Knobloch Syndrome
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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
Elite in Knobloch Syndrome
Oulu, FI 

Taina Pihlajaniemi practices practicing medicine in Oulu, Finland. Ms. Pihlajaniemi is rated as an Elite expert by MediFind in the treatment of Knobloch Syndrome. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Knobloch Syndrome, Encephalocele, Squamous Cell Skin Carcinoma, and Retinal Detachment.

Experienced in Knobloch Syndrome
Experienced in Knobloch Syndrome

OSF Children's Hospital Of Illinois - Ophthalmology

4927 North Glen Park Place Road, 
Peoria, IL 
Languages Spoken:
English

Steven Lichtenstein is an Ophthalmologist practicing medicine in Peoria, Illinois. Dr. Lichtenstein is rated as an Experienced provider by MediFind in the treatment of Knobloch Syndrome. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Strabismus, Oculomotor Apraxia Cogan Type, Esotropia, Amblyopia, and Vitrectomy. Dr. Lichtenstein is board certified in American Board Of Ophthalmology.

 
 
 
 
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Advanced in Knobloch Syndrome
Ophthalmology
Advanced in Knobloch Syndrome
Ophthalmology

Beth Israel Deaconess Medical Center

330 Brookline Avenue, Shapiro 5th Floor, 
Boston, MA 
Languages Spoken:
English, Italian, Spanish

Jose Monroy is an Ophthalmologist practicing medicine in Boston, Massachusetts. Dr. Monroy is rated as an Advanced provider by MediFind in the treatment of Knobloch Syndrome. He is also highly rated in 37 other conditions, according to our data. His clinical expertise encompasses Microphthalmia, Microphthalmia with Linear Skin Defects Syndrome, Lenz Microphthalmia Syndrome, Cataract Removal, and Myringotomy. Dr. Monroy is board certified in American Board Of Ophthalmology.

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Who are the sources who wrote this article ?

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

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