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

Title:

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

Creator:

Kousal, B., Honzík, T., Hansíková, H., Ondrušková, N., Čechová, A., Tesařová, M., Stránecký, V., Meliška, M., Michaelides, M., and Lišková, P.

Identifier:

https://cdk.lib.cas.cz/client/handle/uuid:2df75c68-0dd1-404b-a1b2-324d57d8be07
uuid:2df75c68-0dd1-404b-a1b2-324d57d8be07

Subject:

retinal dystrophy, SRD5A3-CDG, SRD5A3, and novel variant

Type:

model:article and TEXT

Format:

bez média and svazek

Description:

Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a severe metabolic disease manifesting as muscle hypotonia, developmental delay, cerebellar ataxia and ocular symptoms; typically, nystagmus and optic disc pallor. Recently, early onset retinal dystrophy has been reported as an additional feature. In this study, we summarize ocular phenotypes and SRD5A3 variants reported to be associated with SRD5A3-CDG. We also describe in detail the ophthalmic findings in a 12-year-old Czech child harbouring a novel homozygous variant, c.436G>A, p.(Glu146Lys) in SRD5A3. The patient was reviewed for congenital nystagmus and bilateral optic neuropathy diagnosed at 13 months of age. Examination by spectral domain optical coherence tomography and fundus autofluorescence imaging showed clear signs of retinal dystrophy not recognized until our investigation. Best corrected visual acuity was decreased to 0.15 and 0.16 in the right and left eye, respectively, with a myopic refractive error of -3.0 dioptre sphere (DS) /-2.5 dioptre cylinder (DC) in the right and -3.0 DS / -3.0 DC in the left eye. The proband also had optic head nerve drusen, which have not been previously observed in this syndrome. and Corresponding author: Petra Lišková

Language:

English

Rights:

http://creativecommons.org/publicdomain/mark/1.0/
policy:public

Coverage:

[134]-141

Source:

Folia biologica | 2019 Volume:65 | Number:3

Harvested from:

CDK

Metadata only:

false