Most cases of SNHL present with a gradual deterioration of hearing thresholds occurring over years to decades. In some, the loss may eventually affect large portions of the frequency range. It may be accompanied by other symptoms such as ringing in the ears (tinnitus) and dizziness or lightheadedness (vertigo). The most common kind of sensorineural hearing loss is age-related (presbycusis), followed by noise-induced hearing loss (NIHL). Frequent symptoms of SNHL are loss of acuity in distinguishing foreground voices against noisy backgrounds, difficulty understanding on the telephone, some kinds of sounds seeming excessively loud or shrill, difficulty understanding some parts of speech (fricatives and sibilants), loss of directionality of sound (especially with high frequency sounds), perception that people mumble when speaking, and difficulty understanding speech. Similar symptoms are also associated with other kinds of hearing loss; audiometry or other diagnostic tests are necessary to distinguish sensorineural hearing loss. Identification of sensorineural hearing loss is usually made by performing a pure tone audiometry (an audiogram) in which bone conduction thresholds are measured. Tympanometry and speech audiometry may be helpful. Testing is performed by an audiologist. There is no proven or recommended treatment or cure for SNHL; management of hearing loss is usually by hearing strategies and hearing aids. In cases of profound or total deafness, a cochlear implant is a specialised hearing aid that may restore a functional level of hearing.
Chromosomal analysis is necessary for definitive diagnosis. Other common eye defects include cataracts and ptosis. About 50% of people develop Wilms tumour. Pathophysiology
WAGR syndrome is caused by a mutation on chromosome 11 in the 11p13 region. Specifically, several genes in this area are deleted, including the PAX6 ocular development gene and the Wilms tumour gene (WT1). Abnormalities in WT1 may also cause genitourinary anomalies. Mutations in the PAX6 gene have recently been shown to not only cause ocular abnormalities, but also problems in the brain and pancreas.The gene for brain-derived neurotrophic factor (BDNF), located on 11p14.1, has been proposed as a candidate gene for the obesity and excessive eating in a subset of WAGR patients. This strengthens the case for a role for BDNF in energy balance. Diagnosis
Diagnosis for WAGR syndrome can be made by confirming microdeletion of 11p13 utilizing FISH (fluorescent in situ hybridization), the primary method of choice for diagnosis. FISH which will demonstrate a lack of a fluorescent signal coordinating to the specific location of the gene. Treatment
Children with WAGR syndrome receive regular (3-4 yearly) kidney surveillance for Wilms tumour until at least the age of 6–8 years and thereafter remain under some follow-up because of the risk of late onset nephropathy (40% of patients with WAGR Syndrome over the age of 12 years). Females with WAGR syndrome may have streak ovaries, which can increase the risk for gonadoblastoma. Malformations of the vagina and/or uterus may also be present. See also
Denys–Drash syndrome

References
External links

DECIPHER database entry for WAGR syndrome