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

A nine-month-old girl with nonketotic hyperglycinemia and bilateral enlargement of the corneas is reported. There was no evidence of elevated intraocular pressure or iridocorneal angle anomalies. The corneas have remained clear and lusterous without tears in Descemet's membrane. The possibility that the elevated glycine level may play a part in the buphthalmia of this patient is discussed in light of what is known about the effect or excessive dietary glycine on the developing chick eye. Further ophthalmologic study of patients with various forms of glycinemia might provide further understanding of the ways in which the developing eye may enlarge.
J Pediatr Ophthalmol Strabismus
PMID:Megalocornea in nonketotic hyperglycinemia. 73 39

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

The Molteno seton implant has recently been used in pediatric patients with advanced childhood glaucoma, who would otherwise have been treated with cyclodestructive surgery. We report a case of Molteno implant (first stage) associated with orbital cellulitis in a 1-year-old child. The presence of the implant was initially unrecognized until, in the course of evaluation for orbital cellulitis, computerized tomography of the orbit suggested a foreign body. We believe this is the first report of a complication associated with the first stage of this procedure.
J Pediatr Ophthalmol Strabismus
PMID:An unusual case of cellulitis associated with a Molteno implant in a 1-year-old child. 234 9

Developmental glaucoma, which cannot be controlled by conventional techniques, poses a difficult problem. Twenty-three eyes of 18 patients with developmental glaucoma underwent a two-stage implantation of the double template Molteno valve with follow-up between 12 and 84 months. The final pressure with medication was less than 21 mm Hg in 78% of the cases. These results were obtained in four out of four eyes with primary congenital glaucoma, six out of eight eyes with secondary congenital glaucoma, and eight of 11 eyes in which glaucoma followed surgery for congenital cataract. We feel that two-stage implantation of Molteno valves has a place in the management of difficult developmental glaucomas and is a reasonable early option when glaucoma occurs following surgery for congenital cataract.
J Pediatr Ophthalmol Strabismus
PMID:The use of two-stage Molteno implants in developmental glaucoma. 291 9

Rieger's anomaly is characterized by a dysgenesis of the anterior ocular segment with peripheral iris strands, an abnormally prominent Schwalbe's line, and a stromal atrophy of the iris. Refractory secondary glaucoma frequently demands surgical intervention with an uncertain prognosis. The charts of 15 patients with Rieger's anomaly (11 male, 4 female; mean age 21 years) were reviewed with regard to surgical management and postoperative intraocular pressure (IOP). Micro-/sclerocornea, keratoglobus, and keratopathy, micro-/buphthalmia, glaucoma, cataract, spherophakia, retinal detachment, papillary drusen, strabismus, and amblyopia were found associated with Rieger's anomaly. Secondary glaucoma required glaucoma surgery in 12 patients. Trabeculectomy (with or without mitomycin) and cyclodestructive surgery (cyclocryotherapy or cyclophotocoagulation) yielded IOP regulation in 50% of the treated eyes at a follow-up of 1 year. Cyclodestructive interventions displayed a very limited prognosis in eyes with preoperative maximal IOP values of > 45 mmHg. An obvious decline in visual acuity was observed in all patients, depending on the duration of glaucoma.
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PMID:Outcome of anterior-segment surgery in Rieger's anomaly. 947 33

Between 1982-1996 nineteen cases with retinoblastoma were hospitalized. Thirteen of them were one to three years old. The study of their origin shows fourteen cases by rural medium and five cases by city medium, seventeen cases had an unilateral evolution and two cases a bilateral evolution. Clinical manifestations which requested ophthalmological exam were: secondary glaucoma in twelve cases, leukochoria in ten cases, decreased of visual acuity in eight cases, inflammation of uvea in three cases, strabismus in two cases, buphthalmia in one case. On insist belated (100 late) presentation by the physician. Computer tomography shows the area of tumour and its extension at the neighbour structures.
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PMID:[Clinical and statistical study in retinoblastoma]. 1532 48

