Living with Retinohepatoendocrinologic syndrome
A very rare condition with total color blindness, liver disease, and hormone problems such as low thyroid and diabetes.
Understanding Retinohepatoendocrinologic syndrome
It includes total colorblindness from slowly worsening damage to cone cells, liver disease, and hormone problems such as low thyroid function, diabetes, and repeated miscarriages or infertility. It has been described in six females from two related families and in one male from another family.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these:
- Total colorblindness
- Slowly worsening cone cell damage
- Degenerative liver disease
- Low thyroid function (hypothyroidism)
- Diabetes
- Repeated miscarriages or infertility
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 rare disease patient organizations for support
- 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 doesn't describe a cause for this condition yet. Its summary notes that families had a high degree of consanguinity (parents related to each other).
Also known as: rhe (retinohepatoendocrinologic) syndrome; rhe syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Retinohepatoendocrinologic syndrome.
Explore research for Retinohepatoendocrinologic syndrome
Explore actively recruiting Retinohepatoendocrinologic syndrome studies with HealthSpark.
Find actively recruiting studies for Retinohepatoendocrinologic syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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