Living with Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
A rare genetic eye condition causing light sensitivity and slow loss of central vision, while side vision stays.
Understanding Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
It involves lower sensitivity in the center of the retina and changes to nerve cells and fibers in the eye. People notice sensitivity to light and a slow loss of central vision, while side (peripheral) vision stays. It starts in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Central blind spot (central scotoma)
- Reduced clarity of vision
- Extreme sensitivity to light (photophobia)
- Pale optic disc (optic disc pallor)
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 eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ITM2B 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
- 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 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
It is caused by changes in the ITM2B gene. It is autosomal dominant, so one changed copy of the gene can be enough to cause it.
Also known as: retinal dystrophy with inner nuclear layer and ganglion cell anomalies; retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
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 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies.
Explore research for Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Explore actively recruiting Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies studies with HealthSpark.
Find actively recruiting studies for Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 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 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 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 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
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 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 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.