Optic Atrophy 10
Patient Information
Characteristics
Background and History
The optic nerve connects the eye to the brain, and carries visual signals from the retina that enables us to see. Consequently, any disease that damages this nerve can result in vision loss. A number of gene mutations lead to defects of such nerve conduction which may begin with damage to the nerve cells of the retina.
Clinical Correlations
Optic atrophy 10 leads to vision loss sometime in early childhood. The optic nerves appear pale. Color perception is reduced and there is often a to-and-fro jerkiness in eye movements (nystagmus). Specialized retinal testing reveals decreased responses.
Some patients have gait unsteadiness (ataxia) with learning problems and seizures. Mental retardation has been reported.
Genetics
Inheritance
This is an autosomal recessive condition resulting from the presence of two mutations, one contributed by each normal carrier parent. Such parents convey a risk of 25% of this disorder to each of their children. A brother and sister from consanguineous parents have been reported.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
Diagnosis and Prognosis
The diagnosis is usually made by an eye doctor or a neurologist. The prognosis is variable depending upon the amount of brain abnormalities. No details on the progression of vision loss are available. There is no treatment to reverse the vision loss but low vision aids may be helpful.
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