Living with Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
A rare genetic syndrome with eye changes, early cataracts, short height, intellectual disability, and developmental delay.
Understanding Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
It involves delayed development from early childhood, intellectual disability, short stature, and mild facial differences. People also have wide tooth spacing, a bad bite, early cataracts, and an atypical form of retinitis pigmentosa. Onset is in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Moderate intellectual disability
- Early cataract (juvenile cataract)
- Progressive night blindness
- Narrowing of peripheral vision
- Poor fine motor coordination
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 RDH11 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
- Brain and nervous system specialists (neurologists); 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 RDH11 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: retinal dystrophy-juvenile cataract-short stature syndrome; retinal dystrophy, juvenile cataract, short stature syndrome; retinal dystrophy, juvenile cataracts, and short stature syndrome; retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome.
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