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

Abstract:

PURPOSE: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). METHODS:Retrospective case report. RESULTS: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. DISCUSSION:Early-onset retinal dystrophy with chronic dermatitis should raise suspicion for biallelic SRDA3 mutations, particularly in the context of developmental disability. Exome sequencing can be a useful analysis in retinal dystrophy patients with multisystem disease. Homozygosity for the SRDA3 deletion p.Gln96delinsX is not always associated with ocular coloboma.

journal_name

Ophthalmic Genet

journal_title

Ophthalmic genetics

authors

Khan AO

doi

10.1080/13816810.2018.1498529

subject

Has Abstract

pub_date

2018-10-01 00:00:00

pages

628-630

issue

5

eissn

1381-6810

issn

1744-5094

journal_volume

39

pub_type

杂志文章
  • Bilateral papillomacular retinal folds and posterior microphthalmus: new features of a recently established disease.

    abstract::Clinical findings of a 2.5-year-old girl presenting with barely detectable horizontal nystagmus and high hypermetropia are described. Despite the normal appearing anterior segments, the child had posterior microphthalmus and bilateral papillomacular retinal folds, conforming to a recently described, rare congenital di...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:

    authors: Kiratli H,Tümer B,Kadayifçilar S

    更新日期:2000-09-01 00:00:00

  • Clinical, histopathological, and genetic aspects in one case of ligneous conjunctivitis.

    abstract::Ligneous conjunctivitis is an uncommon and recurrent type of chronic conjunctivitis. A prevalent cause of this disease is a Plasminogen deficiency, resulting from recessive mutations in the human encoding plasminogen (PLG) gene. This deficiency affects the conjunctiva and also other mucous membranes. Only few hundred ...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2018.1502791

    authors: Raimann R,Moya R,Anguita R,Kobus R,Pérez M,Gonzalez P

    更新日期:2018-10-01 00:00:00

  • Analysis of the polymorphic variants of RAN and GEMIN3 genes and risk of Primary Open-Angle Glaucoma in the Polish population.

    abstract:BACKGROUND:Glaucoma is considered as a neurodegenerative disorder in which the optic nerve damage leads to irreversible blindness. Many scientific findings indicate miRNA implication in the neurodegeneration process. In this study, we aimed to evaluate the polymorphic variants of miRNA processing genes, RAN (rs14035) a...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2017.1381978

    authors: Molasy M,Walczak A,Przybyłowska-Sygut K,Zaleska-Żmijewska A,Szaflik J,Szaflik JP,Majsterek I

    更新日期:2018-04-01 00:00:00

  • Differences of the anterior segment parameters in children with down syndrome.

    abstract:PURPOSE:The study was undertaken to investigate whether anterior segment findings are different in children with Down syndrome (DS) to normal children and to focus on its clinical significance. METHODS:A cross-sectional case control study was conducted in a total of 38 children with DS and 42 healthy children. This is...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816810.2013.789535

    authors: Aslan L,Aslankurt M,Aksoy A,Gümüşalan Y

    更新日期:2014-06-01 00:00:00

  • Phenotypes in defined genotypes including siblings with Usher syndrome.

    abstract:OBJECTIVE:To characterize visual function in defined genotypes including siblings with Usher syndrome. METHODS:Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fiel...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816810.2010.536064

    authors: Malm E,Ponjavic V,Möller C,Kimberling WJ,Andréasson S

    更新日期:2011-06-01 00:00:00

  • Retinal dystrophy associated with a Kizuna (KIZ) mutation and a predominantly macular phenotype.

    abstract::Introduction: Mutations in Kizuna (KIZ), a gene involved in ciliary function, have been previously associated with rod-cone dystrophy with relative macular sparing and a number of other systemic abnormalities.Purpose: We present a patient with a phenotype dominated by retinal dystrophy and macular cysts as a result of...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2019.1666880

    authors: Zhao Y,Coussa RG,DeBenedictis MJM,Traboulsi EI

    更新日期:2019-10-01 00:00:00

  • Intraretinal hyperreflective foci in PXE-related retinopathy with acquired vitelliform lesions: a long-term follow-up.

