Abstract
Purpose To assess the long-term efficacy of combined vitamin A and E treatment in preventing retinal degeneration in patients with abetalipoproteinaemia (ABL) or homozygous hypobetalipoproteinaemia (HBL).
Methods Ten patients with ABL and 3 with homozygous HBL who were treated with oral supplements of vitamins A and E were studied. Systemic, ophthalmological and electroretinographic follow-up for a mean of 11.7 years (range 4-20 years) after onset of treatment was evaluated.
Results Despite vitamin A and E treatment, 7 of 10 patients who began treatment prior to 2 years of age and all 3 patients who began treatment later in life manifested unusual fundoscopic pigmentary changes over time. At the end of follow-up, 11 of 13 patients had subnormal mixed cone-rod electroretinogram amplitudes. Seven of 10 patients for whom perimetry was available had mild to severe constriction of the visual fields.
Conclusions Combined oral vitamin A and E supplementation that is initiated prior to 2 years of age can markedly attenuate the severe retinal degeneration that is associated with untreated ABL or homozygous HBL. Yet, fundoscopic and functional retinal changes do occur despite early initiation of vitamin treatment. Therefore, the adequacy of the present treatment protocol for ABL and homozygous HBL should be re-evaluated.
Similar content being viewed by others
Article PDF
References
Bassen FA, Kornzweig AL . Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 1950;5:381–7.
Wetterau JR, Aggerbeck LP, Bouma ME, Eisenberg C, Munck A, Hermier M, et al. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 1992;258:999–1001.
Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB, et al. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet 1995;57:1298–310.
Sharp D, Blinderman L, Combs KA, Kienzle B, Ricci B, Wager Smith K, et al. Cloning and gene defects in microsomal triglyercide transfer protein associated with abetalipoproteinaemia. Nature 1993;365:65–9.
Granot E, Deckelbaum R . Familial hypobetalipoproteinemia: differences in lipoprotein structure and composition. Ann Nutr Metab 1993;37:258–61.
Black JT . Neuromuscular diseases that affect the eye. Int Ophthalmol Clin 1978;18:83–121.
Yee RD, Cogan DG, Zee DS . Ophthalmoplegia and dissociated nystagmus in abetalipoproteinemia. Arch Ophthalmol 1976;94:571–5.
Miller RG, Davis CJ, Illingworth DR, Bradley W . The neuropathy of abetalipoproteinemia. Neurology 1980;30:1286–91.
Tchicaloff M . Neuro-ophthalmologic involvement in 2 cases of dyslipidosis. Rev Otoneuroophtalmol 1969;41:401.
Duker JS, Belmont J, Bosley TM . Angioid streaks associated with abetalipoproteinemia. Case. Arch Ophthalmol 1987;105:1173–4.
Cogan DG, Chu FC, Reingold D, Barranger J . Ocular motor signs in some metabolic diseases. Arch Ophthalmol 1981;99:1802–8.
Kornzweig AL . Bassen-Kornzweig syndrome: present status. J Med Genet 1970;7:271–6.
Sturman RM . The Bassen-Kornzweig syndrome: 18 years in evolution. J Mt Sinai Hosp N Y 1968;35:489–517.
Cogan DG, Rodrigues M, Chu FC, Schaefer EJ . Ocular abnormalities in abetalipoproteinemia A. Ophthalmology 1984;91:991–8.
Bishara S, Merin S, Cooper M, Azizi E, Delpre G, Deckelbaum RJ . Combined vitamin A and E therapy prevents retinal electrophysiological deterioration in abetalipoproteinemia. Br J Ophthalmol 1982;66:767–70.
Granot E, Deckelbaum R . Hypobetalipoproteinemia in childhood: a review. J Pediatr 1989;115:171–85.
Runge P, Muller DP, McAllister J, Calver D, Lloyd JK, Taylor D . Oral vitamin E supplements can prevent the retinopathy of abetalipoproteinemia. Br J Ophthalmol 1986;70:166–73.
