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18-12-2023 | Pigmentary Retinopathy | Short Communication

Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship

Authors: Stéphane Abramowicz, Alexandre Dentel, Maxime Chouraqui, Bahram Bodaghi, Sara Touhami

Published in: Neurogenetics | Issue 1/2024

Abstract

Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (AVED). The following short case series describes a novel form of retinopathy in AVED. We describe two patients with AVED belonging to the same consanguineous sibship. Both presented an unusual retinopathy consisting of scattered, multifocal, nummular, hyperautofluorescent atrophic retinal patches. The retinopathy remained stable under vitamin E supplementation. We hypothesize these changes to be the result of arrested AVED-related RP following early supplementation with α-tocopherol acetate.

Schuelke M (1993) In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW et al (eds) GeneReviews®Ataxia with vitamin E deficiency. University of Washington, Seattle, Seattle (WA)

Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y et al (1995) Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the α-tocopherol–transfer protein. N Engl J Med 333:1313–1319. https://doi.org/10.1056/NEJM199511163332003CrossRefPubMed

Thapa S, Shah S, Chand S, Sah SK, Gyawali P, Paudel S et al (2022) Ataxia due to vitamin E deficiency: a case report and updated review. Clin Case Rep:10. https://doi.org/10.1002/ccr3.6303

Lim Y, Traber MG (2007) Alpha-tocopherol transfer protein (α-TTP): insights from alpha-tocopherol transfer protein knockout mice. Nutr Res Pract 1:247. https://doi.org/10.4162/nrp.2007.1.4.247CrossRefPubMedPubMedCentral

Muller DPR (2010) Vitamin E and neurological function. Mol Nutr Food Res 54:710–718. https://doi.org/10.1002/mnfr.200900460CrossRefPubMed

Tomasi LG (1979) Reversibility of human myopathy caused by vitamin E deficiency. Neurology 29:1182–1186. https://doi.org/10.1212/wnl.29.8.1182CrossRefPubMed

Rosenblum JL, Keating JP, Prensky AL, Nelson JS (1981) A progressive neurologic syndrome in children with chronic liver disease. N Engl J Med 304:503–508. https://doi.org/10.1056/NEJM198102263040902CrossRefPubMed

Satel SL, Riely CA (1986) Vitamin E deficiency and neurologic dysfunction in children. N Engl J Med 314:1389–1390. https://doi.org/10.1056/nejm198605223142116CrossRefPubMed

Alvarez F, Landrieu P, Laget P, Lemonnier F, Odièvre M, Alagille D (1983) Nervous and ocular disorders in children with cholestasis and vitamin A and E deficiencies. Hepatology 3:410–414. https://doi.org/10.1002/hep.1840030321CrossRefPubMed

10.

Okebukola PO, Kansra S, Barrett J (2020) Vitamin E supplementation in people with cystic fibrosis. Cochrane Database Syst Rev 2020. https://doi.org/10.1002/14651858.CD009422.pub4

11.

Henri-Bhargava A, Melmed C, Glikstein R, Schipper HM (2008) Neurologic impairment due to vitamin E and copper deficiencies in celiac disease. Neurology 71:860–861. https://doi.org/10.1212/01.wnl.0000325473.13088.18CrossRefPubMed

12.

Howard L, Ovesen L, Satya-Murti S, Chu R (1982) Reversible neurological symptoms caused by vitamin E deficiency in a patient with short bowel syndrome. Am J Clin Nutr 36:1243–1249. https://doi.org/10.1093/ajcn/36.6.1243CrossRefPubMed

13.

Muller DP, Lloyd JK, Bird AC (1977) Long-term management of abetalipoproteinaemia. Possible role for vitamin E. Arch Dis Child 52:209–214. https://doi.org/10.1136/adc.52.3.209CrossRefPubMedPubMedCentral

14.

Robson AG, Frishman LJ, Grigg J, Hamilton R, Jeffrey BG, Kondo M et al (2022) ISCEV standard for full-field clinical electroretinography (2022 update). Doc Ophthalmol 144:165–177. https://doi.org/10.1007/s10633-022-09872-0CrossRefPubMedPubMedCentral

15.

Yokota T, Shiojiri T, Gotoda T, Arai H (1996) Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med 335:1770–1771. https://doi.org/10.1056/NEJM199612053352315CrossRefPubMed

16.

Yokota T, Shiojiri T, Gotoda T, Arita M, Arai H, Ohga T et al (1997) Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the ?-Tocopherol transfer protein gene. Ann Neurol 41:826–832. https://doi.org/10.1002/ana.410410621CrossRefPubMed

17.

Di Donato I, Bianchi S, Federico A (2010) Ataxia with vitamin E deficiency: update of molecular diagnosis. Neurol Sci 31:511–515. https://doi.org/10.1007/s10072-010-0261-1CrossRefPubMed

18.

Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel J-L et al (1998) Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet 62:301–310. https://doi.org/10.1086/301699CrossRefPubMedPubMedCentral

19.

Euch-Fayache GE, Bouhlal Y, Amouri R, Feki M, Hentati F (2014) Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. Brain 137:402–410. https://doi.org/10.1093/brain/awt339CrossRefPubMed

20.

Benomar A, Yahyaoui M, Meggouh F, Bouhouche A, Boutchich M, Bouslam N et al (2002) Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. J Neurol Sci 198:25–29. https://doi.org/10.1016/S0022-510X(02)00057-6CrossRefPubMed

21.

Goss-Sampson MA, Kriss T, Muller DPR (1998) Retinal abnormalities in experimental vitamin E deficiency. Free Radic Biol Med 25:457–462. https://doi.org/10.1016/S0891-5849(98)00096-3CrossRefPubMed

22.

Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J (2001) Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the α-tocopherol transfer protein gene. Jpn J Ophthalmol 45:672–676. https://doi.org/10.1016/S0021-5155(01)00425-7CrossRefPubMed

23.

Gabsi S, Gouider-Khouja N, Belal S, Fki M, Kefi M, Turki I et al (2001) Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol 8:477–481. https://doi.org/10.1046/j.1468-1331.2001.00273.xCrossRefPubMed

24.

Marzouki N, Benomar A, Yahyaoui M, Birouk N, Elouazzani M, Chkili T et al (2005) Vitamin E deficiency ataxia with (744 del A) mutation on α-TTP gene: genetic and clinical peculiarities in Moroccan patients. Eur J Med Genet 48:21–28. https://doi.org/10.1016/j.ejmg.2005.01.014CrossRefPubMed

Title: Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship
Authors: Stéphane Abramowicz
Alexandre Dentel
Maxime Chouraqui
Bahram Bodaghi
Sara Touhami
Publication date: 18-12-2023
Publisher: Springer Berlin Heidelberg
Keywords: Pigmentary Retinopathy
Night-Blindness
Retinal Dystrophy
Published in: Neurogenetics / Issue 1/2024
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-023-00741-9

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