Table 5. [Recommended Evaluations Following Initial Diagnosis in Individuals with Adult Refsum Disease]. - GeneReviews®

System/Concern	Evaluation	Comment
Retinitis pigmentosa (RP)	Ophthalmologic eval incl extensive history taking on night blindness & restricted visual fields; as well as: Visual field testing Electroretinography Autofluorescence imaging Spectral domain optical coherence tomography	Although the degree to which the retina is affected by RP varies, there is no essential difference between what is seen in classic RP & the retinal phenotype assoc w/ARD.
Anosmia	University of Pennsylvania Smell Identification Test (described by Gibberd et al [2004]) or any other standardized test
Polyneuropathy	Complete neurologic eval incl electrophysiologic testing
Ataxia
Deafness	Pure tone audiometry & possibly otoacoustic emission testing & BAER testing if hearing difficulties are not identified on pure tone audiometry
Skeletal abnormalities	Clinical & radiographic eval of hands & feet for metacarpal & metatarsal anomaly
Cardiomyopathy	Complete eval directed by cardiologist
Genetic counseling	By genetics professionals ¹	To inform patients & families re nature, MOI, & implications of ARD in order to facilitate medical & personal decision making

System/Concern

Evaluation

Comment

Retinitis
pigmentosa (RP)

Ophthalmologic eval incl extensive history taking on night blindness & restricted visual fields; as well as:

Visual field testing
Electroretinography
Autofluorescence imaging
Spectral domain optical coherence tomography

Although the degree to which the retina is affected by RP varies, there is no essential difference between what is seen in classic RP & the retinal phenotype assoc w/ARD.

Anosmia

University of Pennsylvania Smell Identification Test (described by Gibberd et al [2004]) or any other standardized test

Polyneuropathy

Complete neurologic eval incl electrophysiologic testing

Ataxia

Deafness

Pure tone audiometry & possibly otoacoustic emission testing & BAER testing if hearing difficulties are not identified on pure tone audiometry

Skeletal
abnormalities

Clinical & radiographic eval of hands & feet for metacarpal & metatarsal anomaly

Cardiomyopathy

Complete eval directed by cardiologist

Genetic
counseling

By genetics professionals ¹

To inform patients & families re nature, MOI, & implications of ARD in order to facilitate medical & personal decision making

From: Adult Refsum Disease

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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