Congenital stromal corneal dystrophy (CSCD) is an extremely rare, autosomal dominant form of corneal dystrophy. Only 4 families have been reported to have the disease by 2009. The main features of the disease are numerous opaque flaky or feathery areas of clouding in the stroma that multiply with age and eventually preclude visibility of the endothelium. Strabismus or primary open angle glaucoma was noted in some of the patients. Thickness of the cornea stays the same, Descemets membrane and endothelium are relatively unaffected, but the fibrils of collagen that constitute stromal lamellae are reduced in diameter and lamellae themselves are packed significantly more tightly. Genetics
CSCD is associated with a mutation in the gene DCN that encodes the protein decorin, located at chromosome 12q22. The disorder is inherited in an autosomal dominant manner, which indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 12 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. Diagnosis
Treatment
References
External links
GeneReviews/NCBI/NIH/UW entry on Congenital Stromal Corneal Dystrophy
Aneurysm of the aortic sinus, also known as the sinus of Valsalva, is a rare abnormality of the aorta, the largest artery in the body. The aorta normally has three small pouches that sit directly above the aortic valve (the sinuses of Valsalva), and an aneurysm of one of these sinuses is a thin-walled swelling. Aneurysms may affect the right (65–85%), non-coronary (10–30%), or rarely the left (< 5%) coronary sinus. These aneurysms may not cause any symptoms but if large can cause shortness of breath, palpitations or blackouts. Aortic sinus aneurysms can burst or rupture into adjacent cardiac chambers, which can lead to heart failure if untreated. Aortic sinus aneurysms may occur in isolation, or may been seen in association with other diseases of the aorta including Marfan syndrome, Loeys-Dietz syndrome, and bicuspid aortic valve. They can be diagnosed using an echocardiogram or cardiac magnetic resonance imaging (MRI) scan. Treatment includes blood pressure control but surgical repair may be needed, especially if the aneurysm ruptures. Symptoms and signs
If unruptured, sinus of Valsalva aneurysm (commonly abbreviated SVA or SOVA) is usually asymptomatic and typically goes undetected until symptoms appear or medical imaging is performed for other reasons. If symptoms do occur, the most common are shortness of breath, palpitations, myocardial ischemia, and syncope.