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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Klippel-Trenaunay-Weber syndrome is a rare phacomatosis of uncertain aetiology, variable expression, and disputed pathogenesis, whose cardinal signs are cutaneous angiomas, varicosities, tissue hypertrophy, and arteriovenous fistulae. The case reported herein is the first description of an unusual variant with limb and facial hemihypertrophy, congenital nystagmus, progressive ipsilateral anisomyopia, and strabismus. We review the ophthalmic findings and report the co-occurrence of hemimegalencephaly with congenital nystagmus and ipsilateral axial anisomyopia.
J Pediatr Ophthalmol Strabismus
PMID:Congenital nystagmus, anisomyopia, and hemimegalencephaly in the Klippel-Trenaunay-Weber syndrome. 185 Apr 61

A pale, elevated peripapillary lesion discovered in a young child with no family history of phakomatoses, grew larger, caused vitreous hemorrhage and underwent necrosis. Secondary inflammation developed in the eye, finally producing rubeosis irides with elevated intraocular pressure and a blind, painful eye which required enucleation. Clinically, the lesion was variably diagnosed and treated as toxoplasmosis and toxocara canis. These diagnoses were made despite low titres, a negative ELISA test and a normal eosinophil count. On histopathologic examination, a diagnosis of toxocara canis was entertained, although no remnants of the organism could be found in serial sections. Years later, when a family history of tuberous sclerosis became apparent, a diagnosis of astrocytic hamartoma of the retina with secondary hemorrhage and inflammation was made on the basis of re-examination of the pathologic specimen and special stains.
J Pediatr Ophthalmol Strabismus
PMID:Astrocytic hamartoma in tuberous sclerosis mimicking necrotizing retinochoroiditis. 715 23

A 10-year-old boy with known tuberous sclerosis since early childhood suffered from unilateral Coats' disease. Initially his parents noticed a divergent squint. On examination, well-advanced Coats' disease involving almost the entire retina including the macula was found. Visual acuity had decreased to 20/300. Intrascleral diathermy was successfully performed, and after painful secondary glaucoma, cryotherapy of the ciliary body became necessary. Coats' disease has been reported in a number of genetic diseases, most of them quite variable in their clinical manifestations. To the best of our knowledge this is the first description of Coats' disease associated with tuberous sclerosis, which is known to be of genetic origin. Although in Coats' disease no genetic predisposition has been proven to date, the growing list of genetic diseases associated with Coats' disease should be considered in patients presenting with this retinopathy.
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PMID:[Cerebral tuberous sclerosis and Coats disease]. 808 57

Three clinical cases have been chosen to illustrate the pitfalls that can be encountered when warning signs other than leukokoria or strabismus indicate possible retinoblastoma. The first case, a four-year-old boy, was admitted to hospital after an accident, presenting uveitis, glaucoma and a subluxated lens. He was suffering from unilateral retinoblastoma, already exteriorized and the cause of death some months later. The second case, and 11-month-old female child was seen on fundus examination to present a yellowish elevated calcified mass which turned out to be tuberous sclerosis. The third patient, a 43-year-old male, father of two children suffering from retinoblastoma, was found on routine examination to be carrying a partially-calcified retinal tumour. Subsequent haemorrhaging rendered enucleation necessary and microscopic examination confirmed the diagnosis of retinoma. The diagnosis of retinoblastoma should always be kept in mind whenever an intraocular mass is revealed or where there are unexplained atypical ocular signs.
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PMID:Retinoblastoma. Unusual warning and clinical signs. 834 54

A 5-month-old infant presented with a solitary retinal astrocytoma that clinically and ultrasonographically mimicked retinoblastoma. The diagnosis was established on histopathologic examination. There was no systemic evidence of tuberous sclerosis or neurofibromatosis. Thus, solitary, large, retinal astrocytomas can occur in the absence of any systemic manifestations.
J Pediatr Ophthalmol Strabismus
PMID:Solitary retinal astrocytoma in an infant. 1547 44

Tuberous sclerosis is a multisystem autosomal-dominant disease characterized by hamartomatous growths in the brain, skin, kidneys, eyes, and heart, but it may affect almost any organ. Retinal hamartomas are 1 of the major diagnostic criteria for tuberous sclerosis and occur in approximately 50% of patients. Nonretinal findings include angiofibromas of the eyelid, strabismus, and pseudo-colobomas of the lens and iris. We report a case of a newborn with congenital eyelid angiofibroma mimicking complete congenital blepharoptosis that was revealed by central nervous system imaging to be part of the tuberous sclerosis complex.
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PMID:Unilateral eyelid angiofibroma with complete blepharoptosis as the presenting sign of tuberous sclerosis. 1968 95

A 1-month-old male infant with tuberous sclerosis presented with leukocoria for an evaluation of possible retinoblastoma. The patient had several Ash leaf spots and multiple subependymal lesions on computed tomography and magnetic resonance imaging. He was found to have a large intraocular tumor in the left eye. B-scan ultrasonography of the mass did not show any calcifications. Given the size of the tumor, poor visual prognosis, and a small possibility of a retinoblastoma, the enucleation of the eye was performed. The mass revealed a retinal giant cell astrocytoma mainly composed of two cell types-giant, round cells and spindle-shaped cells-with associated aggregates of mononuclear inflammatory cells. Immunohistochemical stains were positive for neuron-specific enolase, glial fibrillary acidic protein, and S-100 protein in both cell types. CD3 and CD68 staining were positive in the mononuclear inflammatory cells. Unlike previously reported cases of giant cell astrocytic hamartomas, the current case did not reveal calcifications or substantial inflammations.
J Pediatr Ophthalmol Strabismus 2009 Nov 02
PMID:Giant Cell Astrocytoma of the Retina in a 1-Month-Old Infant. 1987 50