What is Spherophakia?
Introduction. Spherophakia is a rare congenital bilateral eye disorder, which presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye.
What is Weill Marchesani syndrome?
Weill Marchesani syndrome is a rare genetic disorder of connective tissue characterized by abnormalities of the lens of the eye, short stature, an unusually short, broad head (brachycephaly) and joint stiffness.
Why ectopia Lentis occurs in homocystinuria?
The disease is commonly caused by an enzymatic deficiency of cystathionine b-synthetase. FIGURE 137-9. Ectopia lentis in a patient with homocystinuria (inferior dislocation). In Weill–Marchesani syndrome, the lens dislocation is usually inferior.
What is inverse glaucoma?
2. Urbanek had coined the term inverse glaucoma to describe the pupillary block caused by miotics. Miotics cause ciliary muscle contraction, slackening the zonules, causing forward movement of the crystalline lens, thus shallowing the anterior chamber and increasing the pupillary block.
What is Micro Spherophakia?
Microspherophakia is a rare abnormality of the crystalline lens, marked by reduced equatorial diameter and increased lens thickness. The prevalence of this disorder is unknown, but it is reportedly more common in persons of Asian and North African descent.
What is low syndrome?
Collapse Section. Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts ), often with other eye abnormalities that can impair vision.
How do you treat homocystinuria?
There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). Those who do respond will need to take vitamin B6, B9 (folate), and B12 supplements for the rest of their lives. Those who do not respond to supplements will need to eat a low-methionine diet.
Can pseudoexfoliation be cured?
Nonetheless, the rate of surgical complications is higher when someone has pseudoexfoliation syndrome under any circumstances. Pseudoexfoliation syndrome cannot be prevented or cured but can be managed effectively in cooperation with your doctor.
What kind of autosomal recessive disorder is spherophakia?
Isolated spherophakia is an autosomal recessive disorder resulting from homozygous mutations in LTBP2 (13q24.1-q32.12). Parental consanguinity was present in reported families. Spherophakia is a clinically and genetically heterogeneous disorder and usually found in association with systemic findings.
What causes pain and swelling in the legs?
Venous insufficiency, chronic (leg veins with a problem returning blood to the heart) Leg swelling can also be caused by inflammation in leg joints or tissues — either a normal response to injury or disease or due to rheumatoid arthritis or another inflammatory disorder.
What causes leg pain according to Mayo Clinic?
By Mayo Clinic Staff. Most leg pain results from wear and tear, overuse, or injuries in joints or bones or in muscles, ligaments, tendons or other soft tissues. Some types of leg pain can be traced to problems in your lower spine. Leg pain can also be caused by blood clots, varicose veins or poor circulation. Some common causes of leg pain include:
What causes fluid build up in the legs?
You may often experience swelling due to fluid buildup from being overweight, being inactive, after sitting or standing for a long time, or wearing tight stockings. Factors related to fluid buildup include: Acute kidney failure. Cardiomyopathy (problem with the heart muscle) Chronic kidney disease.