Living with X-linked intellectual disability-retinitis pigmentosa syndrome
A rare X-linked condition with moderate learning difficulty and severe, early-onset retinitis pigmentosa, described in one family.
Understanding X-linked intellectual disability-retinitis pigmentosa syndrome
Retinitis pigmentosa is an eye disease that affects the retina. GARD says it has been described in five males across three generations of one family. Some also had a small head. Signs begin during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Light eye color
- Retinitis pigmentosa
- Small head size (in some)
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.
- 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); 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 Chromosome Disorder Outreach
- 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 it is passed on as an X-linked recessive trait. It doesn't name a gene.
Also known as: aldred syndrome; chromosome xp11.3 deletion syndrome; chromosome xp11.3 deletion syndrome, x-linked recessive; retinitis pigmentosa and intellectual disability due to del(x)(p11.3); retinitis pigmentosa and intellectual disability due to monosomy xp11.3; retinitis pigmentosa and intellectual disability due to xp11.3 microdeletion
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- 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 X-linked intellectual disability-retinitis pigmentosa syndrome.
Explore research for X-linked intellectual disability-retinitis pigmentosa syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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