Usher syndrome type II characterized by:
Usher syndrome type III characterized by:
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of retinal pigmentation||0007703|
Poor night vision[ more ]
|Progressive visual loss||
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive[ more ]
|Sensorineural hearing impairment||0000407|
|Visual field defect||
Partial loss of field of vision
|30%-79% of people have these symptoms|
Clouding of the lens of the eye
Cloudy lens[ more ]
Abnormality of cognition
Mental impairment[ more ]
Severe long-sightedness[ more ]
Nearsightedness[ more ]
|5%-29% of people have these symptoms|
|Abnormality of cardiovascular system physiology||0011025|
|Abnormality of dental color||
Abnormality of tooth color
Abnormality of tooth shade[ more ]
|Abnormality of dental enamel||
Abnormal tooth enamel
Enamel abnormality[ more ]
Excessive, persistent worry and fear
|Aplasia/Hypoplasia of the cerebellum||
Absent/underdeveloped cerebellum[ more ]
Abnormal curving of the cornea or lens of the eye
Tooth decay[ more ]
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
Sensory hallucination[ more ]
Enlarged and thickened heart muscle
Decreased width of tooth
Muscle tissue disease
Involuntary, rapid, rhythmic eye movements
Ringing in ears
Ringing in the ears[ more ]
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include oculo-acoustic syndromes associated with mitochondrial DNA mutations (MIDD, Kearns-Sayre syndrome), and, more rarely, Refsum disease and moderate forms of Alström syndrome (see these terms).
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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How is Usher syndrome inherited? What is the gene for Usher syndrome? See answer
Since Usher syndrome is a ciliopathy, will my daughter who has it exhibit symptoms of other ciliopathies? She has many chronic health problems including irregular menstrual cycles, migraine headaches, and obesity. See answer