Living with Knobloch syndrome 1
A rare genetic condition with severe nearsightedness, repeated retinal detachment, and a skull opening at the back of the head.
Understanding Knobloch syndrome 1
It is marked by very strong nearsightedness, repeated episodes when the retina pulls away from the back of the eye (retinal detachment), and a bulge or opening in the skull near the back of the head called an occipital encephalocele. There are three known types, grouped by genetic cause. Type 1 is caused by changes in the COL18A1 gene.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very strong nearsightedness
- Retinal detachment
- Skull opening at the back of the head (occipital encephalocele)
- Clouding of the lens (cataract)
- Glaucoma
- Macula that did not fully develop
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 COL18A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation Fighting Blindness may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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
Changes in the COL18A1 gene cause type 1. It is autosomal recessive, meaning a child inherits a nonworking copy of the gene from each parent, who are usually carriers and typically do not have symptoms.
Also known as: kno1; knobloch syndrome type 1; knobloch syndrome type i; knobloch syndrome, type 1; knobloch-layer syndrome; retinal detachment-occipital encephalocele syndrome
Patient organizations
- Foundation Fighting BlindnessKnobloch syndrome 1 · United States
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