Ophthalmology · Ophthalmology / Inherited retinal disease
Knobloch syndrome
also: Occipital encephalocele with high myopia
High myopia, vitreoretinal degeneration and occipital defect.
- Specialty
- Ophthalmology
- Subspecialty
- Ophthalmology / Inherited retinal disease
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- ADAMTS18, COL18A1
- Alternative names & eponyms
- Occipital encephalocele with high myopia
Etiology & mechanism
Collagen XVIII/endostatin deficiency.
Gene(s) involved (2)
Symptoms & signs (5)
In plain terms, someone with Knobloch syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Marshall syndrome
cataract, high myopia
2 shared
Stickler syndrome
high myopia, retinal detachment
1 shared
Acute retinal necrosis syndrome
retinal detachment
1 shared
Congenital rubella syndrome
cataract
1 shared
Epstein syndrome
cataract
1 shared
Fuchs heterochromic iridocyclitis syndrome
cataract
1 shared
Meckel–Gruber syndrome
occipital encephalocele
1 shared
Pseudoexfoliation syndrome
cataract
1 shared
Usher syndrome
cataract
1 shared
Wagner syndrome
cataract
Shares genes with
None.
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