OMIM ID:
Optic Atrophy 4
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
This form of optic atrophy is clinically heterogeneous similar to others. It is less common than OPA1 (165500). Visual acuity ranges from normal to 6/200. Individuals that carry the mutation usually have some degree of bilateral optic disc pallor and dyschromatopsia even in the presence of 20/20 acuity. This profile is present in the first decade of life in some patients with most experiencing acute or subacute loss of vision between the ages of 18 and 35 years. Vision loss is progressive in the majority of patients but unpredictable with some experiencing rapid decline whereas others have only a slow decline. Age and visual acuity are not strongly correlated but in general older individuals have worse acuity.
Systemic Features
There are no systemic findings in OPA4.
Genetics
Inheritance
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission