagnostic workup, the possibility of an orbital pseudotumor should be considered and ultrasonography, magnetic resonance imaging, and/or computed tomography performed.
J Pediatr Ophthalmol Strabismus
PMID:Orbital pseudotumor in the differential diagnosis of pediatric uveitis. 845 31

A "transorbital" three-wall decompression through a modified blepharoplasty incision was used to treat 19 orbits for either cosmetic disfigurement or optic neuropathy. In the 14 orbits with disfigurement, surgical retroplacement averaged 5.2 mm; vision improved to 20/40 or better in four of five eyes with optic neuropathy. Complications attributed to the surgery included: acquired strabismus (two transient, one permanent) and infraorbital hypesthesia (one transient, one permanent). This technique's advantages are: 1) a single incision with wide exposure, 2) a low incidence of permanent strabismus, 3) a lateral orbital rim and canthal tendon preservation, and 4) a large reduction in proptosis.
 ...
PMID:Orbital decompression for Graves' disease: exposure through a modified blepharoplasty incision. 150 81

A case of ganglioglioma of the optic pathway associated with congenital exophthalmos and strabismus is presented. Since the tumor extended from the right optic nerve to the right geniculate body, it was diagnosed as an optic glioma before operation. However, optic nerve biopsy showed that the lesion was a ganglioglioma. Although a literature review yielded two previous cases of ganglioglioma of the optic pathway, this is the first case in which the tumor involved the whole optic pathway.
 ...
PMID:Ganglioglioma of the optic pathway. A case report. 172 78

The case of a 10-year-old girl is reported, in whom the diagnosis of Crouzon's disease was established, with obvious radiological cranial changes, minimal facial abnormalities and at the ocular examination a moderate bilateral exophthalmos, divergent strabismus at the right eye and bilateral optic atrophy with a useful vision only at the left eye, without other associated manifestations and with maintenance of an average intellectual and mental level. The differential diagnosis of the disease, the ocular symptomatology and the treatment are discussed.
 ...
PMID:Crouzon's disease. 181 54

With the possible exception of aesthetic considerations, the visual system is more involved in craniosynostosis than any other. Changes may be an inherent feature of the pathologic process or occur as a secondary complication. Several of these are potentially devastating, resulting in substantial permanent impairment in visual function. Because these are avoidable if recognized and managed early, prompt involvement of an ophthalmologist in the care of children with craniosynostosis is essential. Improvement in the appearance of these cases cannot obscure the importance of functional problems. In particular, disc edema, optic atrophy, and progressive optic nerve dysfunction may accompany increased intracranial pressure even without evidence of hydrocephalus and even with apparently open fontanelles. Uncorrected refractive error (particularly anisometropia), strabismus, ptosis, and corneal exposure problems are an invitation to the development of amblyopia. If not reversed, this can lead to permanent visual disability. Proptosis and corneal exposure problems are a third potentially treatable cause of functional blindness. Early diagnosis and prompt care will hopefully continue to improve the prognosis for these increasingly treatable children.
 ...
PMID:Ophthalmic features of craniosynostosis. 182 6

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.
J Pediatr Ophthalmol Strabismus
PMID:Optic nerve coloboma with cyst: a case report and review. 195 64

Patients with Apert syndrome inevitably have ocular problems. These include proptosis, strabismus, amblyopia, optic atrophy, and occasionally papilledema. Visual loss or blindness is a real possibility and can be avoided. Craniofacial surgery, while alleviating proptosis, may cause an alteration in strabismus, visual loss, and tearing problems. These children should always be assessed and followed by an ophthalmologist as part of the craniofacial team.
 ...
PMID:Ocular aspects of Apert syndrome. 206 92

Apert-Crouzon syndrome (formerly ACS type 2; 10130) is now considered a subset of autosomal dominant Apert acrocephalosyndactyly type 1 (10120), with features of craniosynostoisis, syndactyly of all extremities, maxillary hypoplasia, "parrot-beaked" nose, hypertelorism, exophthalmos, external strabismus, and short upper lip. We report a 3 1/2-month-old infant with features of Apert syndrome, plus thoracic vertebral anomalies radiographically similar to those seen in spondylothoracic dysplasia, a condition in which block thoracic vertebrae with widely open neural arches and a fan-shaped thoracic cage are found. Our patient also had flared metaphyseal ends of humeri, dislocated radii with immobile elbows, an unusual tail-like protuberance in the coccygeal area, and a solid cartilaginous tracheal wall. To date, in ongoing reviews of radiographs of other patients with acrocephalosyndactyly or acrocephalopolysyndactyly complexes and of relevant literature, we have not identified other patients with these findings. The vertebrae and intervertebral discs of the patient in this report, three patients with Jarcho-Levin syndrome, and one with Apert syndrome were measured from anteroposterior chest radiographs; the findings clearly distinguish the condition in our patient from Jarcho-Levin syndrome or Apert syndrome.
 ...
PMID:Acrocephalospondylosyndactyly--a possible new syndrome: analysis of the vertebral and intervertebral components. 231 26


1 2 3 4 5 6 7 8 9 10 Next >>