Overview
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its four main features: retinitis pigmentosa (a progressive eye disease that damages the retina and leads to vision loss), juvenile cataracts (clouding of the eye lens that develops in childhood or adolescence), short stature (being significantly shorter than expected for age), and intellectual disability (difficulty with learning, reasoning, and everyday problem-solving skills). Retinitis pigmentosa typically begins with difficulty seeing in dim light (night blindness) and gradually narrows the field of vision, sometimes described as tunnel vision. Over time, central vision may also be affected. The cataracts that develop at a young age further compromise eyesight. Short stature is usually noticeable during childhood growth, and intellectual disability can range from mild to moderate, affecting school performance and daily functioning. Because this syndrome is so rare, there is no specific cure or targeted therapy available. Treatment focuses on managing each symptom individually. This may include cataract surgery, low-vision aids, special education support, growth hormone evaluation, and regular monitoring by multiple specialists. Early diagnosis and coordinated care can help improve quality of life and maximize each person's potential.
Key symptoms:
Progressive vision loss starting with night blindnessTunnel vision (loss of side vision)Clouding of the eye lens (cataracts) developing in childhood or teen yearsShort stature or growth delayIntellectual disability or learning difficultiesDifficulty seeing in low lightSensitivity to bright lightDelayed developmental milestonesDifficulty with school performanceReduced central vision over time
Clinical phenotype terms (27)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
1 eventGenSight Biologics — PHASE1, PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the current status of my child's retinal health, and how quickly might vision change?,Would cataract surgery be beneficial at this stage, and what are the risks?,Should we consider growth hormone testing or treatment for short stature?,What genetic testing should be done, and could it help identify the exact cause?,What educational and developmental support services do you recommend?,Are there any clinical trials or emerging therapies we should know about?,How often should we schedule follow-up visits with each specialist?
Common questions about Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
What is Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome?
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its four main features: retinitis pigmentosa (a progressive eye disease that damages the retina and leads to vision loss), juvenile cataracts (clouding of the eye lens that develops in childhood or adolescence), short stature (being significantly shorter than expected for age), and intellectual disability (difficulty with learning, reasoning, and everyday problem-solving skills). Retinitis pigmentos
How is Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome inherited?
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome typically begin?
Typical onset of Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome?
Yes — 1 recruiting clinical trial is currently listed for Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.