Knobloch syndrome

Also known as: Occipital encephalocele with high myopia

High myopia, vitreoretinal degeneration and occipital defect.

Medical specialty: Ophthalmology
Subspecialty: Ophthalmology / Inherited retinal disease
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: ADAMTS18, COL18A1

Etiology & mechanism

Collagen XVIII/endostatin deficiency.

Gene(s) involved (2)

ADAMTS18COL18A1

Symptoms & signs (5)

cataracthigh myopiaoccipital encephaloceleretinal detachmentvitreoretinal degeneration

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.