Living with Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
A rare genetic condition with weak eye muscles, intellectual disability, a grooved tongue, and slowly progressive retina changes.
Understanding Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
It includes weakness of the muscles that move the eyes from birth, a grooved tongue, slowly progressing damage to the retina, and intellectual disability. Droopy eyelids, facial weakness, and nearsightedness may occur. GARD notes no further descriptions in the literature since 1975. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak or paralyzed eye muscles (ophthalmoplegia)
- Droopy upper eyelids (ptosis)
- Grooved tongue (lingua scrotalis)
- Intellectual disability and learning disability
- Facial weakness
- Nearsightedness (myopia)
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 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
GARD says changes in genes cause this condition. It is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough.
Also known as: levic-stefanovic-nikolic syndrome; ophthalmoplegia, progressive, with scrotal tongue and mental deficiency
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 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome.
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