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)

Intraocular tumours may be benign or malignant. The latter are more numerous, and endanger not only vision but life as well. Two of them deserve special attention: melanoma malignum oculi in adults and retinoblastoma in children. Melanoma malignum may arise from all three areas of the uvea: the iris, the ciliary body and the choroid. The more malignant growths are those which are situated closer to the posterior pole. Histologically the epitheloid cell-type of melanoma is more malignant than those containing only spindle cells. Their treatment depends on the size: in the case of large tumours enucleation is required, while for the smaller ones, radiation therapy can be applied. Retinoblastoma is most common in children of 1-2 years of age. It has familial and sporadic forms. Sixty-seven percent of the inherited-type cases are bilateral. An early symptom in small children is strabismus. A white tissue mass growing into the vitreous is seen on the fundus. A diagnostic feature that can be detected by ultrasound examination is calcification. The tumour may also present intracranially, therefore CT of the skull should be performed in each case. Histologically the tumour contains malignant neuroepithelial cells, which may form a rosette. In the case of large tumours the treatment is enucleation; in bilateral processes the bulbus with the larger mass is removed and the other eye is treated with radiation therapy. In both cases chemotherapy is used according to a prescribed schedule. Metastases to the eye occur most frequently from carcinomas of the breast, lungs or gastrointestinal tract. These are treated with radiotherapy, chemotherapy and hormone therapy. Primary intraocular lymphoma often occurs bilaterally, and may be accompanied by primary lymphoma of the central nervous system (CNS). Some benign tumours are found by chance on routine eye examinations, others due to subjective and objective symptoms.
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PMID:[Intraocular tumours]. 1590 27

Skin pigmentation is a highly heterogeneous trait with diverse consequences worldwide. SLC24A5, encoding a potent K+ -dependent Na+ /Ca2+ exchanger, is among the known color-coding genes that participate in melanogenesis by maintaining pH in melanosomes. Deficient SLC24A5 activity results in oculocutaneous albinism (OCA) type 6 in humans. In this study, by utilizing a exome sequencing (ES) approach, we identified two new variants [p. (Gly110Arg) and p. (IIe189Ilefs*1)] of SLC24A5 cosegregating with the OCA phenotype, including nystagmus, strabismus, foveal hypoplasia, albinotic fundus, and vision impairment, in three large consanguineous Pakistani families. Both of these variants failed to rescue the pigmentation in zebrafish slc24a5 morphants, confirming the pathogenic effects of the variants. We also phenotypically characterized a commercially available zebrafish mutant line (slc24a5ko ) that harbors a nonsense (p.Tyr208*) allele of slc24a5. Similar to morphants, homozygous slc24a5ko mutants had significantly reduced melanin content and pigmentation. Next, we used these slc24a5ko zebrafish mutants to test the efficacy of nitisinone, a compound known to increase ocular and fur pigmentation in OCA1 (TYR) mutant mice. Treatment of slc24a5ko mutant zebrafish embryos with varying doses of nitisinone did not improve melanin production and pigmentation, suggesting that treatment with nitisinone is unlikely to be therapeutic in OCA6 patients.
Pigment Cell Melanoma Res 2020 07
PMID:Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6. 3227 88