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 12-year-old girl with a translucent, partially calcified retinal mass in the posterior pole surrounded by a rim of pigment epithelial changes and chorioretinal atrophy was diagnosed as having retinocytoma. The patient received a single treatment of transpupillary thermotherapy at the slit lamp to prevent malignant transformation. The dimensions of the lesion and the visual acuity remained unchanged at 3.5 years of follow-up with no further treatment. Retinocytoma is a benign retinal tumor that carries the same genetic implications as retinoblastoma. Regular follow-up is necessary because the tumor can demonstrate malignant transformation.
J Pediatr Ophthalmol Strabismus
PMID:A rare case of retinocytoma occurring in a 12-year-old child. 1828 65

The aim of this study was to establish the causes of leukocoria in pediatric patients in a tertiary hospital environment. All patients younger than 10 years who presented with leukocoria between January 1, 1999, and December 31, 2000, were included in the study; 39 (55%) patients were boys and 32 (45%) patients were girls. Sixty percent of the patients who presented with leukocoria had congenital cataract (18% unilateral and 42% bilateral). Other causes included retinoblastoma (11% unilateral and 7% bilateral), retinal detachment (2.8% unilateral and 1.4% bilateral), bilateral persistent hyperplastic primary vitreous (4.2%), and unilateral Coats' disease (4.2%). Leukocoria in children demands immediate attention because a significant number of children have pathology that either threatens life or causes permanent visual disability.
J Pediatr Ophthalmol Strabismus
PMID:Leukocoria in children. 1852 99

A case of retinoblastoma with uncommon features is reported, aiming at improving follow-up. In 1993, SJMMF, 9-month-old white boy, presented a squint in the left eye. A retinal tumor was detected. The patient had a family history of retinoblastoma. Enucleation was performed and retinoblastoma was proved. The patient underwent examination for staging, all were normal. The fellow eye remained normal for 10 years. During routine examination the retina map revealed three retinoblastoma white lesions in the nasal retina. The patient underwent transpupillary thermotherapy with diode laser. After 30 days, the lesions became atrophic. After 60 days there was tumor recurrence on the border of the lesion. Sclera cryotherapy was performed. There was tumor regression for six months. During follow-up, condensations next to the atrophic tumor lesions were discovered, which were vitreous seeds. Brachitherapy with 125 iodine was done. The lesions disappeared after 30 days. New vitreous seeds appeared 3 months later, set on the retina surface. They were blocked with sclera cryotherapy and transpupillary thermotherapy. The patient presented with new vitreous seeds after six months, which adhered to the retina. They were blocked with transpupillary thermotherapy. Follow-up was for 38 months since the appearance of the bilateral tumor. The patient presents normal visual acuity and clinical examination. This case is important considering the low frequency of the disease at this age. It is essential to maintain alertness when cases of retinoblastoma are seen as cured.
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PMID:[Late presentation of bilateral retinoblastoma: case report]. 1864 39

Hirschsprung disease, bilateral retinoblastoma, and craniofacial dysmorphism with an interstitial deletion of chromosome 13 is a rare gene deletion syndrome that has twice before been described in white children. The authors present the third report of such a case in a South African child of Indian-Asian descent.
J Pediatr Ophthalmol Strabismus
PMID:Retinoblastoma and Hirschsprung disease with a 13q14 to 22 deletion. 1904 49

This report describes a case of macular pucker after triple freeze-thaw cryotherapy for retinoblastoma. Seven months after cryotherapy, the macular pucker resolved spontaneously.
J Pediatr Ophthalmol Strabismus 2009 Jun 25
PMID:Appearance and Spontaneous Resolution of Macular Pucker After Triple Freeze-Thaw Cryotherapy for Retinoblastoma. 1964 77

Leukocoria in infants is always a danger signal as retinoblastoma, a malignant retinal tumor, is responsible for half of the cases in this age group. More common signs should also be considered suspicious until proved otherwise, such as strabismus, the second most frequent sign of retinoblastoma. Less frequent manifestations are inflammatory conditions resistant to treatment, hypopyon, orbital cellulitis, hyphema or heterochromia. Other causal pathologies, including persistent hyperplastic primary vitreous (PHPV), Coats' disease, ocular toxocariasis or retinopathy of prematurity, may also manifest the same warning signs and require specialized differential diagnosis. Members of the immediate family circle are most likely to notice the first signs, the general practitioner, pediatrician or general ophthalmologist the first to be consulted. On their attitude will depend the final outcome of this vision and life-threatening disease. Early diagnosis is vital.
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PMID:Differential diagnosis of leukocoria and strabismus, first presenting signs of retinoblastoma. 1966 20

Retinoblastoma is the most common primary malignant intraocular tumor of childhood. It may present with atypical features, particularly in older children. The authors report a case of unsuspected retinoblastoma following evisceration in a 9-year-old girl who had previous pars plana vitrectomy in the affected eye.
J Pediatr Ophthalmol Strabismus 2009 Oct 02
PMID:Clinicopathological Study of a Case of Unsuspected Retinoblastoma. 1979 15

Diffuse infiltrating retinoblastoma is a rare subtype, occurring in 1% of all patients with retinoblastoma. It usually presents with pseudoinflammatory response in the anterior chamber and the vitreous, masquerading as endophthalmitis or uveitis. This report describes a 12-year-old boy with multiple free-floating intraocular pseudocysts as a unique finding in diffuse infiltrating retinoblastoma. These pseudocysts represent necrotic seeds without epithelial lining. Invasive surgical procedures should be avoided in children presenting with atypical, chronic, unilateral intraocular inflammation of unknown cause until retinoblastoma is excluded.
J Pediatr Ophthalmol Strabismus
PMID:Multiple anterior and posterior chamber pseudocysts in a 12-year-old boy with diffuse infiltrating retinoblastoma. 1979 31

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

Phthisis of the eye is an uncommon presenting sign of retinoblastoma. The authors report a case of bilateral retinoblastoma in a 14-month-old girl who presented with phthisis of the left eye. Enucleation of the painful left eye was performed. Spontaneously regressed, mostly calcified retinoblastoma was diagnosed. The patient underwent chemoreduction. Plaque radiotherapy and transpupillary thermotherapy were applied on the right side. Subsequent ophthalmoscopic examination revealed lesions showing "cottage-cheese" regression. Retinoblastoma should be suspected in any child presenting with phthisis bulbi of unknown origin and a detailed examination of the other eye should be performed.
J Pediatr Ophthalmol Strabismus 2009 Nov 27
PMID:Bilateral Retinoblastoma Presenting with Unilateral Phthisis. 1992 1


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