    abstract::Purposes: To describe the long-term follow-up of a patient affected by Pseudoxanthoma Elasticum (PXE) and acquired macular vitelliform lesions in both eyes. Material and methods: Case report Results: We reported the 9-year follow-up of a patient affected by PXE. We described the onset and the resolution of the vitelli...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2019.1666882

    authors: Murro V,Mucciolo DP,Giorgio D,Sodi A,Boraldi F,Quaglino D,Virgili G,Rizzo S

    更新日期:2019-08-01 00:00:00

  • Disruption in Bruch membrane in patients with Stargardt disease.

    abstract:PURPOSE:To describe the spectral domain-optical coherence tomography (SD-OCT) findings of two patients with complete defects in the retinal pigment epithelium (RPE) with disruptions in Bruch membrane in Stargardt disease (STGD1). METHODS:Two patients with STGD1 were referred to our clinic for further evaluation. Fundu...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816810.2011.628358

    authors: Park SP,Chang S,Allikmets R,Smith RT,Burke TR,Gregory-Roberts E,Tsang SH

    更新日期:2012-03-01 00:00:00

  • Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy.

    abstract::Mutations in sequestosome 1 (SQSTM1) gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis. Recently, mutation in SQSTM1 was also found to cause a progressive childhood-onset cerebellar ataxia. We describe here a case of progressive childhood-onset cereb...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2019.1666414

    authors: Vedartham V,Sundaram S,Nair SS,Ganapathy A,Mannan A,Menon R

    更新日期:2019-08-01 00:00:00

  • Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation.

    abstract:BACKGROUND:A Chinese family with X-linked juvenile retinoschisis (XLRS) was identified. The purpose of this study was to identify genetic defects in this family and to investigate the visual function during the progression of the disease in the proband from childhood to adulthood. METHODS:The family history was collec...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816810.2011.628359

    authors: Xu F,Sui R,Dong F

    更新日期:2012-06-01 00:00:00

  • A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds.

    abstract::Background: Retinitis punctate albescens (RPA) is a rare form of retinal dystrophy characterized by congenital stationary night blindness and a characteristic fundus appearance. Missense or nonsense mutations in RDH5 in homozygous or heterozygous state have been implicated in RPA.Material and methods: Two consanguineo...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2019.1709124

    authors: Khan R,Shabbir RMK,Raza I,Abdullah U,Naeem MA,Ahmed A,Malik S,Hu Z,Xia K

    更新日期:2020-02-01 00:00:00

  • Modification of the PROM1 disease phenotype by a mutation in ABCA4.

    abstract::Background: The extensive phenotypic heterogeneity of monogenic diseases can be largely traced to intragenic variation; however, recent advances in clinical detection and gene sequencing have uncovered the emerging role of non-allelic variation (i.e. genetic trans-modifiers) in shaping disease phenotypes. Identifying ...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2019.1660382

    authors: Lee W,Paavo M,Zernant J,Stong N,Laurente Z,Bearelly S,Nagasaki T,Tsang SH,Goldstein DB,Allikmets R

    更新日期:2019-08-01 00:00:00

  • Vitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg.

    abstract:OBJECTIVE:To describe the clinical and pathological findings of two large mainland Chinese kindreds with vitreous amyloidosis and associated transthyretin mutation. METHODS:Twenty individuals from two kindreds with vitreous amyloidosis were ascertained. The transtheretin (TTR) gene of each individual was analyzed, and...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816810.2011.599356

    authors: Long D,Zeng J,Wu LQ,Tang LS,Wang HL,Wang H

    更新日期:2012-03-01 00:00:00

  • Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort.

    abstract:BACKGROUND:Fuchs' endothelial corneal dystrophy (FECD) is a complex degenerative disease of the corneal endothelium with genetic predisposition. Pathogenic rare variants have been identified in SLC4A11, LOXHD1, ZEB1, and AGBL1. Association of single nucleotide polymorphisms (SNPs) and CTG trinucleotide repeat expansion...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2018.1474367

    authors: Rao BS,Ansar S,Arokiasamy T,Sudhir RR,Umashankar V,Rajagopal R,Soumittra N

    更新日期:2018-08-01 00:00:00

  • Hereditary high hypermetropia in the Faroe Islands.

