Abstract
IntroductionRefsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations.Case presentationWe present the cases of two brothers with a diagnosis of retinitis pigmentosa from childhood in whom Refsum disease was subsequently diagnosed midlife, after routine enquiry into hand and feet abnormalities. Subsequent treatment through dietary modification stabilised visual impairment and has prevented development of neurological complications to date.ConclusionIt is therefore important to consider the diagnosis of Refsum disease in any patient with autosomal recessive or simplex retinitis pigmentosa, and to enquire about the presence of "unusual" feet or hands in such patients.
Highlights
Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations
We present the cases of two brothers with a diagnosis of retinitis pigmentosa from childhood in whom Refsum disease was subsequently diagnosed midlife, after routine enquiry into hand and feet abnormalities
A blood sample was sent for biochemical analysis, showing serum phytanic acid levels which were raised at 297 μm/L
Summary
Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations. Following clinical examination and electrodiagnostic testing in South Africa a diagnosis of retinitis pigmentosa (RP) was made He underwent uncomplicated cataract extraction with lens implantation in the right eye at the age of 40. Examination of the ocular fundi showed extensive perivascular bone spicule intra-retinal pigmentation in the peripheral retinae (Figure 2) He had abnormal toes with a short 4th metatarsal similar to his elder brother. Both brothers started a special RD diet and serum phytanic acid levels have been reduced significantly as a consequence Their visual impairment is unchanged, the younger sibling reported an improvement in his sense of taste and smell and neither sibling has shown any sign of neurological complications to date
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