Living with Ornithine aminotransferase deficiency
An inherited eye condition, also called gyrate atrophy, with slowly worsening vision starting in childhood.
Understanding Ornithine aminotransferase deficiency
Cells in the retina and the layer beneath it slowly waste away. In childhood people develop nearsightedness, trouble seeing in low light, and loss of side vision, which narrows into tunnel vision. Many also develop cataracts. Most people have no other symptoms, but some newborns have high blood ammonia, some have mild to moderate intellectual disability, and some have nerve problems like tingling. GARD lists childhood as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Nearsightedness (myopia)
- Night blindness that gets worse over time
- Loss of side vision
- Cataracts
- Wasting away of the retina and choroid
- Progressive vision loss
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in OAT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- 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 The Foundation for Peripheral Neuropathy 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
Changes in the OAT gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: gacr; girate atrophy of the retina; gyrate atrophy; gyrate atrophy of choroid and retina; gyrate atrophy of choroid and retina with or without ornithinemia; gyrate atrophy of the choroid and/or retina
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Ornithine aminotransferase deficiency.
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