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)

The frequency of genetic eye diseases in a genetic counseling center: In this study the incidence of eye diseases of genetic origin in patients attending our genetic counseling center for a period of almost six years is documented. The frequency of retinitis pigmentosa, congenital cataracts, lens dislocation, microphthalmos, retinoblastoma, congenital glaucoma, congenital ptosis, degenerative myopia, strabismus, optic atrophy, various genetic metabolic diseases have been investigated, and the results are presented. Preventive approaches and prenatal diagnostic possibilities are discussed and the importance of genetic counseling is emphasized.
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PMID:The frequency of genetic eye diseases in a genetic counseling center. 877 20

We review the genetics of retinoblastoma and the most recent molecular detection methods. Retinoblastoma, the most common intraocular tumor in children, occurs in either a heritable or non-heritable form. The heritable form, which is highly penetrant and predisposes individuals to a considerably greater second tumor risk, can be distinguished most definitively through the use of genetic testing. Genetic testing for individuals and families suspected of carrying the heritable mutations can help ensure that more comprehensive treatment plans and accurate genetic counseling for affected individuals and their families are provided.
J Pediatr Ophthalmol Strabismus
PMID:The genetics of retinoblastoma and current diagnostic testing. 896 36

A retrospective chart review was performed on the charts of 1265 patients with retinoblastoma who were on file at New York Hospital and whose conditions had been diagnosed between the years 1960 and 1990. The mean follow-up was 90 months, ranging from 0 to 409 months. Thirty-two distinct presenting signs of retinoblastoma were identified, the most common of which were leukocoria (56.2%), strabismus (23.6%), poor vision (7.7%), and family history (6.8%). No correlation was found between any of the presenting signs and laterality, sex, race, or survival. Leukocoria correlated to Reese-Ellsworth Group Va or Vb, whereas strabismus was invariably associated with either macular tumors or macular retinal detachments. Eighty-three (96.5%) patients presenting with a family history did so before the age of 24 months. The presenting sign leading to a diagnosis of retinoblastoma was correlated with degree of advancement and tumor location. Leukocoria and strabismus are the most common presenting signs, with leukocoria correlated to more advanced disease and strabismus always associated with macular involvement. Vitreous hemorrhage (1 case, 0.1%), microphthalmos (4 cases, 0.3%), and orbital cellulitis (3 cases, 0.2%) are extremely rare presenting findings in retinoblastoma.
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PMID:Presenting signs of retinoblastoma. 954 9

The study of the therapy of 57 patients with retinoblastoma and their 30-year follow-up a very significant problem of the delayed assessment of the diagnosis in this disease. The age of patients at the point of assessment of the diagnosis was delayed in average for 3 months after the appearance of first symptoms being especially leucocoria and strabismus, in hereditary Rb it yielded 10 months and in non-hereditary 36 months. The study emphasizes the risks of achieving lower therapeutic success rates and higher lethality in patients in very advanced stages of the disease. An improvement in parental care is assumed to represent a significant preventive measure against the late assessment of the diagnosis. The authors suggest an improvement in erudition of regional paediatrists together with fast provision of clinical care with the use of all diagnostic and therapeutic possibilities provided by modern medicine. (Fig. 4, Ref. 6.)
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PMID:[Risks in late diagnosis of retinoblastoma and their prevention]. 967 40

The management of retinoblastoma has gradually changed over the past few decades. There is a trend away from enucleation and external beam radiotherapy toward focal conservative treatments. This is primarily because of earlier detection of the disease and more focused treatment modalities. Enucleation is still employed for retinoblastoma that fills most of the eye, especially when there is a concern for tumor invasion into the optic nerve or choroid. After enucleation, an integrated orbital implant, provides improved motility and appearance of the prosthesis. External beam radiotherapy continues to be an important method of treating less advanced retinoblastoma, especially when there is diffuse vitreous or subretinal seeding. Plaque radiotherapy is useful for controlling small- to medium-sized retinoblastomas, even those with focal vitreous seeds. Tumors that recur after failure of other methods are often suitable for plaque treatment. When plaque radiotherapy is employed in a child receiving chemotherapy, eventual radiation retinopathy can occur. Cryotherapy and photocoagulation provide excellent control of selected small tumors. Advanced laser delivery systems, particularly those that have been adapted to the indirect ophthalmoscope, have facilitated the visualization for treatment of tumors. Thermotherapy is the newest focal method for retinoblastoma. When combined with chemotherapy, thermotherapy provides satisfactory tumor control, leaving the child with a reasonably small scar, thus preserving more vision. Chemoreduction, using intravenous or subconjunctival routes, is often employed to reduce initial tumor volume and thus allow for focal treatment to eradicate the residual smaller tumor. Many children with advanced retinoblastoma can be spared external beam radiotherapy and enucleation mostly as a result of chemoreduction and focal methods. Chemoreduction combined with cryotherapy, thermotherapy, and plaque radiotherapy plays an important role in the current management of many children with retinoblastoma.
J Pediatr Ophthalmol Strabismus
PMID:Recent developments in the management of retinoblastoma. 997 9

