Is Autosomal Dominant Optic Atrophy Inherited?

Yes, as the name suggests, Autosomal Dominant Optic Atrophy (ADOA) is an inherited condition ^[1]. The most common cause is a mutation in a gene called OPA1 ^[1][2]. If your ADOA is caused by this mutation, there is a 50% chance of passing the mutated gene to each of your children ^[3]. This chance is exactly the same for every pregnancy, regardless of whether the child is male or female ^[3].

How Autosomal Dominant Inheritance Works

We inherit our genes in pairs—one from each biological parent. The term autosomal dominant means:

• Autosomal: The gene is located on one of the non-sex chromosomes. Because it is not tied to the X or Y chromosomes, males and females are equally likely to inherit the mutation and pass it on ^[3].
• Dominant: You only need one copy of the mutated gene (out of the pair) to have the condition ^[1].

If your ADOA is caused by an OPA1 mutation, one copy of your OPA1 gene has a mutation, and the other copy works normally. When you have a child, you randomly pass on one of these two genes. Therefore, there is a 1 in 2 (50%) chance your child will inherit the gene with the mutation, and a 1 in 2 (50%) chance they will inherit the typical gene ^[3].

Unpredictable Symptoms

Even if a child inherits the ADOA mutation, it is difficult to predict exactly how they will be affected. The severity of symptoms can look very different from person to person, even within the same family ^[4][1].

• Vision changes typically begin during childhood ^[5][6]. Some people may have very mild vision changes, while others experience more significant vision loss ^[7][8].
• A smaller group of people with ADOA develop what is known as “ADOA plus,” which involves extra symptoms beyond vision loss, such as hearing loss, muscle weakness, or balance issues ^[9][7]. These additional symptoms vary widely, and many individuals with the OPA1 mutation will only ever experience vision changes ^[9].

Care for Existing Children

If you already have children and have recently been diagnosed, it is natural to worry about their health. Because ADOA symptoms typically begin in childhood ^[5], it is a good idea to have your children evaluated by a pediatric eye doctor (ophthalmologist).

The eye doctor can check their visual acuity and perform specialized scans of the retina and optic nerve to establish a baseline and monitor for early changes ^[10][11]. You can also discuss with a genetic counselor whether it makes sense to pursue genetic testing for your children to see if they carry the family’s specific OPA1 mutation ^[2][12].

Family Planning and Genetic Counseling

Because ADOA is passed down through families, it is highly recommended to work with a genetic counselor. A genetic counselor is a healthcare professional trained to help you understand your genetic risks and family planning options.

If you are thinking about having children and want to prevent passing on the mutated gene, your genetic counselor can discuss options such as Preimplantation Genetic Testing (PGT) ^[13].

PGT is a specialized procedure used during in vitro fertilization (IVF). It allows doctors to test embryos for the specific genetic mutation that causes ADOA before the embryo is transferred to the uterus ^[13]. In order to use PGT, the specific genetic mutation causing ADOA in your family must first be identified through genetic testing ^[2][14].

Because PGT is an advanced and sometimes costly procedure, your genetic counselor can guide you through the medical, financial, and emotional aspects to help set realistic expectations. They can also discuss other family planning options with you, ensuring you can make the choice that feels right for your family.