What is Cohen Syndrome
after Michael Cohen
Synonyms: Pepper syndrome, Cervenka syndrome
English: Cohen syndrome
The Cohen Syndrome is a rare hereditary disease that has a very variable range of symptoms and affects many parts of the body. Among other things, myopia, muscular hypotension and microencephaly occur. The Mirhosseini-Holmes-Walton syndrome is assigned to the Cohen syndrome.
Cohen syndrome is a very rare disease. So far (2017) around 1,000 cases have been described worldwide. It is likely that many cases have not yet been described or have been incorrectly assigned to Prader-Willi syndrome. The disease is most common in Finland and in a small Amish community in Ohio, USA.
Cohen syndrome is inherited as an autosomal recessive trait. The cause of the disease is a mutation in locus 8q22-q23 in the COH1 gene, also known as the VPS13B gene. Normally, this gene probably codes for an intracellular, vesicle-dependent transport protein that is part of the Golgi apparatus. However, the exact function of the COH1 gene is not known to date (2017).
The symptoms of Cohen's syndrome are very variable in different populations. It was only described as homogeneous in Finnish patients. The main diagnostic criterion is progressive eye symptoms, which manifest themselves at the age of five. Myopia and / or pigment retinopathy occurs. The following symptoms can also occur:
To date (2017) there is no causal therapy for Cohen's syndrome. So far, therapy has been based on the patient's individual symptoms.
6 differential diagnoses
The following differential diagnoses should be considered:
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