Rubinstein-Taybi Syndrome this website is a very rare form of cataract which occurs due to the premature closure of the posterior uvea or toenail. Rubinstein-Taybisha Syndrome is also known as RSTS or syndrome without vision.
Rubinstein-Taybisha syndrome (RTTS) is classified into four groups. The group I classification involves an inherited predisposition in the form of genetic abnormalities in the ophthalmic system. The second group is characterized by congenital defects of the ophthalmic system caused by abnormalities in the retina or eye tissues. The third category is characterized by developmental disorders of the central nervous system causing the optic nerve to degenerate, and the last group includes developmental disorders of the central nervous system caused by defects in the cerebellum.
Rubinstein-Taybisha syndrome is caused by defects in the eye itself. The ophthalmic system consists of three layers: the ciliary body, choroid, retinal ganglion, optic tract, and vitreous humor. These structures work together to produce clear and accurate images of the eye. When these structures are damaged due to trauma, infection, or aging, the eyes no longer function as they should. Rubinstein-Taybisha syndrome is a disorder which causes an abnormal development of the retinal, choroid, or optic tracts and results in vision loss. In some cases, the visual impairment may lead to partial or total blindness, but it is a progressive disease.
Rubinstein-Taybisha syndrome is usually inherited in an autosomal recessive fashion. The inherited trait determines whether one of the affected person’s parents will develop the disorder. The dominant gene carries the inherited trait and can be passed on to either of the affected person’s children. A dominant gene is a trait that will be inherited from both parent’s genes; a recessive trait will be inherited from only one gene.
A common type of Rubinstein-Taybisha syndrome is known as RST. It is also known as RST-I syndrome and has no known causes. Although no definitive cause has been identified, it is suspected to be caused by X-linked inheritance.
Rubinstein-Taybisha syndrome is very difficult to diagnose and therefore is usually diagnosed with cataract surgery. or ophthalmology. In RST, the affected person usually has no cataracts and poor eyesight; however, he or she may have some peripheral vision loss. Rubinstein-Taybisha syndrome is a progressive disease and most people diagnosed with it become blind within their first year of age. Cataract surgery is a common treatment for RST and it generally improves the vision of the patient.