Early and accurate detection of eye disorders in children can present a challenge for family physicians. Visual acuity screening, preferably performed before four years of age, is essential for diagnosing amblyopia. Cover testing may disclose small-angle or intermittent strabismus. Leukocoria, which is detected with an ophthalmoscope, may indicate retinoblastoma or cataract. Children with glaucoma may have light sensitivity and enlargement of the cornea, and conjunctivitis that does not respond quickly to treatment may reflect more serious ocular inflammation. Children with serious eye injuries often present to the primary care physician. Nystagmus and many systemic conditions are associated with specific eye findings.
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PMID:Commonly missed diagnoses in the childhood eye examination. 1152 61

Retinoblastoma is the most frequently occurring primary intraocular malignant tumour in children (12-15 new patients per year in the Netherlands). It occurs in one or two eyes. Bilateral retinoblastoma, which occurs in 40% of the cases, is always hereditary; unilateral retinoblastoma, which is found in 60% of cases, is hereditary in 10% of these cases. The presenting symptoms are: leucocoria, strabismus or a red, painful eye. Early detection of retinoblastoma is important for the chance of survival, the visual prognosis and preservation of the eye. The choice of treatment is based on the risk of metastases, the diameter and the location of the tumour, the age of the patient, the heredity and the visual prognosis. Nowadays, treatment more often consists of a combination of techniques. Enucleation is carried out when a large tumour fills over half of the globe; often this is the only possible treatment. Small tumours (diameter and thickness < 2 mm) in the centre of the retina can be treated with laser therapy and those in the peripheral retina by cryotherapy. Small to medium-sized tumours (< 8 mm diameter) can be treated with thermochemotherapy: systemic chemotherapy and laser hyperthermia, if necessary with adjuvant laser therapy or brachytherapy. Medium-sized tumours (< 8 mm thick) can be treated with just brachytherapy, sometimes preceded by chemoreduction.
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PMID:[Intraocular retinoblastoma: new therapeutic options]. 1172 14

The damage of the eye is one of the clinical syndromes of the Toxocara infection, caused by the migration activity of the Toxocara canis and Toxocara cati larvae. Ocular larva migrans (OLM) lesions mostly occur unilaterally and frequently are diagnosed as retinoblastoma. The typical symptoms of OLM are presented in our publication. The first signs of the ocular infection most often include diminished vision, leukocoria, red eye and strabismus. Inflammatory intraocular reaction, caused as a response to the antigens, released from dead or dying larvae is often diagnosed. The living larvae are observed very rarely. The reason and a way of the ocular invasion are still not sufficiently cleared. The supposition that the ocular syndrome is caused by migration of single larvae, when the immunological response is light, was not reliably verified. Sometimes if the infection size was heavy, the eye can be invaded with systemic complications as well. The most common laboratory findings include an elevation of the immunoglobulins in the serum of the patient and the presence of Toxocara specific antibodies response in the vitreous and/or aqueous humor. An analysis of the humor in cases of presumptive OLM was made only in 8 patients because not all oculists are ready to take this material, mainly in children. Highly sensitive assay--ELISA reaction with specific excretory-secretory antigen (TES) was used. For discrimination between chronic and recent infection the method of measuring IgG avidity was applied.
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PMID:[The ocular form of larval toxocariasis in the Czech Republic]. 1204 49

It is important that retinoblastoma is considered as a possible diagnosis in all children presenting with a white reflex in the pupil. A constant unilateral strabismus with poor visual acuity is the next common method of presentation. Heritable tumours are more likely to be bilateral and occur earlier. Unilateral retinoblastomas present on an average at 24 months of age while bilateral disease at 12 months. The management of retinoblastoma had been revolutionised over the last decade. The introduction of gene testing in relatives with a known germ-line mutation has simplified follow-up. The early detection of small and medium sized tumours has lent itself to focal treatment with laser therapy. Chemoreduction followed by focal laser or cryotherapy can salvage eyes with large tumours. Thermotherapy reduces the amount of scarring associated with other modalities of focal treatment. Radiation in the form of brachytherapy or teletherapy is largely limited to tumours resistant to other forms of treatment due to the risk of local complications and the higher risk of secondary cancers in the field of radiation.
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PMID:Retinoblastoma: clinical features and current concepts in management. 1507 98

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


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