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)

Squamous cell carcinoma was the most common neoplasm found in a review of case records of 21 cats with histopathologically confirmed orbital neoplasms. Other neoplasms found were lymphosarcoma, undifferentiated carcinoma, malignant melanoma, adenocarcinoma, fibrosarcoma, chondroma, and hemangiosarcoma. Three (14%) neoplasms were primary, 15 (71%) were secondary, invading the orbit from adjacent tissues, and 3 (14%) were a manifestation of multicentric disease. The most common clinical sign was exophthalmia, followed by chronic epiphora, enophthalmia, and strabismus. Mean survival time after diagnosis was 1.9 months. Ten cats were euthanatized at the time of diagnosis because of extensive disease. Mean survival time of the other 11 cats was 4.3 months. Skull radiography was helpful in diagnosing orbital neoplasms in 8 of 11 cats that had invasion of the orbit by adjacent neoplasms.
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PMID:Orbital neoplasms in cats: 21 cases (1974-1990). 142 40

A clinically benign appearing nevus was surgically excised from the conjunctiva of a 13-year-old girl because of complaints that it had recently enlarged. Histologically, the melanocytic lesion displayed considerable cytologic atypia and showed signs that were consistent with malignant transformation. Because of the rarity of conjunctival melanomas in children, the case was reviewed by several experienced pathologists and dermatopathologists whose diagnoses ranged from benign nevus with atypia to malignant melanoma. When the biologic potential of certain melanocytic lesions cannot be accurately predicted histologically, treatment and follow up must be individualized. Physicians must weigh the perceived risks and disadvantages of treating a histologically indeterminate tumor against the consequences of "under" treatment if the lesion is, in fact, biologically malignant.
J Pediatr Ophthalmol Strabismus
PMID:Borderline melanocytic tumor of the conjunctiva: diagnostic and therapeutic considerations. 195 62

Uveal malignant melanoma is uncommon both in children and in black patients. There has been only one previous report of this type of tumor occurring in a black child. This paper presents the case history of a 5-year-old black girl who presented with a mass arising from the ciliary body and choroid. This was found to be a malignant melanoma on histological examination. The difficulties in diagnosis are discussed and the histological features presented.
J Pediatr Ophthalmol Strabismus
PMID:Ciliary body malignant melanoma in a black child. 201 58

We studied by light and electron microscopy the diffuse iris nevus of an eye in a 16-year-old patient with oculodermal melanocytosis and choroidal malignant melanoma. The nevus cells in the anterior border layer of the iris appeared to be poorly differentiated, showing moderate infolding of the nuclear membrane with heterochromatin clumping, watery cytoplasm, abundant mitochondria, fine filaments, rough endoplasmic reticulum, and numerous pinocytotic vesicles. Small scattered immature melanosomes and occasional giant melanosomes were observed in these cells. Deep in the iris stroma, however, nevus cells were found singly or in small groups, and were associated with an increasing number of melanized melanosomes and cytoplasmic filaments and reduced numbers of other cytoplasmic organelles, such as mitochondria and free ribosomes. Differentiation of the iris nevus cells appeared to progress from the anterior border layer toward the iris stroma. This observation suggests that intrastromal nevi may be more benign than nevi with surface plaque. The ultrastructural characteristics of the diffuse nevi of oculodermal melanocytosis were compared with those of other iris nevi.
J Pediatr Ophthalmol Strabismus
PMID:Diffuse iris nevus in oculodermal melanocytosis: a light and electron microscopic study. 279 14

A review of 35 consecutive cases of tumors metastatic to the orbit revealed that the primary tumor site was breast in 18 cases (51%), prostate in 6 cases (17%), lung in 2 cases (6%), gastrointestinal tract in 2 cases (6%), kidney in 1 case (3%), cutaneous melanoma in 1 case (3%), contralateral choroidal melanoma in 1 case (3%), and unknown in 4 cases (11%). The most common presenting signs and symptoms included diplopia with noncomitant strabismus, proptosis, and a palpable mass. In nine cases (26%), the orbital metastasis was detected in patients with no prior history of cancer. The average patient survival after the diagnosis of orbital metastasis was 13 months. Orbital metastasis from lung carcinoma carried the worst prognosis, with an average survival time of only 4 months. A summary of the clinical features of these 35 cases and a review of the literature on orbital metastatic disease will be presented.
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PMID:Tumors metastatic to the orbit. 315 25

