Fol. Biol. 2019, 65, 134-141

https://doi.org/10.14712/fb2019065030134

Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case

B. Kousal1,2, T. Honzík2, H. Hansíková2, N. Ondrušková2, A. Čechová2, M. Tesařová2, V. Stránecký2, M. Meliška1, M. Michaelides3,4, Petra Lišková1,2

1Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
2Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
3Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom
4UCL Institute of Ophthalmology, University College London, London, United Kingdom

Received May 2019
Accepted June 2019

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