Multisystemic eosinophilic epitheliotropic disease is rare in horses, and usually chronic. In the current case the horse showed an apparently acute onset with high fever and rapid clinical deterioration. A diagnosis of MEED should be considered in horses presenting with weight loss and skin lesions with or without fever. A final diagnosis is based on histological results of biopsy specimens from affected organs.
Intraocular medulloepithelioma is a relatively rare tumour in horses which is difficult to differentiate from retinoblastoma. The rate of growth of this tumour has not been investigated so far. We present a case of a primary intraocular teratoid malignant medulloepithelioma in a four-year-old gelding that was unilaterally blind at presentation. Repeated examination revealed rapid growth of the tumour. After enucleation of the affected eye, the horse returned to its former level of performance without recurrence for 12 months postoperatively. The histological and immunohistochemical examination of the mass clearly confirmed the malignancy of the tumour. Clinicians should be aware of the potential malignant behaviour of intraocular neoplasias. Immunohisto chemistry plays an important role in the final diagnosis
We investigated a hereditary syndrome in Cane Corso dogs. Affected dogs developed dental-skeletal-retinal anomaly (DSRA), clinically characterized by brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss. Combined linkage and homozygosity mapping delineated a 5.8 Mb critical interval. The comparison of whole genome sequence data of an affected dog to 789 control genomes revealed a private homozygous splice region variant in the critical interval. It affected the MIA3 gene encoding the MIA SH3 domain ER export factor 3, which has an essential role in the export of collagen and other secreted proteins. The identified variant, XM_005640835.3:c.3822+3_3822+4del, leads to skipping of two exons from the wild type transcript, XM_005640835.3:r.3712_3822del. Genotypes at the variant were consistent with monogenic autosomal recessive mode of inheritance in a complete family and showed perfect genotype-phenotype association in 18 affected and 22 unaffected Cane Corso dogs. MIA3 variants had previously been shown to cause related phenotypes in humans and mice. Our data in dogs together with the existing functional knowledge of MIA3 variants in other mammalian species suggest the MIA3 splice defect and a near complete loss of gene function as causative molecular pathomechanism for the DSRA phenotype in the investigated dogs.
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