Retinoblastoma is a rare eye tumor of childhood that arises in the retina. It is the most common intraocular malignancy of infancy and childhood; with an incidence of 1/15,000-20,000 live births. The two most frequent symptoms revealing retinoblastoma are leukocoria and strabismus. Iris rubeosis, hypopyon, hyphema, buphthalmia, orbital cellulites and exophthalmia may also be observed. Sixty per cent of retinoblastomas are unilateral and most of these forms are not hereditary (median age at diagnosis two years). Retinoblastoma is bilateral in 40% of cases (median age at diagnosis one year). All bilateral and multifocal unilateral forms are hereditary. Hereditary retinoblastoma constitutes a cancer predisposition syndrome: a subject constitutionally carrying an RB1 gene mutation has a greater than 90% risk of developing retinoblastoma but is also at increased risk of developing other types of cancers. Diagnosis is made by fundoscopy. Ultrasound, magnetic resonance imaging (MRI) and computed tomography (CT) scans may contribute to diagnosis. Management of patients with retinoblastoma must take into account the various aspects of the disease: the visual risk, the possibly hereditary nature of the disease, the life-threatening risk. Enucleation is still often necessary in unilateral disease; the decision for adjuvant treatment is taken according to the histological risk factors. Conservative treatment for at least one eye is possible in most of the bilateral cases. It includes laser alone or combined with chemotherapy, cryotherapy and brachytherapy. The indication for external beam radiotherapy should be restricted to large ocular tumors and diffuse vitreous seeding because of the risk of late effects, including secondary sarcoma. Vital prognosis, related to retinoblastoma alone, is now excellent in patients with unilateral or bilateral forms of retinoblastoma. Long term follow-up and early counseling regarding the risk of second primary tumors and transmission should be offered to retinoblastoma patients.
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PMID:Retinoblastoma. 1693 46

Topical glaucoma medications are widely used for childhood glaucoma, although little is known concerning the use of the newer glaucoma medications in this population. The majority of the references cited were extracted from PubMed. A literature review of all English language reports related to glaucoma medication in the pediatric population since 1980 was performed. Medical therapy of pediatric glaucoma contains four groups of drugs: beta-blockers (timolol and betaxolol), carbonic anhydrase inhibitors (dorzolamide), alpha2-agonists (brimonidine), and prostaglandin analogs (latanoprost). Timolol is the first choice in pediatric glaucoma. In cases with insufficient reduction of the intraocular pressure (IOP), the combination of timolol once a day and dorzolamide twice a day brings about a good control of the IOP. Both medications are effective and well tolerated. The alpha2-agonists have more and potentially serious adverse effects in children and are contraindicated for children younger than 2 years of age. Latanoprost tends to be less effective in lowering IOP in children than in adults. However, no studies are reported where latanoprost is used in monotherapy. Additional study may further delineate this drug's role in treating pediatric glaucoma. The safety profile of latanoprost in children appears excellent.
J Pediatr Ophthalmol Strabismus
PMID:The safety and efficacy of glaucoma medication in the pediatric population. 1921 71

Vision screening in children is an ongoing process, with components that should occur at each well-child visit. The purpose is to detect risk factors and visual abnormalities that necessitate treatment and to identify those patients who require referral to an ophthalmologist skilled in examining children. Screening can reveal conditions commonly treated in primary care and can aid in discussion of visual concerns with parents or caregivers. Vision screening begins with a review of family and personal vision history to identify risk factors requiring referral, including premature birth, Down syndrome, cerebral palsy, and a family history of strabismus, amblyopia, retinoblastoma, childhood glaucoma, childhood cataracts, or ocular or genetic systemic disease. Visual acuity measurement and external ocular examination are performed to recognize refractive error, childhood glaucoma, and various ocular conditions. Evaluation of fixation and alignment can identify amblyopia or strabismus. Red reflex examination is used to diagnose retinoblastoma, childhood cataracts, and other ocular abnormalities.
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PMID:Childhood eye examination. 2394 27

Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with trichothiodystrophy who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with trichothiodystrophy.
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PMID:Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease. 3032 42


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