BACKGROUND: Adult Refsum's disease (ARD) is characterised by the presence of retinitis pigmentosa, ataxia, deafness, sensory neuropathy, and bony changes. The diagnosis is confirmed by the presence of phytanic acidaemia. Although reduced smell function has been described in ARD, its value in the diagnosis of the condition has not been fully evaluated. OBJECTIVE: To investigate the prevalence and degree of olfactory dysfunction in patients with ARD. METHOD: The olfactory function of 16 patients with ARD was assessed using the quantitative University of Pennsylvania Smell Identification Test (UPSIT). RESULTS: All patients had complete anosmia or grossly impaired smell function with a mean UPSIT score of 14.7 (SD 4.7) (normal > 34) despite having been treated with an appropriate diet for a median of 15 years (range 1-25). CONCLUSIONS: Identification of ARD patients can be facilitated by using the UPSIT in combination with the presence of retinitis pigmentosa, even if they have no neurological or bony features. Phytanic acid screening should be performed in any patient manifesting these two signs.
BACKGROUND: Adult Refsum's disease (ARD) is characterised by the presence of retinitis pigmentosa, ataxia, deafness, sensory neuropathy, and bony changes. The diagnosis is confirmed by the presence of phytanic acidaemia. Although reduced smell function has been described in ARD, its value in the diagnosis of the condition has not been fully evaluated. OBJECTIVE: To investigate the prevalence and degree of olfactory dysfunction in patients with ARD. METHOD: The olfactory function of 16 patients with ARD was assessed using the quantitative University of Pennsylvania Smell Identification Test (UPSIT). RESULTS: All patients had complete anosmia or grossly impaired smell function with a mean UPSIT score of 14.7 (SD 4.7) (normal > 34) despite having been treated with an appropriate diet for a median of 15 years (range 1-25). CONCLUSIONS: Identification of ARD patients can be facilitated by using the UPSIT in combination with the presence of retinitis pigmentosa, even if they have no neurological or bony features. Phytanic acid screening should be performed in any patient manifesting these two signs.
Authors: Peter Charbel Issa; Peggy Reuter; Laura Kühlewein; Johannes Birtel; Martin Gliem; Anke Tropitzsch; Katherine L Whitcroft; Hanno J Bolz; Kenji Ishihara; Robert E MacLaren; Susan M Downes; Akio Oishi; Eberhart Zrenner; Susanne Kohl; Thomas Hummel Journal: JAMA Ophthalmol Date: 2018-07-01 Impact factor: 7.389
Authors: Francesca I Arrigoni; Mar Matarin; Pamela J Thompson; Michel Michaelides; Michelle E McClements; Elizabeth Redmond; Lindsey Clarke; Elizabeth Ellins; Saifullah Mohamed; Ian Pavord; Nigel Klein; David M Hunt; Anthony T Moore; Julian Halcox; Sanjay M Sisodiya Journal: Eur J Hum Genet Date: 2010-09-22 Impact factor: 4.246