What are the other Names for this Condition? (Also known as/Synonyms)

• Cochleosaccular Degeneration with Progressive Cataracts
• Deafness Progressive Cataract Autosomal Dominant

What is Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome? (Definition/Background Information)

• Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome is an inherited disorder characterized by severe cochleosaccular degeneration leading to sensorineural hearing loss, and progressive cataract
• The condition is inherited in an autosomal dominant manner

Who gets Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome? (Age and Sex Distribution)

• Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• The exact prevalence and frequency of occurrence of this disorder are not known at the present time

What are the Risk Factors for Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome is an inherited condition
• Currently, no other risk factors have been clearly identified for this disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome? (Etiology)

• The exact genetic cause of Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome is currently unknown
• Based on the inheritance pattern, it has been reported that the disorder is transmitted in an autosomal dominant manner

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome?

The signs and symptoms of Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome may include:

• Sensorineural hearing loss
• Formation of progressive cataracts

How is Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome Diagnosed?

Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome?

The complications of Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome may include:

• Permanent hearing loss
• Impaired vision

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome Treated?

There is no cure for Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that may develop.

How can Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome be Prevented?

Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome? (Outcomes/Resolutions)

• The prognosis of Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Autosomal Dominant Progressive Sensorineural Deafness and Cataract Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/