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)

An 11-month-old boy presented with uniocular hypopyon, elevated intraocular pressure, and iris nodules. A differential diagnosis of physical abuse, infection, retinoblastoma, juvenile xanthogranuloma, and histiocytosis X were considered but initial physical and laboratory investigations all had normal results. Three weeks following initial presentation, the child developed fulminant acute myelogenous leukemia. The clinical course, investigations, and outcome are reviewed.
J Pediatr Ophthalmol Strabismus
PMID:Pseudohypopyon in acute myelogeneous leukemia. 762 68

Among the 185 retinoblastoma patients seen at the Lausanne Retinoblastoma Clinic from 1963-1993, 24 (14%) first presented with another sign than classical leukocoria (60.5%) or strabismus (21.5%). Most of these atypical signs were related to inflammatory complications of unrecognized retinoblastoma; they consisted of low vision (1.5%), hypopyon (2%), ocular redness and pain (1.5%), ocular redness and buphtalmia (1.5%), as well as photophobia and headaches (1.5%). The presence of unexplained chronic ocular signs during childhood should always raise the possibility of an underlying retinal malignancy.
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PMID:[Unusual presentation of retinoblastoma]. 805 60

Retinoblastoma is the most frequent malignant tumour of the eye in the child; the median age at diagnosis is two years. A model of carcinogenesis by two successive mutations has been devised for this tumour and explains the two forms of the disease, hereditary and non-hereditary. It is most often manifested by a whitish pupillary reflection (leukocoria) or internal strabismus. Funduscopy using general anaesthesia is used to confirm diagnosis and assess endo-ocular extension. When the disease is confined to the retina, local treatment (enucleation, radiation therapy) leads to cure in a very large majority of cases. When diagnosis is made early, particularly as in familial cases, conservative treatment is possible. In intra- and extra-retinal disease, chemotherapy and radiation therapy can improve prognosis.
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PMID:[Retinoblastoma]. 814 37

Of 440 consecutive children with retinoblastoma whom we treated between April 1972 and April 1992, 13 (3%) developed a midline intracranial neoplasm. Four of these 13 patients had bilateral familial retinoblastoma, 7 had bilateral sporadic retinoblastoma, and 1 patient had unilateral familial retinoblastoma. The twin brother of the latter patient developed pinealoblastoma without retinoblastoma. In this series, the incidence of trilateral retinoblastoma was 8% of all bilateral familial retinoblastoma and 5% of all bilateral sporadic retinoblastoma. The retinoblastoma was diagnosed at a mean age of 4.5 months and the midline intracranial tumor was diagnosed at a mean age of 23 months. The mean time interval between the diagnosis of retinoblastoma and the intracranial tumor was 22 months (range, 0 to 48 months). Seven patients (55%) were asymptomatic and their intracranial neoplasm was found on routine brain-imaging studies. The primary intracranial neoplasm had a pineal location in 10 cases and parasellar location in three cases. Despite aggressive combined treatment, 12 patients (92%) have died at a mean interval of 11 months after the diagnosis of intracranial malignancy. The mean survival of patients with midline intracranial neoplasm who were asymptomatic was significantly longer than that of symptomatic patients (P = .05).(ABSTRACT TRUNCATED AT 250 WORDS)
J Pediatr Ophthalmol Strabismus
PMID:Clinical variations of trilateral retinoblastoma: a report of 13 cases. 819 59

A retrospective analysis of the records of 1253 retinoblastoma patients (567 females, 665 males, and sex of one unknown) seen in the years 1951-1965 (575 patients, Interval I) and 1966-1980 (678 patients, Interval II) was conducted to determine changes in the manner of presentation of the disease, the treatment modalities employed, and their subsequent outcomes following treatment. There was no significant difference between the two 15-year time intervals in the age at presentation (mean, range), laterality, gender, family history, laterality vs gender distribution, family history vs laterality, employment of chemotherapy in unilateral cases or the use of external beam radiation (EBR) in bilateral cases. Changing trends in the management of retinoblastoma were observed as a result of the introduction of new treatment modalities, such as cryotherapy, light coagulation, and radioactive plaque therapy. Bilateral patients have received chemotherapy less frequently in interval II. The use of photocoagulation, cryotherapy, and brachytherapy for bilaterals, and cryotherapy for unilaterals increased significantly during Interval II. During both time intervals, a significantly higher percentage of unilaterally affected eyes were enucleated compared with bilaterally affected eyes; in addition, there was a decrease in the percentage of enucleations performed on both unilaterally and bilaterally affected eyes. In Interval II, 87% of unilateral patients and 91% of the bilateral patients had an enucleation performed.
J Pediatr Ophthalmol Strabismus
PMID:Changing trends in the management of retinoblastoma: 1951-1965 vs 1966-1980. 819 60

