Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy

Rüether, Klaus; Baldwin, Eleanor; Casteels, Minne; Feher, Michael; Horn, Morten Andreas; Kuranoff, Susan; Leroy, Bart P.; Wanders, Ronald J. A.; Wierzbicki, Anthony S.

doi:10.1016/j.survophthal.2010.03.007

Cited by 37 publications

(22 citation statements)

References 31 publications

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“…One other case description of infantile-onset ARD syndrome exists but describes a more severe clinical but similar biochemical phenotype in a male child (Herbert and Clayton 1994). Her delayed diagnosis is not unusual in cases of ARD where the delay in diagnosis is typically 11 years (Claridge et al 1992;Ruther 2005). This is the first case report describing the birth of a healthy baby despite very high phytanic acid levels in the mother.…”

Section: Discussionmentioning

confidence: 84%

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

et al. 2016

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We describe the management and outcomes of pregnancy in a 27-year-old woman with infantile-onset Adult Refsum's disease (ARD). She presented in infancy but was diagnosed with ARD at the age of 10 on basis of phytanic acidaemia and later confirmed to have the phytanoyl-CoA hydroxylase ((PHYH) c.164delT, p. L55fsX12) mutation. Despite repeated plasmapheresis sessions and strict dietary surveillance for 20 years, her phytanic acid levels persistently stayed above the ideal target level of 100 mmol/L but remained below 400 mmol/L. Initially the pregnancy was uncomplicated but in the third trimester of pregnancy the patient was admitted to the hospital with fluctuating hypertension, sinus tachycardia and breathlessness. The patient was compliant with diet during pregnancy and her phytanic levels were remained well controlled: 177 and 188 mmol/L in the first and second trimester, respectively. Peri-partum management required a coordinated team approach including a high-calorie and restricted diet to reduce the risk of acute metabolic decompensation. During the induced labour she required 10% dextrose infusions.Post-partum it took the mother a long time to recover from childbirth -her appetite was poor due to post-natal depression and her body weight decreased rapidly by 11 kg within 3 weeks after childbirth, resulting in a spike in phytanic acid to 366 mmol/L. Measures were taken to minimise the risk of acute neurological decompensation. The infant was unaffected and has made normal developmental progress in the subsequent 2 years.

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Section: Discussionmentioning

confidence: 84%

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

et al. 2016

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“…Given the recurrent observation of defective dentition in patients with PEX1 mutations [Poll‐The et al., ], PEX1 and possibly other PEX genes likely contribute to this phenotype, too. In contrast to Usher syndrome and other deafblindness disorders, therapeutic options do exist for patients with mild PBD who may benefit from a phytanic acid‐restricted diet and extracorporeal lipid apheresis [Baldwin et al., ; Ruether et al., ; Kohlschütter et al., ]. The unusual additional symptom of enamel dysplasia may represent a shortcut to the correct diagnosis, enabling specific treatment.…”

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confidence: 99%

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

et al. 2015

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Deafblindness is part of several genetic disorders. We investigated a consanguineous Egyptian family with two siblings affected by congenital hearing loss and retinal degeneration, initially diagnosed as Usher syndrome type 1. At teenage, severe enamel dysplasia, developmental delay, and microcephaly became apparent. Genome-wide homozygosity mapping and whole-exome sequencing detected a homozygous missense mutation, c.1238G>T (p.Gly413Val), affecting a highly conserved residue of peroxisomal biogenesis factor 6, PEX6. Biochemical profiling of the siblings revealed abnormal and borderline plasma phytanic acid concentration, and cerebral imaging revealed white matter disease in both. We show that Pex6 localizes to the apical extensions of secretory ameloblasts and differentiated odontoblasts at early stages of dentin synthesis in mice, and to cilia of retinal photoreceptor cells. We propose PEX6, and possibly other peroxisomal genes, as candidate for the rare cooccurrence of deafblindness and enamel dysplasia. Our study for the first time links peroxisome biogenesis disorders to retinal ciliopathies.

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“…About one third of the patients present with shortened metacarpal and 4th metatarsal bones (Wierzbicki et al 2000(Wierzbicki et al , 2002R€ uether et al 2010). The disease often starts with nyctalopia caused by retinitis pigmentosa, and anosmia.…”

Section: Discussionmentioning

confidence: 99%