The mutation is in exon 11 of the gene, and is labelled R594H; this means that the codon (the code for an amino acid molecule) for arginine was erroneously substituted by a codon for histidine at position 594 in that exon. This same mutation in the TRVP4 gene is known to cause the Kozlowski type of spondylometaphyseal dysplasia.Parastremmatic dwarfism is inherited in an autosomal dominant manner, which means that the defective gene responsible for the disease is located on an autosome (chromosome 12 is an autosome), and one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who also has the disorder.Parastremmatic Dwarfism results from mutations within the N-ankyrin domain of TRPV4, which has been identified to be involved in regulation of the TRPV4 calcium ion channel. This influx of calicum may be responsible for neuronal cell death, as well as affecting levels of circulating growth hormones.Parastremmatic Dwarfism is a very rare disorder, and as of 2011, only 5 people were diagnosed worldwide. As such, functional analysis has proved elusive at this time. Diagnosis
Treatment
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Aflibercept, sold under the brand names Eylea and Zaltrap, is a medication used to treat wet macular degeneration and metastatic colorectal cancer. It was developed by Regeneron Pharmaceuticals and is approved in the United States and the European Union.It is an inhibitor of vascular endothelial growth factor (VEGF). Medical uses
It is used for the treatment of wet macular degeneration and is administered as an intravitreal injection, that is, into the eye. For cancer treatment, is given intravenously in combination with the other cancer drugs 5-fluorouracil and irinotecan and the adjuvant folinic acid.On 27 August 2014, Eylea was also indicated for the treatment of people with visual impairment due to diabetic macular oedema, according to the updated summary of product characteristics. In May 2019 FDA expanded the indication for aflibercept to include all stages of diabetic retinopathy. Contraindications
Eylea is contraindicated in patients with infections or active inflammations of or near the eye, while Zaltrap has no contraindications. Adverse effects
Common adverse effects of the eye formulation include conjunctival hemorrhage, eye pain, cataract, vitreous detachment, floaters, and ocular hypertension.Zaltrap has adverse effects typical of anti-cancer drugs, such as reduced blood cell count (leukopenia, neutropenia, thrombocytopenia), gastrointestinal disorders like diarrhoea and abdominal pain, and fatigue. Another common effect is hypertension (increased blood pressure). Interactions
No interactions are described for either formulation. Mechanism of action
In wet macular degeneration, abnormal blood vessels grow in the choriocapillaris, a layer of capillaries in the eye, leading to blood and protein leakage below the macula.