Stickler's Syndrome Research Paper

Stickler's Syndrome

Stickler's Syndrome is a connective tissue disorder that causes problems with vision, hearing, bones, and joints.

Stickler's Syndrome was named after Dr. Gunnar B. Stickler. In 1960, a 12 year old boy was analyzed at Mayo Foundation in Minnesota. The boy had expansions of quite a few of the joints, he was also very short sighted. His mother also had a problem, she was blind. Dr. Stickler founded that other members of this family had similar symptoms. This made Stickler very determined, so he did a five year study on this family, to figure out this condition. The conclusions were published in June of 1965. Gunnar named this condition Hereditary Progressive Artho-Ophthalmology, now known as Stickler's Syndrome(“Stickler's
All of the variables of phenotypic of Stickler's Syndrome are: inter familial variability, and families. Inter familial variability is explained by locus and allelic heterogeneity(Verma). This syndrome can reform itself differently within families(Wilson).In cases, if one may have Stickler's Syndrome, and your spouse or partner may not, your child will have a 50% probability of getting this condition. Almost never, people that have Stickler's Syndrome may not even inherit a mutant gene. If that happens, Stickler's Syndrome results from an accidental mutation in a few genes. Researchers have found four different types of mutations: COL2A1, COL9A1, COL11A1, and COL11A2 genes that cause Stickler. Genes are portions of DNA that are for all of the characteristics: eye color, and even propnsity to get high cholesterol. When the Syndrome is affected by the mutations in COL9A1 gene, it is aquired in an Autosomal Recessive pattern. When some gene pairs can be made up of a single dominant gene and one recessive gene. In this case, the outcome of a dominant gene is over the recessive gene. This is what an Autosomal dominant inheritance is. When the dominant gene is mutated in Stickler's Syndrome, a disease may occur. The parents of an individual that has an Autosomal Recessive trait, both carry a copy of the gene, however, it really does not show assurance and symptoms of this trait. All of these genes are
Some symptoms may append myopia, cataracts, and retinal detachment(Verma). People with Stickler's Syndrome, have uncompromising nearsightedness, which is very high myopia. In some of the types of Stickler's Syndrome, the transparent gel that fills the eye, has an aberrant appearnace, which anyone could see with the naked eye(“Stickler's Syndrome”). Other problems may include cloudynedd of the eye, which cataracts, and when the very thin layer of tissue toward the back of the eye retrains from its nourishing collection of blood vessels, which is retinal detachment(Verma).Another disorder of the eye is called Glaucoma. This is when there is pressure is enhanced within your eyeball. The more pressure it has, it will eventually pinch a nerve that transmits the signal of sight from the retina to the brain, which could eventually turn into blindness. An Additional feature of Stickler's Syndrome is hearing loss, which s both conductive and sensorineural(Wilson). This could actually cause deafness. When doctors want to determine if their patient has hearing loss, they do a test called an audiogram. This measures the ability to discover a multiple of pitches of volumes and sounds. Another one is skeletal abnormalities, in other words, excessive joint flexibilility. Joint flexibility is when one is able to extend their arms and legs to a point where it is out of the range of motion that is