Abstract
Aim
To investigate and correlate the frequency and types of pupil abnormalities that are associated with hereditary peripheral neuropathy in a large cohort of patients prospectively examined.
Methods
A prospective study between 1998 and 2007. Patients were enrolled and examined after being seen in the neurology clinic. Data were collected on demographics, family and medical history. Patients had eye and pupillography testing carried out as well as being neurologically and genetically investigated.
Results
A consecutive series of 131 cases of inherited peripheral neuropathy were seen and categorized into five groups: familial amyloid polyneuropathy (FAP), Charcot Marie Tooth disease (CMT), hereditary neuropathywith liability to pressure palsies (HNPP), Refsum's disease, and hereditary sensory and autonomic neuropathy. A number of unreported mutations were identified in these patient groups. Pupil abnormalities were common in the Refsum's group, with frequent abnormally small pupils. The inherited neuropathies commonly associated with autonomic abnormalities were frequently found to have developed bilateral Horner's syndrome, which was particularly prevalent in our FAP series. Abnormalities were rare in HNPP and CMT type 1, but CMT type 2 showed frequent and varied pupil defects. The results describe the pupil abnormalities that were frequently associated with the particular group of inherited neuropathy patients, but we could not predict the genetic defect or the neuropathy severity.
Conclusions
This is the first study of the pupil abnormalities found in the inherited neuropathies and provides an overview of the frequency and type of defects seen in a large number of cases. This series along with the detailed tables will act as an important diagnostic aid in assessing these patients.
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Acknowledgements
We are grateful to the patients, without whom the study would not have been possible. We also thank the MRC, HH holds an MRC clinician scientist fellowship. Professor Smith died in December 2007 during the final preparation of this manuscript. He made an enormous contribution to this paper and to the investigation of pupil abnormalities throughout his life.
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There are no conflicts of interest and this work has not been previously presented or published
Professor Smith died in December 2007
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Houlden, H., Reilly, M. & Smith, S. Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy. Eye 23, 966–974 (2009). https://doi.org/10.1038/eye.2008.221
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DOI: https://doi.org/10.1038/eye.2008.221
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