Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function

• Published in: Acta Paediatrica 2016-12, Vol.105 (12), p.1451-1460
• Main Authors: Fahnehjelm, Kristina Teär, Liu, Ying, Olsson, David, Amrén, Urban, Haglind, Charlotte Bieneck, Holmström, Gerd, Halldin, Maria, Andreasson, Sten, Nordenström, Anna
• Format: Article
• Language: English
• Subjects: acid; Adolescent; Adult; Cardiomyopathies - complications; Cardiomyopathies - diet therapy; Cardiomyopathies - physiopathology; Child; Child, Preschool; children; Chorioretinal atrophy; chorioretinopathy; Clinical Medicine; Cohort Studies; Dehydrogenases; Electroretinography; Endocrinology and Diabetes; Endokrinologi och diabetes; g1528c mutation; Humans; identification; Klinisk medicin; Lipid Metabolism, Inborn Errors - complications; Lipid Metabolism, Inborn Errors - diet therapy; Lipid Metabolism, Inborn Errors - physiopathology; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Male; Medical and Health Sciences; Medicin och hälsovetenskap; Metabolism; Mitochondrial Myopathies - complications; Mitochondrial Myopathies - diet therapy; Mitochondrial Myopathies - physiopathology; mitochondrial trifunctional protein; Mitochondrial Trifunctional Protein - deficiency; Nervous System Diseases - complications; Nervous System Diseases - diet therapy; Nervous System Diseases - physiopathology; Oftalmologi; Ophthalmology; oxidation; Retinal Diseases - diagnosis; Retinal Diseases - etiology; retinopathy; Rhabdomyolysis - complications; Rhabdomyolysis - diet therapy; Rhabdomyolysis - physiopathology; Young Adult
• ISSN: 0803-5253; 1651-2227; 1651-2227
• DOI: 10.1111/apa.13536

Aim There have been few studies on long‐term electroretinographic findings in patients with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD). This study correlated long‐term electroretinographic findings with age, metabolic control and clinical symptoms. Methods We examined 12 Swedish patients with LCHADD. Visual acuity testing, fundus examinations, optical coherence tomography and electroretinography were performed. The results were correlated to age, the levels of 3‐hydroxyacylcarnitine and acylcarnitine and clinical metabolic control. Results Blindness or moderate visual impairment was found in two patients. Retinal pigmentation, atrophy and fibrosis were present in 11, seven and one of the patients, respectively, and optical coherence tomography showed retinal thinning in three of the six patients examined. Electroretinography was performed on 11 of the 12 patients. It was pathological, with reduced rod and cone responses, in five patients, subnormal in four and was related to poor clinical metabolic control and severe neonatal symptoms. Repeated electroretinographies revealed reduced function with increasing age. Conclusion More than 80% of the LCHADD patients developed pathological or subnormal retinal function. This was more pronounced in patients with neonatal symptoms, but ameliorated by strict dietary treatment. Annual ophthalmological follow‐ups, with electroretinography every second or third year, are recommended.