Knobloch Syndrome Overview

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Learn About Knobloch Syndrome

What is the definition of Knobloch Syndrome?
Knobloch syndrome is characterized by severe vision problems and skull defects. The most common features include extreme nearsightedness (high myopia), recurrent retinal detachment, and occipital encephalocele. There are three types of Knobloch syndrome, which can be distinguished by the underlying genetic cause. Knobloch syndrome type I is caused by genetic changes in the COL18A1 gene. The genes associated with Knobloch syndrome type 2 and type 3 have not been identified; however, Knobloch syndrome type 3 has been linked to a specific region on chromosome 17, known as 17q11.2. Knobloch syndrome follows an autosomal recessive pattern of inheritance.
What are the alternative names for Knobloch Syndrome?
  • Knobloch syndrome
  • Knobloch-Layer syndrome
  • Myopia retinal detachment encephalocele
  • Retinal detachment-occipital encephalocele syndrome
Who are the top Knobloch Syndrome Local Doctors?
Elite in Knobloch Syndrome
Taina A. Pihlajaniemi
Elite in Knobloch Syndrome
Taina A. Pihlajaniemi
Oulu, FI 

Taina Pihlajaniemi practices in Oulu, Finland. Ms. Pihlajaniemi is rated as an Elite expert by MediFind in the treatment of Knobloch Syndrome. Her top areas of expertise are Knobloch Syndrome, Encephalocele, Squamous Cell Skin Carcinoma, and Retinal Detachment.

Elite in Knobloch Syndrome
Sengul Ozdek
Elite in Knobloch Syndrome
Sengul Ozdek
Gazi, TR 

Sengul Ozdek practices in Gazi, Turkey. Ozdek is rated as an Elite expert by MediFind in the treatment of Knobloch Syndrome. Their top areas of expertise are Retinal Detachment, Knobloch Syndrome, Retinopathy of Prematurity, Vitrectomy, and Trabeculectomy.

 
 
 
 
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Sarah M. Duff
Advanced in Knobloch Syndrome
Dr. Sarah M. Duff
Ophthalmology
Advanced in Knobloch Syndrome
Dr. Sarah M. Duff
Ophthalmology

Pediatric Eye Specialists, TX - ECW

2212 Emery St., 
Denton, TX 
817-529-9949
Languages Spoken:
English
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Accepting New Patients

Sarah Duff is an Ophthalmologist in Denton, Texas. Dr. Duff is rated as an Advanced provider by MediFind in the treatment of Knobloch Syndrome. Her top areas of expertise are Epicanthal Folds, Strabismus, Blocked Tear Duct, and Amblyopia. Dr. Duff is currently accepting new patients.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center