Short answer · Medically reviewed summary · Last updated: 2026-05-08
Norrie disease is an X-linked recessive genetic disorder caused by mutations in the NDP gene, meaning it is hereditary and passed from mothers to their sons. While it is almost always inherited, approximately 15% to 20% of cases may result from de novo (spontaneous) mutations, occurring in individuals with no prior family history of the condition. Is Norrie disease hereditary? Yes, Norrie disease is a hereditary condition.
1 people with Norrie Disease have shared their first-person experience on this question at DiseaseMaps.
Is Norrie Disease hereditary?
Is Norrie Disease hereditary? The genetic component explained in plain language, reviewed against medical sources, with patient experiences.
Norrie disease is an X-linked recessive genetic disorder caused by mutations in the NDP gene, meaning it is hereditary and passed from mothers to their sons. While it is almost always inherited, approximately 15% to 20% of cases may result from de novo (spontaneous) mutations, occurring in individuals with no prior family history of the condition.
Is Norrie disease hereditary?
Yes, Norrie disease is a hereditary condition. Because the NDP gene is located on the X chromosome, it follows an X-linked recessive inheritance pattern. This means that females who carry one mutated copy of the gene are typically asymptomatic carriers, while males who inherit the mutation will express the full clinical features of Norrie disease, as they only possess one X chromosome.
What are the risks for family members?
If a woman is a carrier of the Norrie disease mutation, the risks for her children are as follows:
- For each son: There is a 50% chance of inheriting the mutation and being affected by Norrie disease.
- For each daughter: There is a 50% chance of inheriting the mutation and becoming a carrier, typically without clinical symptoms.
How is genetic testing and counseling utilized?
Genetic testing for Norrie disease involves sequencing the NDP gene to identify pathogenic variants. Clinical geneticists recommend this testing for individuals showing symptoms of retinal detachment or hearing loss, and for family members of an affected individual to determine carrier status. Genetic counseling is vital for families, as it provides clarity on recurrence risks, discusses reproductive options like preimplantation genetic testing (PGT), and offers support for the 22 community members and their families navigating this rare diagnosis on DiseaseMaps.org.
Next steps
- Consult with a clinical geneticist to discuss Norrie disease diagnostic or carrier testing.
- Connect with the 22 members of the Norrie disease community at DiseaseMaps.org for peer support.
- Speak with a genetic counselor regarding family planning and prenatal diagnostic options.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Norrie disease overview.
- Orphanet: Norrie disease (ORPHA:650).
- OMIM (Online Mendelian Inheritance in Man): Norrie disease; NDP (Entry #310600).
- GeneReviews: NDP-Related Retinopathies.
Posted May 22, 2017 by Amanda Gough 800
