Knobloch syndrome

Common Name(s)

Knobloch syndrome

Knobloch syndrome is characterized by severe nearsightedness (myopia), recurrent retinal detachment, and encephalocele. This condition has an autosomal recessive pattern of inheritance. There are three types of Knobloch syndrome, which can be distinguished by the underlying genetic cause. The condition is called Knobloch syndrome type I when it is caused by mutations in the COL18A1 gene. The genes associated with Knobloch syndrome type II and type III have not been identified; however, Knobloch syndrome type III has been linked to a specific region on chromosome 17, known as 17q11.2.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Knobloch syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Knobloch syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports.
 

Author(s): Robert J White, Yao Wang, Peter Tang, Sandra R Montezuma

Journal:

 

Knobloch Syndrome (KS) is a rare congenital syndrome characterized by occipital skull defects and vitreoretinal degeneration. Retinal detachment (RD) often occurs at the end of the first decade of life or later. Aside from occipital skull defects, central nervous system abnormalities are uncommon.

Last Updated: 31 Dec 1969

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Optical coherence tomography findings and successful repair of retina detachment in Knobloch syndrome.
 

Author(s): Nazanin Ebrahimiadib, Bobeck S Modjtahedi, Kevin Ferenchak, Thanos D Papakostas, Jason S Mantagos, Demetrios G Vavvas

Journal:

 

A 7-year-old Afghani girl was referred to the retina clinic of Massachusetts Eye and Ear for a chronic-appearing, macula-off retinal detachment in the left eye. On examination, best-corrected visual acuity was 20/400 in the right eye and 20/800 in the left eye. She had bilateral horizontal ...

Last Updated: 31 Dec 1969

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Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
 

Author(s): Alireza Haghighi, Amit Tiwari, Niloofar Piri, Gudrun Nürnberg, Nasrollah Saleh-Gohari, Amirreza Haghighi, John Neidhardt, Peter Nürnberg, Wolfgang Berger

Journal:

 

The aim of this study was to identify the genetic basis of a chorioretinal dystrophy with high myopia of unknown origin in a child of a consanguineous marriage. The proband and ten family members of Iranian ancestry participated in this study. Linkage analysis was carried out with ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Knobloch syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.
 

Author(s): Ahmet Okay Caglayan, Jacob F Baranoski, Fesih Aktar, Wengi Han, Beyhan Tuysuz, Aslan Guzel, Bulent Guclu, Hande Kaymakcalan, Berrin Aktekin, Gozde Tugce Akgumus, Phillip B Murray, Emine Z Erson-Omay, Caner Caglar, Mehmet Bakircioglu, Yildirim Bayezit Sakalar, Ebru Guzel, Nihat Demir, Oguz Tuncer, Senem Senturk, Baris Ekici, Frank J Minja, Nenad Šestan, Katsuhito Yasuno, Kaya Bilguvar, Huseyin Caksen, Murat Gunel

Journal: Pediatr. Neurol.. 2014 Dec;51(6):806-813.e8.

 

Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, and cutis aplasia). Although there is clear heterogeneity in clinical presentation, ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.