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)

We have observed congenital glaucoma in a patient with a skeletal dysplasia closely resembling Kniest syndrome. The clinical and radiographic features, along with the differential diagnosis of Kniest syndrome, are discussed. Review of the literature suggests a relationship between the pathophysiology of bone dysplasia and congenital glaucoma. Congenital glaucoma may be an additional ocular finding in Kniest syndrome.
J Pediatr Ophthalmol Strabismus
PMID:Congenital glaucoma and skeletal dysplasia. 208 51

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

Three infant boys with a bilateral congenital retinopathy characterized by retinal vascular hypoplasia and persistence of the primary vitreous are described. The infants were healthy and had no non-ocular physical abnormalities. None had histories of prematurity or low birth weight. Family histories were negative to similar retinopathy, and the fundi of all examined blood relatives were normal. The described congenital retinopathy is compared and contrasted with persistent hyperplastic primary vitreous, Norrie's disease, idiopathic retinal dysplasia, familial exudative vitreoretinopathy, retinopathy of prematurity, and incontinentia pigmenti.
J Pediatr Ophthalmol Strabismus
PMID:Bilateral retinal vascular hypoplasia associated with persistence of the primary vitreous: a new clinical entity? 328 58

A case of Moebius syndrome with bilateral aplasia of the medial and lateral recti is reported. The fibrous bands that replaced the medial recti were inserted posteriorly on the globe resulting in a restrictive large angle esotropia. Surgical intervention resulted in alignment in the primary position. The present case favors a primary mesodermal dysplasia of the extraocular musculature in Moebius syndrome.
J Pediatr Ophthalmol Strabismus
PMID:Extraocular muscle aplasia in Moebius syndrome. 372 93

The sclerosing bone dysplasias are a group of rare genetic disorders in which overgrowth of the cranio-facial skeleton causes a variety of ophthalmological complications. During the past decade more than 100 South Africans with conditions in this category have been investigated and their ocular manifestations have been appraised. Sclerosteosis was diagnosed in 45 persons. In 70% of the affected adults progressive thickening of the skull led to elevation of intracranial pressure and papilloedema. Proptosis and divergent strabismus was present in 25%, while excessive lacrimation due to bone obstruction of the tear ducts was seen in 28%. Evidence of compression of cranial nerves was present in the majority of patients, but visual loss due to involvement of the second cranial nerve did not occur. Three related patients with the severe autosomal recessive form of oculodento-osseous dysplasia had visual impairment with microphthalmia, microcornea and cataracts, which had been present since birth. The severe autosomal recessive form of osteopetrosis was encountered in two infants, both of whom developed optic atrophy and became blind. The benign autosomal dominant form of osteopetrosis was diagnosed in ten persons; none had ocular involvement. Other sclerosing bone dysplasia patients with ocular involvement included two males with frontometaphyseal dysplasia and gross supra-orbital enlargement and five children with pycnodysostosis and scleral blueing.
 ...
PMID:Ophthalmological complications in the sclerosing bone dysplasias. 393 71

The differential diagnosis of leukocoria (pseudoglioma) in the neonate includes multiple conditions, including malformations with retinal dysplasia as a component. Typically bilateral, retinal dysplasia is characteristically seen in microphthalmic eyes. Certain chromosomal defects have been described. The case reported herein presented in the first month of life with an enlarged eye, elevated intraocular pressure, prominent iris vasculature, and leukocoria. Family history was positive in one respect: this is the second child of a Viet Nam veteran exposed to Agent Orange. The first child, from a different mother, also had birth defects. Other than his left eye, the child is completely normal. Ultrasonography showed posterior vitreous opacities of indeterminate configuration. CT scan suggested a posterior intraocular mass. Histologically, the principal features were an anomalous, largely unformed corneoscleral angle, intraocular hemorrhage, and retinal dysplasia. Light microscopic studies were performed. The corneoscleral angle revealed an anteriorly inserted iris with an absence of trabecular meshwork and Schlemm's canal. This case is considered unique on the basis of the association of retinal dysplasia with congenital glaucoma and larger-than-normal eye. The significance of reported paternal exposure to Agent Orange in this instance is unknown.
J Pediatr Ophthalmol Strabismus
PMID:Congenital glaucoma and retinal dysplasia. 404 44

The ocular findings in two patients with Chronic Familial Hyperphosphatasemia are described in detail. They consist mainly of abnormal pigmentation, the presence of retinal folds of variable degree, and angioid streaks. It is suggested that these changes are in relationship to abnormal collagen metabolism and that CHF is not only a bone dysplasia but a more generalized condition with variable extraskeletal manifestations.
J Pediatr Ophthalmol Strabismus
PMID:Ocular abnormalities in chronic familial hyperphosphatasemia. 625 Nov 95

A case is reported of a five-month-old female with incontinentia pigmenti associated with nasolacrimal duct obstruction. Ocular manifestations of incontinentia pigmenti have previously been described to include persistent hyperplastic primary vitreous, retinal dysplasia, retrolental fibroplasia, corneal opacities, cataract, optic atrophy, and strabismus. This case is believed to be the first reported instance of incontinentia pigmenti associated with nasolacrimal duct obstruction. The management of this patient is also discussed.
 ...
PMID:Incontinentia pigmenti associated with nasolacrimal duct obstruction. 652 80

A 34-year-old Caucasian woman underwent craniofacial surgery for fronto-orbital fibrous dysplasia. She developed vertical diplopia for 10 months after surgery, which then disappeared for 1 month. The deviation returned with a circadian pattern, 24 hours of hypertropia and exotropia with diplopia alternating with 24 hours of straight eyes and fusion. Three months after the onset of this pattern, surgery was performed, resulting in straight eye position and fusion daily. The similarities to cyclic esotropia are discussed. The etiology of circadian strabismus remains unknown.
 ...
PMID:Cyclic vertical deviation. 653 21

Visual screening tests were done on 61 individuals with various types of genetic skeletal dysplasias to determine which, if any, refractive errors are associated with each type. In individuals with achondroplasia, refractive error distribution was approximately that expected from its distribution in the general population. However, there was a significantly higher than expected frequency of strabismus in achondroplasts. A tendency to myopia was noted in diastrophic dysplasia and in those individuals with spondyloepiphyseal dysplasia.
 ...
PMID:Optometric screening in achondroplasia, diastrophic dysplasia, and spondyloepiphyseal dysplasia congenita. 676 35


<< Previous 1 2 3 4 5 6 Next >>