Merin S, Shapira Y, Szabo G, Auerbach E . Electro-physiological studies of the visual system in mentally retarded children. J Pediatr Ophthalmol 1973;10:217–22.
Arden B, Kelsey J . Changes produced by light in the standing potential of the human eye. J Physiol (Lond) 1962;161:189–204.
Riis R, Sheffy B, Loew E, Kern T, Smith J . Vitamin E deficiency retinopathy in dogs. Am J Vet Res 1981;42:74–9.
Hayes K . Retinal degeneration in monkeys induced by deficiencies of vitamin E or A. Invest Ophthalmol Vis Sci 1974;13:499–519.
Robison W, Kuwabara T, Bieri J . Deficiencies of vitamins E and A in the rat: retinal damage and lipofuscin accumulation. Invest Ophthalmol Vis Sci 1980;19:1030–7.
Tanyel M, Mancano L . Neurologic findings in vitamin E deficiency. Am Fam Physician 1997;55:197–201.
Sperling MA, Hiles DA, Kennerdell JS . Electroretinographic responses following vitamin A therapy in abetalipoproteinemia. Am J Ophthalmol 1972;73:342–51.
Gouras P, Carr RE, Gunkel RD . Retinitis pigmentosa in abetalipoproteinemia: effect of vitamin A. Invest Ophthalmol 1971;10:784–93.
Wolf OH, Lloyd JK, Tonks EL . Abetalipoproteinemia with special reference to the visual defect. Exp Eye Res 1964;3:439–42.
Muller DPR, Lloyd JK, Bird AC . Long-term management of abetalipoproteinemia. Arch Dis Child 1977;52:209–14.
Muller D, Lloyd L, Bird A . Effect of large oral doses of vitamine E on the neurological sequelae of patients with abetalipoproteinemia. Ann NY Acad Sci 1982;393:133–40.
Muller D, Lloyd J, Wolff O . Vitamin E and neurological function. Lancet 1983;I:225–7.
Brin MF, Pedley TA, Lovelace RE, Emerson RG, Gouras P, MacKay C, et al. Electrophysiologic features of abetalipoproteinemia: functional consequences of vitamin E deficiency. Neurology 1986;36:669–73.
MacGilchrist AJ, Mills PR, Noble M, Foulds WS, Simpson JA, Watkinson G . Abelalipoproteinaemia in adults: role of vitamin therapy. J Inherit Metab Dis 1988;11:184–90.
Schaefer EJ, Robins SJ, Patton GM, Sandberg MA, Weigel D . Red blood cell membrane phosphatidylethanolamine fatty acid. J Lipid Res 1995;36:1427–33.
Holman RT, Bibus DM, Jeffrey GH, Smethurst P, Crofts JW . Abnormal plasma lipids of patients with retinitis pigmentosa. Lipids 1994;29:61–5.
Hoffman DR, Uauy R, Birch DG . Red blood cell fatty acid levels in patients with autosomal dominant retinitis pigmentosa. Exp Eye Res 1993;57:359–68.
Bernard G, Fosbrooke A, Lloyd J . Neutral lipids of plasma and adipose tissue in abetalipoproteinema. Clin Chim Acta 1970;28:417–22.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Chowers, I., Banin, E., Merin, S. et al. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipo-proteinaemia patients. Eye 15, 525–530 (2001). https://doi.org/10.1038/eye.2001.167
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/eye.2001.167
Keywords
This article is cited by
-
Effectiveness and safety of nutritional supplements in the treatment of hereditary retinal dystrophies: a systematic review
Eye (2017)
-
Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia
Orphanet Journal of Rare Diseases (2016)
-
Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up
Indian Journal of Gastroenterology (2016)
-
Clinical utility gene card for: Abetalipoproteinaemia – Update 2014
European Journal of Human Genetics (2015)
-
Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) – Update 2014
European Journal of Human Genetics (2015)