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BMC Ophthalmology
Published in: BMC Ophthalmology 1/2017

Open Access 01-12-2017 | Case report

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

Authors: Robert J. White, Yao Wang, Peter Tang, Sandra R. Montezuma

Published in: BMC Ophthalmology | Issue 1/2017

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Abstract

Background

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.

Case presentations

We report on two siblings with KS. The first, a seven month old male, presented with nystagmus and was found to have a serous RD and a tessellated retinal appearance. His sister had a history of multiple visual abnormalities and had a similar retinal appearance although no signs of RD, but retina staphylomas. Genetic testing performed on both siblings showed a mutation in COL18A1, diagnostic of KS. MRI of both siblings demonstrated polymicrogyria but did not show occipital defects.

Conclusions

Although several families with KS have been described previously, our case is noteworthy for several reasons. The RD observed in our first patient occurred at an early age, and we find evidence of only one patient with KS who had an RD identified at an earlier age. The findings of polymicrogyria are not characteristic of KS, and we found only a few previous reports of this association. Additionally, we review potential treatment options for this condition.
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Metadata
Title
Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports
Authors
Robert J. White
Yao Wang
Peter Tang
Sandra R. Montezuma
Publication date
01-12-2017
Publisher
BioMed Central
Published in
BMC Ophthalmology / Issue 1/2017
Electronic ISSN: 1471-2415
DOI
https://doi.org/10.1186/s12886-017-0615-z

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