EPOS

European Paediatric Ophthalmological Society

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Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency

Soeldner Hansj, O'Keefe Michael, Lanigan Bernadette
¹The Children's Hospital, Department of Paediatric Ophthalmology, Temple Street, Dublin 9, Ireland

Purpose:This case study of two patients with long chain 3-hydroxy-acyl-coA dehydrogenase deficiency (LCHAD) describes the clinical features of this disorder. Methods:The retrospective case histories of two 12-year-old female patients with LCHAD deficiency are reported. Results:The first patient, a 12-year-old girl, developed gastrointestinal symptoms and a cardiomyopathy in the first six months of life. She was diagnosed to suffer from LCHAD and a carbohydrate-rich diet with medium chain fat supplementation was implemented. At the age of six years a pigmentary retinopathy was diagnosed. Electroretinogram (ERG) and visual evoked potentials (VEP) showed no abnormalities. She is hypermetropic (+3.50 diopters sphere each eye) and the unaided visual acuities of each eye have remained 20/20. Automated Humphrey-perimetry demonstrated paracentral field losses with each eye. The second patient, a 12-year-old girl, was diagnosed with LCHAD in the first year of life and a strict diet was implemented. She suffered from recurrent episodes of diarrhoea, fatigue and tonsillitis, but no organomegaly or cardiomyopathy was noted. Examination of her eyes showed a pigmentary retinopathy with marked peripheral hypopigmentation and macular changes with pigment clumping. She is myopic and although her best corrected visual acuities have remained 20/20 each eye (right eye -3.75 diopters sphere and left eye -3.25 diopters sphere), she has developed severe night vision problems in recent years. Electrophysiological testing revealed a low-amplitude ERG. Conclusion:Children with retinal dystrophy should be tested for this disorder, especially if other symptoms have occurred. Early recognition of LCHAD deficiency and the implementation of a diet can increase the life expectancy.