Living with Knobloch syndrome
A rare condition with severe nearsightedness, retinal and eye problems that can affect vision, and a skull defect at the back of the head.
Understanding Knobloch syndrome
A characteristic feature is extreme nearsightedness (high myopia). Most people also have breakdown of the vitreous and retina in the eye, which can lead to retinal detachment, and some have macula changes. Many develop blindness in one or both eyes. Another feature is a skull defect at the back of the head, often an occipital encephalocele (a sac of brain through a gap in the bone). Most people have normal intelligence.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Extreme nearsightedness (high myopia)
- Breakdown of the vitreous and retina
- Retinal detachment
- Macula (central retina) changes
- Skull defect at the back of the head
- Vision loss in one or both eyes
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation Fighting Blindness may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Foundation Fighting Blindness
- 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 Foundation Fighting Blindness
- 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 doesn't describe a cause for this condition yet.
Also known as: kno; myopia retinal detachment encephalocele; retinal detachment and occipital encephalocele
Patient organizations
- Foundation Fighting BlindnessKnobloch syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Knobloch syndrome.
Explore research for Knobloch syndrome
Explore actively recruiting Knobloch syndrome studies with HealthSpark.
Find actively recruiting studies for Knobloch syndrome 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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