    abstract:PURPOSE:To characterize the phenotype of two families with high hypermetropia from the Faroe Islands. METHODS:Ophthalmologic evaluation including ultrasound oculometry and anthropometric measurements. RESULTS:Of the 40 examined family members, 15 individuals (8 males, 7 females; ages: 6-77 years; mean: 36.5 years) ha...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810590918406

    authors: Fuchs J,Holm K,Vilhelmsen K,Rosenberg T,Scherfig E,Fledelius HC

    更新日期:2005-03-01 00:00:00

  • Molecular analysis of Italian patients with congenital glaucoma.

    abstract::Purpose: Congenital glaucoma (CG) results from poorly understood developmental abnormalities of the aqueous drainage structures and is clinically characterized by high intraocular pressure (IOP), epiphora, corneal oedema, photophobia, blepharospasm and ocular enlargement. To date, more than 50 pathogenic mutations in ...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816810.2011.596891

    authors: Giuffre' I

    更新日期:2011-08-04 00:00:00

  • A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family.

    abstract::Background: The present study aims to identify the underlying genetic defects in a Chinese family with autosomal dominant congenital cataracts (ADCC). Methods: Detailed family histories and clinical data were recorded. Targeted exome sequencing of 54 known cataract-associated genes combined with high-throughput next-g...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2020.1855665

    authors: Yu Y,Xu J,Qiao Y,Li J,Yao K

    更新日期:2020-12-04 00:00:00

  • Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.

    abstract:PURPOSE:To perform genotype-phenotype correlations in a family with choroideremia. METHODS:A three-generation family with two affected males and five carriers was the subject of the study. Molecular genetic analysis using single-strand conformation polymorphism analysis (SSCP) was conducted in all subjects, while elec...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1076/opge.24.4.203.17232

    authors: Rudolph G,Preising M,Kalpadakis P,Haritoglou C,Lang GE,Lorenz B

    更新日期:2003-12-01 00:00:00

  • Mutation analysis in Canadian families with choroideremia.

    abstract::Choroideremia (CHM) is an X-linked heritable progressive dystrophy of the choroid and retina. The condition predominantly affects males beginning in early childhood and eventually results in blindness after a period of 30-40 years. The CHM gene was localized to Xq21 and cloned in the past few years. The gene encodes f...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816819609057870

    authors: Nesslinger N,Mitchell G,Strasberg P,MacDonald IM

    更新日期:1996-06-01 00:00:00

  • Analysis of single nucleotide polymorphisms in the SFRS3 and FKBP4 genes in corticosteroid-induced ocular hypertension.

    abstract:BACKGROUND:The use of intravitreal triamcinolone acetonide (IVTA) can cause ocular hypertension. This steroid response appears to be heritable and alleles in the SFRS3 and FKBP4 genes have recently been suggested to play a role. The purpose of the present study was to perform an independent replication study to determi...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816810.2012.716488

    authors: Hogewind BF,Micheal S,Bakker B,Hoyng CB,den Hollander AI

    更新日期:2012-12-01 00:00:00

  • Hunter syndrome (MPS II-B): a report of bilateral vitreous floaters and maculopathy.

    abstract:PURPOSE:To describe bilateral vitreous opacities and maculopathy in a child with Hunter syndrome. METHODS:A case involving fundus examination, photography, and optical coherence tomography. Medline and Embase searches found no reference to vitreous or macular abnormalities in Hunter syndrome. RESULTS:A two-year-old b...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810600677966

    authors: Anawis MA

    更新日期:2006-06-01 00:00:00

  • Epibulbar lipodermoids, preauricular appendages and polythelia in four generations: a new hereditary syndrome?

    abstract::A new syndrome with abnormalities along the first branchial arch and the milk list is described in a family of four affected generations. The characteristics of the syndrome are epibulbar lipodermoids, preauricular appendages and polythelia. The expressivity varies but all affected have supernumerary nipples and preau...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816811003767136

    authors: Goldschmidt E,Jacobsen N

    更新日期:2010-06-01 00:00:00

  • X-linked infantile periodic alternating nystagmus.

    abstract:OBJECTIVE:To describe the clinical and electrophysiological characterization of four family members from three generations who have X-linked infantile periodic alternating nystagmus (XIPAN). METHODS:Complete clinical ophthalmological evaluation, pedigree analysis, electroretinograms (ERG), eye movement recordings (EMR...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810590968014

    authors: Hertle RW,Yang D,Kelly K,Hill VM,Atkin J,Seward A

    更新日期:2005-06-01 00:00:00

  • Investigation of the Rho-kinase Gene Polymorphism in Primary Open-angle Glaucoma.