Retinoblastoma is the most common primary intraocular tumor of childhood. The most common presenting sign of retinoblastoma is leukocoria; the second most common presenting sign is strabismus. The optometrist's ability to recognize the presenting signs and symptoms of retinoblastoma can lead to early diagnosis and expeditious treatment. Treatment modalities include enucleation, radiotherapy, cryotherapy, photocoagulation, and chemotherapy. Goals of treatment include patient survival and preservation of vision. Cooperation of the optometrist, the ophthalmologist, the ophthalmic nurse, the pediatric oncologist, and the radiation therapist plays an important role in the long-term survival of these children.
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PMID:Retinoblastoma. 819 50

Combined hamartoma of the retina and retinal pigment epithelium is a rare, congenital fundus lesion which typically presents with a history of reduced acuity and/or the onset of strabismus. Clinically, the lesion is elevated, with a variably pigmented outer portion and a lighter central core of dilated tortuous vessels and gliosis. This benign lesion may be confused with more threatening conditions such as malignant melanoma or retinoblastoma. An appropriate diagnosis through clinical appearance and fluorescein angiography is imperative to prevent unnecessary enucleation. The authors report one case of combined hamartoma of the retina and retinal pigment epithelium in a patient presenting with a complaint of decreased vision.
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PMID:Combined hamartoma of the retina and retinal pigment epithelium. 824 91

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

Retinoblastoma is an uncommon but highly malignant ocular tumour of the early childhood. The delay in diagnosis following presentation at a health care facility was studied for 22 consecutive cases derived from the National Retinoblastoma Center in Sweden. Four of the children were regularly examined owing to a family history of retinoblastoma, but among the remaining 18 children the delay in diagnosis exceeded one month in five cases (including all children presenting with squint). However, there was no appreciable delay once appropriate fundus examination had been performed, thus stressing the need of early ophthalmological assessment in all cases of children manifesting signs consistent with retinoblastoma.
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PMID:[A study of children with retinoblastoma. Diagnosis is often delayed]. 864 78

Retinoblastoma (RB) is the most frequent malignant intraocular tumor in childhood. Six hundred and thirty-six cases with 831 RB-affected eyes were diagnosed and treated in our specialist center between 1963-1994. The diagnosis was made by histopathologic examination in 617 cases and clinically in 19 cases. Four hundred and forty-one (69.3%) cases were unilateral and 195 (30.7%) were bilateral. Two hundred and sixty-eight (42.1%) were females and 368 (57.9%) were males. The youngest patient was 20 days old and the oldest was 16 years old at the time of diagnosis (mean: 2.2 years). In thirty-four (5.3%) cases, a family history of RB was present. Ten of these cases were unilateral and 24 were bilateral. The most frequent presenting signs were leukocoria (394 cases, 61.9%), buphthalmos (92 cases, 14.5%), and strabismus (68 cases, 10.7%). The referring initial diagnoses were correct in 519 (81.6%) cases and false-negative in 117 (18.4%) cases. The most frequent initial false-negative diagnoses of the referring physicians were buphthalmos (43 cases, 6.8%), endophthalmitis (37 cases, 5.8%), and retinal detachment (12 cases, 1.9%). Apart from these 636 cases, there were 29 false-positive RB diagnoses during the same study period for which enucleation was performed. False-positive diagnoses included endophthalmitis (9 cases), retinal dysplasia (6 cases), retinal detachment (5 cases), vitreous hemorrhage (4 cases), Coats' disease (4 cases), and toxocariasis (one case). Ancillary testing for metastasis was carried out in all cases with newly diagnosed retinoblastoma. Five hundred and ninety-eight (72%) eyes had intraocular disease and 233 (28%) had extraocular spread. Of these 233 RBS, 58 had systemic disease. Fifty-two out of 58 tumors showing systemic involvement had either optic nerve or extrascleral extension at the histopathologic examination of enucleation material. The remaining six eyes had intraocular Class IV-V RB.
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PMID:Retinoblastoma in Turkey: diagnosis and clinical characteristics. 874 Jun 94


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