Short answer · Medically reviewed summary · Last updated: 2026-05-08

Choroideremia is an X-linked recessive genetic disorder, meaning it is hereditary and passed through families on the X chromosome. Because it is a genetic condition caused by mutations in the CHM gene, it is inherited rather than acquired, and it typically affects males much more severely than females. How is Choroideremia inherited? Choroideremia follows an X-linked recessive inheritance pattern.

Is Choroideremia hereditary?

Name: Is Choroideremia hereditary?
Creator: DiseaseMaps Editorial Team
Published: 2016-07-15UTC19:02:15.0000000

Is Choroideremia hereditary? The genetic component explained in plain language, reviewed against medical sources, with patient experiences.

Choroideremia is an X-linked recessive genetic disorder, meaning it is hereditary and passed through families on the X chromosome. Because it is a genetic condition caused by mutations in the CHM gene, it is inherited rather than acquired, and it typically affects males much more severely than females.

How is Choroideremia inherited?

Choroideremia follows an X-linked recessive inheritance pattern. Females have two X chromosomes, so if they carry a mutation in the CHM gene on one X, the healthy copy on the other X usually compensates, often leaving them asymptomatic or with very mild retinal changes. Males have only one X chromosome; if they inherit the CHM mutation, they will develop Choroideremia because they lack a second, functional copy of the gene.

What are the risks for children of an affected parent?

The risk of passing on Choroideremia depends on the parent's sex:

Affected fathers: All daughters will be obligate carriers of the CHM mutation, but none of his sons will inherit the condition (as they receive his Y chromosome).

Carrier mothers: Each son has a 50% chance of inheriting the mutation and developing Choroideremia, while each daughter has a 50% chance of being a carrier.

Is genetic testing available for Choroideremia?

Yes, molecular genetic testing is the gold standard for confirming a diagnosis of Choroideremia. Testing typically involves sequencing the CHM gene to identify pathogenic variants. While de novo (spontaneous) mutations can occur, they are less common than familial inheritance. Clinical geneticists recommend testing for symptomatic individuals and cascade testing for family members to identify female carriers who may wish to pursue reproductive options.

What is the role of genetic counseling?

Genetic counseling is vital for families living with Choroideremia. A counselor can help interpret test results, calculate recurrence risks, and explain reproductive technologies such as Preimplantation Genetic Testing (PGT) for those wishing to avoid passing the condition to future children. With 96 members in our DiseaseMaps.org community, we see firsthand how informed planning and peer support empower families.