Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG)

Ophthalmic Genetics
Arif O Khan

Abstract

Early-onset retinal dystrophy is usually isolated but can also be the presenting manifestation of an undiagnosed systemic disease. The purpose of this report is to highlight the initial presentation of a girl with early-onset retinal dystrophy and chronic dermatitis who was found to have an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG). Retrospective case report. A 13-year-old Baluchi girl was referred for evaluation of low vision since soon after birth. Clinical exam confirmed retinal dystrophy. She also had developmental disability and chronic dermatitis. Brain MRI was normal. Whole exome and confirmatory Sanger sequencing uncovered homozygosity for a SRDA3 deletion (p.Gln96delinsX) that was previously reported in two other Baluchi SRDA3-CDG families with ocular coloboma, optic atrophy, atopic dermatitis, cerebellar hypoplasia, and developmental disability. Early-onset retinal dystrophy was not mentioned in those two families but has since been documented in other SRDA3-CDG families harboring different biallelic variants in the gene. Early-onset retinal dystrophy with chronic dermatitis should raise suspicion for biallelic SRDA3 mutations, particularly in the context of developmental disability. Exome sequenci...Continue Reading

References

Jul 18, 2002·Journal of Inherited Metabolic Disease·V PrietschG F Hoffmann
Sep 21, 2010·Brain : a Journal of Neurology·Eva MoravaDirk J Lefeber
Jun 10, 2011·European Journal of Human Genetics : EJHG·Sara J BownePeter Humphries
Feb 7, 2012·Molecular Genetics and Metabolism·J E H GründahlT Marquardt
Feb 26, 2015·BMC Medical Genetics·Heather M McLaughlinUNKNOWN MedSeq Project
Mar 3, 2017·JAMA Ophthalmology·Rachel L TaylorUNKNOWN UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project
Oct 29, 2017·European Journal of Medical Genetics·Romain PéanneJaak Jaeken

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Citations

May 20, 2020·European Journal of Human Genetics : EJHG·Jaak JaekenGert Matthijs

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