![]() ![]() Variants (also known as mutations) in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. Type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation. In addition, hearing loss occurs more often in people with type II than in those with type I. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. There are four recognized types of Waardenburg syndrome, which are distinguished by their physical characteristics and sometimes by their genetic cause. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. ![]() Sometimes one eye has segments of two different colors. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. The hearing loss is present from birth (congenital). Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The advantage of ERG is that the test will show abnormal results even before the retinal cells actually perish.Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. In those with RP or Usher syndrome, ERG would be reduced or absent, although it may yet be normal in children. ERG uses electrode rays, therefore the procedure is done in children under general anesthesia, while in adults, application of topical medications is the norm. These retinal changes can be seen only after symptoms of Usher syndrome set in and not before.Ī more specific test for RP is an electroretinogram (ERG), which is an evoked response from the retinal rods and cones. Testing for eye problems is initially done through direct examination of the retina by an ophthalmologist, who is likely to discover a waxy pallor, attenuated blood vessels and groups of dead retinal cells (bone spicules). The delayed expression of vision-related problems remains a challenge in diagnosing and dealing with the disease. RP results from a vital protein being either absent or abnormal. The blindness associated with Usher syndrome is due to Retinitis pigmentosa (RP), which is a condition affecting the eye leading to vision loss over time. It is very important for professionals to understand the differences between the different types of Usher syndrome individuals and to realize that with time, the lines demarking the types change. Type III- These individuals are born with normal hearing, have a fairly normal balance but eventually develop vision impairment and, later, hearing loss.Vision impairment too is slow to develop it starts in the teens and progresses much more slowly than in type I Type II- In these individuals, the hearing loss is moderate to severe but they have no issues with balance.Vision impairment develop by age 10, eventually leading to blindness Type I- These individuals are born deaf and they experience severe problems in maintaining balance right from childhood.Usher syndrome can be categorized into three types. This rare condition is inherited in an autosomal recessive manner and the parents usually do not usually suffer from the same condition, though they do possess the defective genes. The word ‘syndrome’ is used because hearing loss is accompanied by other defects too.Īlthough of late, it has been made possible to diagnose a vast number of syndromes, there is always a great deal of delay in diagnosing Usher syndrome. The exact prevalence of Usher syndrome is not known although researchers have estimated it to be around 17% of all deaf individuals. Usher syndrome got its name in 1914 from the British ophthalmologist Charles Usher. An audiologist is often their most frequent contact. They often take important and critical decisions regarding communications, interventions and educational options without being aware of the visual loss that is in store for the child. Therefore, the parents who do not know that their child, besides being deaf, will eventually be blind too, start preparing to manage hearing loss even when the child is as young as four months. Deafness is the first impairment to be identified in a child with Usher syndrome. ![]()
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