    abstract:PURPOSE:Genetic factors are shown to have a role in the development of primary open-angle glaucoma (POAG). The aim of this study was to determine the effects of genetic polymorphisms of Rho-kinase (ROCK) genes on the risk of POAG in a Turkish population. METHODS:Genomic DNA was extracted from leukocytes of the periphe...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816810.2014.895016

    authors: Demiryürek S,Okumus S,Bozgeyik İ,Oztuzcu S,Coskun E,Mat E,Durucu E,Tatar MG,Erbagci İ,Gürler B,Demiryürek AT

    更新日期:2016-01-01 00:00:00

  • Atrophic chorioretinal scar and focal scleral bowing following thermochemotherapy with a diode laser for retinoblastoma.

    abstract::One of the treatment options for intraocular retinoblastoma is thermochemotherapy with diode laser combined with chemotherapy. Very little is known about the evolution of laser scars resulting from diode laser treatment for retinoblastoma. We report a case of atrophic chorioretinal scar and focal scleral bowing after ...

    journal_title:Ophthalmic genetics

    pub_type: 信件

    doi:10.1080/13816810500481907

    authors: de Graaf P,Castelijns JA,Moll AC,Imhof SM,Schouten-van Meeteren AY

    更新日期:2006-03-01 00:00:00

  • Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome.

    abstract:BACKGROUND:Alström syndrome is a rare genetic ciliopathy caused by a mutation in the ALMS1 gene. The syndrome is characterized by cone-rod dystrophy, dilated myocardiopathy, childhood obesity and sensorineural hearing loss. To date, cystoid macular edema has not been reported. METHODS:A female affected by Alström synd...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816810.2015.1094493

    authors: Larrañaga-Fragoso P,Pastora N,Bravo-Ljubetic L,Peralta J,Abelairas-Gómez J

    更新日期:2016-12-01 00:00:00

  • Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene.

    abstract::Mutations in the peripherin/RDS gene have been identified in families with various retinopathies including those affecting primarily the macula and those restricted to the retinal periphery. Here, we describe the clinical findings of two sisters with late-onset central areolar choroidal dystrophy (CACD). The two sibli...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810600976822

    authors: Keilhauer CN,Meigen T,Stöhr H,Weber BH

    更新日期:2006-12-01 00:00:00

  • Cilioretinal artery: Vasculogenesis might be promoted by plasminogen activator inhibitor-1 5G allele.

    abstract:BACKGROUND:Cilioretinal arteries (CAs) represent enlargements of microscopic and early established collaterals formed via vasculogenesis between choroidal and retinal circulations. We aimed to investigate whether genetic tendency to thrombosis due to well-known gene polymorphisms may induce CA vasculogenesis in embryon...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2016.1253104

    authors: Yilmaz S,Ardagil A,Akalin I,Altinel MG,Dag Y,Kurum E,Koyun E,Ari Yaylali S,Bayramlar H

    更新日期:2017-09-01 00:00:00

  • A computer-based register for inherited retinal dystrophies in Southern Africa.

    abstract::A genetic register for inherited retinal degenerative disorders (RDDs) has been established at the Division of Human Genetics, UCT Medical School, Cape Town, South Africa. The primary role of the register is to monitor the progress of molecular research and to facilitate the efficient delivery of services, including g...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1076/opge.23.1.61.2207

    authors: Rebello MT,Greenberg LJ,Ramesar RS

    更新日期:2002-03-01 00:00:00

  • Polymorphism Analysis of VSX1 and SOD1 Genes in Greek Patients with Keratoconus.

    abstract:BACKGROUND:A number of mutations in the VSX1 and SOD1 genes have been reported to be associated with keratoconus (KC), however the results from different studies are controversial. In this study, we conducted the genotyping of common polymorphisms [VSX1: D144E, H244R, R166W, G160D; SOD1: intronic 7-base deletion (c.169...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816810.2013.843712

    authors: Moschos MM,Kokolakis N,Gazouli M,Chatziralli IP,Droutsas D,Anagnou NP,Ladas ID

    更新日期:2015-01-01 00:00:00