Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Moyamoya is a cerebrovascular angiopathy characterized by a progressive stenosis of the terminal part of the intracranial carotid arteries and the compensatory development of abnormal and fragile collateral vessels, also called moyamoya vessels, leading to ischemic and hemorrhagic stroke. Moyamoya angiopathy can either be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions, including neurofibromatosis, Down syndrome, TAAD (autosomal-dominant thoracic aortic aneurysm), and radiotherapy of head tumors (moyamoya syndromes). Its prevalence is ten times higher in Japan than in Europe, and an estimated 6%-12% of moyamoya disease is familial in Japan. The pathophysiological mechanisms of this condition remain obscure. Here, we report on three unrelated families affected with an X-linked moyamoya syndrome characterized by the association of a moyamoya angiopathy, short stature, and a stereotyped facial dysmorphism. Other symptoms include an hypergonadotropic hypogonadism, hypertension, dilated cardiomyopathy, premature coronary heart disease, premature hair graying, and early bilateral acquired cataract. We show that this syndromic moyamoya is caused by Xq28 deletions removing MTCP1/MTCP1NB and BRCC3. We also show that brcc3 morphant zebrafish display angiogenesis defects that are rescued by endothelium-specific expression of brcc3. Altogether, these data strongly suggest that BRCC3, a deubiquitinating enzyme that is part of the cellular BRCA1 and BRISC complexes, is an important player in angiogenesis and that BRCC3 loss-of-function mutations are associated with moyamoya angiopathy.
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PMID:Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. 2159 66

Moya Moya Disease (MMD) is characterised by idiopathic vasculopathy affecting the terminal internal carotid arteries resulting in the formation of extensive collaterals at the base of the brain, leptomeninges and parenchymal regions with resultant infarcts and bleeds. Four children presented with clinico-radiological features suggestive of Moyamoya disease/syndrome. This includes global developmental delay, recurrent seizures, transient ischaemic attacks and impaired vision. The first patient had vision of 6/15 in both eyes with bilateral optic disc pallor. Second case also had bilateral optic disc pallor with arteriolar attenuation, but had vision of perception of light only in both eyes. The third child had vision of 6/60 with alternate divergent squint and clinical features suggestive of Neurofibromatosis 1 (NF 1). Fourth patient presented with poor fixation in both eyes with bilateral total cataract. He underwent bilateral cataract surgery with intraocular lens implantation and vision improved to 2/60 with good fixation. We also describe their medical and neurosurgical interventions in this report.
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PMID:Ocular Features and Visual Outcome in Children with Moyamoya Disease and Moyamoya Syndrome: A Case Series. 2743 59