Living with Atrophia bulborum hereditaria
An inherited eye condition (Norrie disease) in boys that causes blindness at or soon after birth, sometimes with hearing and developmental differences.
Understanding Atrophia bulborum hereditaria
The retina develops abnormally and the pupils look white in light (leukocoria). The irises or whole eyeballs may shrink in the first months, and cataracts may develop. About 30 percent of people develop progressive hearing loss, and 30 to 50 percent have delays in motor skills. Some have mild to moderate intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blindness from infancy
- White-looking pupils (leukocoria)
- Small eyeballs (microphthalmia)
- Cataracts and cloudy corneas
- Progressive hearing loss (in about 30 percent)
- Intellectual disability in some people
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in NDP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Norrie Disease Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the NDP gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: anderson-warburg syndrome; episkopi blindness; fetal iritis syndrome; nd; norrie disease; norrie disease, x-linked recessive
Patient organizations
- Norrie Disease AssociationAtrophia bulborum hereditaria · United States
- Pediatric Retinal Research FoundationAtrophia bulborum hereditaria · United States
You are more than your diagnosis
Perspectives from people navigating life with Atrophia bulborum hereditaria.
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