Large congenital melanocytic nevi (CMN) are cutaneous malformations of neural crest origin that have a notorious reputation because of their reported propensity to undergo malignant degeneration. Traditionally, complete surgical excision has been advocated based on the premise that large CMN are a precursor to melanoma. Two cases of large periocular CMN are reported to emphasize the importance of distinguishing them from other congenital skin lesions. Data from the literature support the contention that these pigmented skin lesions spawn malignancies and that prophylactic therapy may be indicated.
J Pediatr Ophthalmol Strabismus
PMID:Periocular congenital melanocytic nevi. 377 89

A healthy 6-year-old black girl presented with an asymptomatic lesion in the posterior pole of the left eye. The lesion had the classic clinical features on ophthalmoscopy and ultrasonography of a choroidal osteoma. It is important that other benign and malignant processes such as malignant melanoma, metastatic tumor, and choroidal hemangioma can simulate this benign tumor. A good clinical history and examination followed by carefully selected ancillary tests such as ultrasonography should confirm the diagnosis of choroidal osteoma. To our knowledge this case is the youngest reported case and the first black patient reported.
J Pediatr Ophthalmol Strabismus
PMID:Choroidal osteoma in a 6-year-old child. 739 15

Multiple hamartoma and neoplasia syndrome, or Cowden's disease, is a genodermatosis inherited as an autosomal dominant trait with variable expressivity. We describe a woman with classic mucocutaneous features of the syndrome: facial papules, acral keratoses, oral mucosal papillomatosis, oral polyps and scrotal tongue. As a child she had strabismus. Her family history is positive for the disease, and a sister died of malignant melanoma. The check-up revealed chronic lymphocytic thyroiditis. A checklist for use in screening patients with Cowden's disease is proposed.
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PMID:[Cowden's syndrome]. 767 86

Ocular albinism type 1 (OA1) is an X-linked recessive disorder characterized by a major impairment of visual acuity, nystagmus, strabismus, photophobia and retinal hypopigmentation. From the analysis of patients carrying deletions and translocations involving the distal short arm of the X chromosome (Xp22.3) we have identified a region of approximately 110 kb in which the OA1 gene must lie. We have extensively searched for genes in this region using a variety of techniques which included exon amplification, cDNA selection and direct hybridization of cosmid inserts to cDNA libraries. Putative exons identified by exon amplification were used to screen a human retina cDNA library and several cDNA clones corresponding to an approximately 7.5 kb transcript were isolated and characterized. Transcripts of this newly identified gene were found to be abundant in retina and melanoma and could also be detected in brain, placenta, lung, kidney and pancreas. Interestingly, sequence analysis revealed that this new gene encodes a 1616 amino acid protein sharing significant similarities with the Apical Protein from Xenopus laevis (APX) which is implicated in amiloride-sensitive sodium channel activity. The gene, termed APXL (APX-Like), spans approximately 160 kb, contains 10 exons and covers over 70% of the 110 kb critical region for OA1. A truncated pseudogene sharing very high levels of homology with the rat eIF-5 gene, a eukaryotic translation initiation factor, was found to lie in the middle of intron 1. APXL was found deleted in two patients with contiguous gene syndromes including OA1 and in one patient with isolated OA1. Mapping, expression and patient analysis data led us to consider the APXL gene a strong candidate for the OA1 gene. DNA from 57 unrelated patients with OA1 was, therefore, scanned for mutations in the coding region, using both SSCP analysis and direct sequencing. No functionally significant mutation was identified, suggesting that APXL is not directly involved in OA1. Further studies are needed to clarify the physiologic role of this highly conserved gene.
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PMID:Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. 779 90

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


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