Diagnosis
Diagnosis is made based on features as well as by the very early onset of serious eye and ear disease. Because Marshall syndrome is an autosomal dominant hereditary disease, physicians can also note the characteristic appearance of the biological parent of the child. A genetic test can be performed in  Stickler syndrome diagnosis is made by doing a genetic test for the several collagen genes as well as other genes that are associated with Stickler as well as considering the presence and severity of Spondyloepiphyseal Dysplasia with association of reduced height and growth rate as well as other connective tissue features like skin hyperextensibility and poor wound healing. It is an area of active research, also the genetic testing being expensive supports that the diagnosis is made depending on the features. Treatment
There is no medical treatment for either syndrome but there are some recommendations that can help with prevention or early identification of some of the problems. Children with either syndrome should have their hearing tested, and adults should be aware that the hearing loss may not develop until the adult years. Yearly visits to an ophthalmologist or other eye care professional who has been informed of the diagnosis of Stickler or Marshall syndrome is important for all affected individuals. Children should have the opportunity to have myopia corrected as early as possible, and treatment for cataracts or detached retinas may be more effective with early identification.
Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar Fehr (1871-1959), is a rare pathological condition affecting the stroma of cornea. The first signs are usually noticed in the first decade of life, and progress afterwards, with opacities developing in the cornea and attacks of pain. The condition was first described by Arthur Groenouw in 1890. Signs and symptoms
Onset occurs in the first decade, usually between ages 5 and 9. The disorder is progressive, vision changes with ageing from 2nd decade to 3rd visual impairment may seen in 4th and 5th decade severe visual impairment can be seen Minute, gray, punctate opacities develop. Corneal sensitivity is usually reduced. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. Macular corneal dystrophy is very common in Iceland and accounts for almost one-third of all corneal grafts performed there. Genetics
Macular corneal dystrophy is inherited in autosomal recessive fashion and is thought to be caused by the lack or abnormal configuration of keratan sulfate. Most cases of MCD are caused by mutations in CHST6 gene.The gene CHST6 is a carbohydrate sulfotransferase encoding an enzyme designated corneal N-acetylglucosamine-6-sulfotransferase. In MCD type I, various mutations lead to inactivation of the enzyme, in MCD type II, inactivation is caused by large deletions and/or replacements in the gene. Diagnosis
Treatment
Corneal transplantation is often required. See also
Corneal dystrophy

References


== External links ==