Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

Abstract

Ophthalmic findings are frequent in CDG syndrome involving both the anterior and posterior segment of the eye. The disorder might lead to abnormal development of the lens or the retina, cause diminished vision, alter ocular motility and intraocular pressure. We suggest routine screening and follow-up for ophthalmological anomalies in all children diagnosed with CDG syndrome to provide early treatment and adequate counselling.

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation

“…Among them are five adults belonging to two families. They showed various combinations of mainly facial dysmorphisms and neurological, ophthalmological, and cutaneous manifestations (Assmann et al 2001;Prietsch et al 2002;Al-Gazali et al 2008;Kahrizi et al 2009Kahrizi et al , 2011Morava et al 2009Morava et al , 2010Cantagrel et al 2010;Gr€ undahl et al 2012;Kara et al 2014;Kasapkara et al 2012). Other clinical symptoms, present in a few patients, were feeding problems, failure to thrive, microcytic anemia, cardiac malformations/hypertrophy, hepatosplenomegaly, and cryptorchidism.…”

“…It affects protein N-glycosylation, as well as the synthesis of mannose-linked glycans, C-mannosylation, and glycophospholipid anchor synthesis. SRD5A3-CDG is characterized by neurological and ophthalmological findings such as nystagmus, visual impairment, microphthalmia, cataract, coloboma (iris, chorioretinal), optic disk hypoplasia, and optic nerve hypoplasia/atrophy (Assmann et al 2001;Prietsch et al 2002;Al-Gazali et al 2008;Kahrizi et al 2009Kahrizi et al , 2011Morava et al 2009Morava et al , 2010Cantagrel et al 2010;Gr€ undahl et al 2012;Kara et al 2014;Kasapkara et al 2012).…”

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

“…Two patients were of European ancestry (Austrian and Polish ancestry) and 5 individuals of Turkish ancestry (Fig 1). Patient IV/14 15 and II/2 16,17 were described without the biochemical/ genetic diagnosis previously. Serum TIEF revealed a type 1 profile characterized by significant increase of disialo-and asialotransferrin and low tetrasialotransferrin in the probands from three families (IV/14, II/2, and II/3; see Supplemental Table 2).…”

De Barsy syndrome and ATP6V0A2-CDG

“…We would appreciate further description and photo documentation of this unique patient, reported by Leao-Teles, as in our own cohort of six patients with De Barsy syndrome and those studied by Kornak et al (personal communication) none of the children had either N-linked or O-linked glycosylation abnormalities, nor mutations in the ATP6V0A2 gene. Eye anomalies are common in N-glycosylation disorders, 6 and strabismus and high myopia have been reported in combined glycosylation disorders. 4 The exceptional observation of corneal abnormalities with a movement disorder in association with ATP6V0A2-CDG indeed widens the range of symptoms evoking glycosylation studies in patients with cutis laxa.…”