Journal article

Authors list: Kakkassery, V; Koschmieder, A.; Walther, F.; Lehbrink, R.; Bertsche, A.; Wortmann, S. B.; Buchmann, J.; Jaeger, M.; Friedburg, C.; Lorenz, B.; Juenemann, A.

Publication year: 2021

Pages: 383-390

Journal: Ophthalmologe

Volume number: 118

Issue number: 4

ISSN: 0941-293X

eISSN: 1433-0423

DOI Link: https://doi.org/10.1007/s00347-020-01126-1

Publisher: Springer

Abstract: 
Cerebral folate deficiency (CFD) results in neurological alterations and a massive degeneration of the choroid/retina if left untreated, which limit the visual field and visual acuity. This article reports the case of a female patient with CFD, who developed autistic personal characteristics prior to reaching school age and first started to speak at the age of 3 years. At the age of 6 years she was presented because of unclear reduced visual acuity in the right eye. At that time mild bilateral peripheral chorioretinal atrophy was present, which subsequently became more pronounced. Additionally, a centrally emphasized chorioretinal atrophy further developed. Visual acuity of both eyes progressively deteriorated until stagnating at 0.1 at the age of 14 years. The causal assignment of the findings of the patient was not possible for many years. Choroideremia was excluded by molecular genetic testing (CHMgene with no mutations) and gyrate atrophy was ruled out by a normal ornithine level. The existence of a mitochondrial disease was almost completely excluded by exome sequencing. After the onset of further nonocular symptoms, e.g. neuromuscular disorders, electroencephalograph (EEG) alterations and autistic disorder, intensified laboratory diagnostics were performed in the treating pediatric hospital. Finally, an extremely low level of the folic acid metabolite 5-methyltetrahydrofolate was detected in the cerebrospinal fluid (CSF) leading to the diagnosis of CFD. High-dose substitution treatment with folic acid was subsequently initiated. After excluding the presence of a pathogenic mutation of theFOLR1gene for the cerebral folate receptor 1, a high titer blocking autoantibody against cerebral folate receptor 1 was detected as the cause.

Harvard Citation style: Kakkassery, V., Koschmieder, A., Walther, F., Lehbrink, R., Bertsche, A., Wortmann, S., et al. (2021) Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease?, Ophthalmologe, 118(4), pp. 383-390. https://doi.org/10.1007/s00347-020-01126-1

APA Citation style: Kakkassery, V., Koschmieder, A., Walther, F., Lehbrink, R., Bertsche, A., Wortmann, S., Buchmann, J., Jaeger, M., Friedburg, C., Lorenz, B., & Juenemann, A. (2021). Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease?. Ophthalmologe. 118(4), 383-390. https://doi.org/10.1007/s00347-020-01126-1