Pupil abnormalities in 131 cases of genetically defined inherited peripheral neu

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Eye. 2008 Jul 18.

Pupil abnormalities in 131 cases of genetically defined inherited

peripheral neuropathy.

Houlden H, Reilly MM, S.

1Departments of Molecular Neurosciences, Neuro-ophthalmology and MRC

Centre for Neuromuscular diseases, The National Hospital for

Neurology and Neurosurgery and The Institute of Neurology, Queen

Square, London, UK.

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 neuropathy with 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.