Living with PHARC syndrome
A slowly progressive inherited condition with nerve problems, hearing loss, cataract, and a retina disorder that appear around age 30.
Understanding PHARC syndrome
It is similar to Refsum disease. Signs of nerve damage come with hearing loss, cataract, and a retina disorder called pigmentary retinopathy. These become evident in the third decade of life. GARD lists the onset as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Nerve damage (demyelinating neuropathy)
- Hearing loss
- Cataract
- Retina disorder (rod-cone dystrophy)
- Problems with balance and coordination (ataxia)
- Shrinking of the cerebellum
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 ABHD12 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); Ear, nose, and throat specialists (otolaryngologists); 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 ABHD12 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: peripheral neuropathy, fiskerstrand type; polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome; polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome; polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
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 PHARC syndrome.
Explore research for PHARC syndrome
Explore actively recruiting PHARC syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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