(mentions CMT) Pupil abnormalities in 131 cases of genetically defined inherited

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Eye (Lond). 2009 Apr;23(4):966-74. Epub 2008 Jul 18.

Pupil abnormalities in 131 cases of genetically defined inherited peripheral

neuropathy.

Houlden H, Reilly MM, S.

Department 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.

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.