Living with Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
A rare syndrome with retina damage, hearing loss, intellectual disability, diabetes, and hormone-related differences.
Understanding Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
GARD lists retina changes, diabetes with high insulin, dark thickened skin patches (acanthosis nigricans), cataracts, hearing loss, and short stature. Males may have mildly low hormone production from the testes, and females may have polycystic ovaries with few periods. It is thought to be autosomal recessive. It begins in childhood. No further descriptions were found in the literature since 1993.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Retina pigment changes
- Intellectual disability
- Hearing loss from nerve damage
- Cataract (clouding of the eye lens)
- Type 2 diabetes
- Darkened, thickened skin (acanthosis nigricans)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 Prevent Blindness America
- 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 inheritance is thought to be autosomal recessive, so a child would inherit a changed copy of the gene from each parent. It does not list a gene.
Also known as: retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome; retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome; retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome
Patient organizations
- Prevent Blindness AmericaRetinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome.
Explore research for Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
Explore actively recruiting Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome studies with HealthSpark.
Find actively recruiting studies for Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.