How rare is dominant optic atrophy?
Autosomal dominant optic atrophy (ADOA) is estimated to be the most common hereditary optic neuropathy with an estimated disease prevalence of 1:12,000 to 1:50,000.
Is optic atrophy dominant or recessive?
Autosomal dominant optic atrophy (ADOA), type Kjer, is the most common OA, whereas autosomal recessive optic atrophy (AROA) is a rare form.
Is optic atrophy a rare disease?
Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a rare syndrome that causes vision loss, hearing loss , and symptoms affecting the muscles.
Is optic atrophy progressive?
Most patients with dominant optic atrophy have no associated neurologic abnormalities, although nystagmus and hearing loss have been reported. The only symptom is slowly progressive bilateral vision loss, usually mild until late in life.
What kind of disease is Kjer’s optic atrophy?
Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy; or, Kjer’s autosomal dominant optic atrophy. Dominant optic atrophy, or dominant optic atrophy, Kjer’s type, is an autosomally inherited disease that affects the optic nerves, causing reduced visual acuity and blindness beginning in childhood.
What does it mean to have dominant optic atrophy?
(October 2009) Dominant optic atrophy, or dominant optic atrophy, Kjer’s type, is an autosomally inherited disease that affects the optic nerves, causing reduced visual acuity and blindness beginning in childhood. This condition is due to mitochondrial dysfunction mediating the death of optic nerve fibers.
Why does Kjer’s type of optic neuropathy cause blindness?
Kjer’s optic neuropathy. Dominant optic atrophy, or dominant optic atrophy, Kjer’s type, is an autosomally inherited disease that affects the optic nerves, causing reduced visual acuity and blindness beginning in childhood. This condition is due to mitochondrial dysfunction mediating the death of optic nerve fibers.
Is there a family history of optic atrophy?
Family history of similar presentation is common, but may be absent due to considerable interfamilial and intrafamilial variation in visual acuity. Thus, optic atrophy with little or no vision loss is frequently discovered in otherwise undiagnosed and “asymptomatic” family members.
