Kjer's optic neuropathy
Kjer's Optic Neuropathy
Kjer's Optic Neuropathy (pronounced: kyerz op-tik neu-rop-uh-thee) is a rare, genetic eye disorder that primarily affects the optic nerves. The condition is named after the Danish ophthalmologist, Poul Kjer, who first described it in 1959.
Etymology
The term Kjer's Optic Neuropathy is derived from the name of the Danish ophthalmologist, Poul Kjer, who first described the condition. The term "optic neuropathy" comes from the Greek words "opsis" meaning "view", "neuron" meaning "nerve" and "pathos" meaning "disease".
Definition
Kjer's Optic Neuropathy is a type of optic neuropathy that is characterized by the progressive loss of vision starting in early childhood. It is caused by mutations in the OPA1 gene and is inherited in an autosomal dominant manner.
Symptoms
The primary symptom of Kjer's Optic Neuropathy is a progressive loss of visual acuity that begins in early childhood. Other symptoms may include nystagmus, strabismus, and color vision deficiency.
Diagnosis
Diagnosis of Kjer's Optic Neuropathy is based on clinical examination, family history, and genetic testing. The electroretinogram (ERG) and optical coherence tomography (OCT) can also be used to confirm the diagnosis.
Treatment
There is currently no cure for Kjer's Optic Neuropathy. Treatment is focused on managing symptoms and may include low vision aids, occupational therapy, and counseling.
See Also
- Optic Neuropathy
- OPA1
- Autosomal Dominant
- Nystagmus
- Strabismus
- Color Vision Deficiency
- Electroretinogram
- Optical Coherence Tomography
- Low Vision Aids
- Occupational Therapy
- Counseling
External links
- Medical encyclopedia article on Kjer's optic neuropathy
- Wikipedia's article - Kjer's optic neuropathy
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