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Most patients with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency develop pathological or subnormal retinal function
Author(s) -
Fahnehjelm Kristina Teär,
Liu Ying,
Olsson David,
Amrén Urban,
Haglind Charlotte Bieneck,
Holmström Gerd,
Halldin Maria,
Andreasson Sten,
Nordenström Anna
Publication year - 2016
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.13536
Subject(s) - medicine , electroretinography , retinal , atrophy , pathological , ophthalmology , fundus (uterus) , retinopathy , visual acuity , diabetes mellitus , endocrinology
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.