Knobloch Syndrome
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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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Jose E. Monroy
Advanced in Knobloch Syndrome
Dr. Jose E. Monroy
Ophthalmology
Advanced in Knobloch Syndrome
Dr. Jose E. Monroy
Ophthalmology

Beth Israel Deaconess Medical Center

330 Brookline Avenue, Shapiro 5th Floor, 
Boston, MA 
617-667-3391
Languages Spoken:
English, Italian, Spanish
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Jose Monroy is an Ophthalmologist in Boston, Massachusetts. Dr. Monroy is rated as an Advanced provider by MediFind in the treatment of Knobloch Syndrome. His top areas of expertise are Micropthalmia Associated with Colobomatous Cyst, Lenz Microphthalmia Syndrome, Microphthalmia, Cataract Removal, and Myringotomy.

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