Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.

Abstract:

BACKGROUND:Mutation in eye developmental genes has been reported to cause anophthalmia and microphthalmia. However, in India, especially in the Western Indian population, such reports are scarce. Hence, the present study aims to investigate mutations in 15 ocular developmental genes in patients with anophthalmia and microphthalmia in the western region of India. MATERIALS AND METHODS:Genomic DNA was isolated from the blood of 52 individuals affected with microphthalmia and anophthalmia, and 50 healthy normal controls. Polymerase chain reaction (PCR) was carried out for 15 genes including BMP4, CRYBA4, FOXE3, GDF6, GJA3, GJA8, MITF, OTX2, PAX6, PITX3, RAX, SIX3, SIX6, SOX2, and VSX2 using gene-specific primers spanning the exon-intron boundaries and part of a promoter region. The amplified PCR products were purified and then subjected to Sanger's bi-directional sequencing. Nucleotide variations were examined using a basic local alignment search tool (BLAST). RESULTS:Bi-directional sequencing identified 8 novel and 14 known variations. Out of this, the variations GJA3-c.92T>A; p.Ile31Asn, SOX2-c.542C>A; p.Pro181Gln and SOX2-c.541_542delinsGA; p.Pro181Glu were found to be deleterious by in silico analysis. The GJA3-p.Ile31Asn mutation was identified in a patient with bilateral microphthalmia, microcornea, and membranous cataract. The SOX2-p.Pro181Gln and SOX2-p.Pro181Glu mutations were identified in patients with isolated bilateral microphthalmia and microphthalmia with microcornea, respectively. A novel nondeleterious missense variation was identified in the GJA8 gene in a patient with anophthalmia. CONCLUSION:These results support the crucial role of GJA3 and SOX2 in eye development and indicate a detailed functional study to understand the molecular mechanisms underlying the disease pathology.

journal_name

Ophthalmic Genet

journal_title

Ophthalmic genetics

authors

Vidya NG,Rajkumar S,Vasavada AR

doi

10.1080/13816810.2018.1436184

subject

Has Abstract

pub_date

2018-06-01 00:00:00

pages

344-352

issue

3

eissn

1381-6810

issn

1744-5094

journal_volume

39

pub_type

杂志文章
  • Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy.

    abstract:OBJECTIVE:This study was undertaken with the objective to investigate the potential involvement of VAX2 in retinal degeneration. METHODS:A cohort of macular and cone dystrophy patients (n = 70) was screened for variant identification. Polymerase chain reaction (PCR) products were purified using ExoSAP-IT. Direct seque...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2018.1484927

    authors: Alfano G,Waseem NH,Webster AR,Bhattacharya SS

    更新日期:2018-08-01 00:00:00

  • Associations between Rs4244285 and Rs762551 gene polymorphisms and age-related macular degeneration.

    abstract:BACKGROUND:Age-related macular degeneration is the leading cause of blindness in elderly individuals in developed countries. The etiology and pathophysiology of age-related macular degeneration have not been elucidated yet. Knowing that the main pathological change of age-related macular degeneration is formation of dr...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2016.1242018

    authors: Stasiukonyte N,Liutkeviciene R,Vilkeviciute A,Banevicius M,Kriauciuniene L

    更新日期:2017-07-01 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

  • Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata.

    abstract::A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810802697473

    authors: Flaherty MP,Balachandran C,Jamieson R,Engle EC

    更新日期:2009-06-01 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

  • Senior-Løken syndrome and intracranial hypertension.

    abstract:BACKGROUND:Senior-Løken syndrome (SLS) is a rare autosomal recessive disease characterised by nephronophthisis and retinal degeneration, and belongs to a group of genetically heterogeneous disorders known as the ciliopathies. MATERIALS AND METHODS:Case report of a  patient with genetically proven SLS presenting with h...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2020.1766086

    authors: Tay SA,Vincent AL

    更新日期:2020-08-01 00:00:00

  • OCT-guided management of subclinical recurrent retinoblastoma.

    abstract:PURPOSE:Retinoblastoma (Rb) tumor recurrence in the papillary or macular region is a threat to life and visual prognosis respectively, making early detection indispensable. This study demonstrates the value of optical coherence tomography (OCT) in the early detection of subclinical tumor recurrence. METHODS:Since June...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2018.1436183

    authors: Gaillard MC,Houghton S,Stathopoulos C,Munier FL

    更新日期:2018-06-01 00:00:00

  • Fundus phenotype in retinitis pigmentosa associated with EYS mutations.

    abstract:PURPOSE:to report phenotypic and genotypic features in a group of autosomal recessive retinitis pigmentosa (arRP) patients associated with EYS mutations. METHODS:we retrospectively reviewed the clinical records and the molecular genetic data of arRP patients carrying mutations in the EYS gene. All the patients underwe...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2018.1509351

    authors: Mucciolo DP,Sodi A,Passerini I,Murro V,Cipollini F,Borg I,Pelo E,Contini E,Virgili G,Rizzo S

    更新日期:2018-10-01 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

  • SCARB1 rs5888 is associated with the risk of age-related macular degeneration susceptibility and an impaired macular area.

    abstract:BACKGROUND:Age-related macular degeneration (ARMD), a progressive retinal disease, is responsible for an impaired central vision in about 180 million people worldwide. Current options for ARMD prevention and treatment are limited due to an incomplete understanding of disease etiopathogenesis. We aimed to test the hypot...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2016.1203442

    authors: Stanislovaitiene D,Zaliuniene D,Krisciukaitis A,Petrolis R,Smalinskiene A,Lesauskaite V,Tamosiunas A,Lesauskaite V

    更新日期:2017-05-01 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

  • Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.

    abstract::The visual cycle is essential for vision and several genes encoding proteins of the cycle have been found mutated in various forms of inherited retinal dystrophy. We screened 3 genes of the visual cycle. RGR, encoding the retinal pigment epithelium (RPE) G protein-coupled receptor acting in vitro as a photoisomerase; ...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816810.2010.512354

    authors: Ksantini M,Sénéchal A,Bocquet B,Meunier I,Brabet P,Hamel CP

    更新日期:2010-12-01 00:00:00

  • Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis.

    abstract::A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented. Several conditions incorporating ocular and bony limb abnormalities have been described. However, we believe that this family ma...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810490902684

    authors: Quinn SM,Black GC,Biswas S,Clayton-Smith J,Lloyd IC

    更新日期:2004-12-01 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

  • Neurofibromatosis type I and unilateral ophthalmic artery occlusion.

    abstract::Etiological investigation of a 15-year-old boy with left ophthalmic artery occlusion led us to a diagnosis of neurofibromatosis type I as there were numerous large cafe-au-lait spots, axillary freckling, and brain MRI changes consistent with a hamartoma. In light of the present case, ophthalmic artery occlusion may be...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1076/opge.19.2.87.2322

    authors: Saatci AO,Saylam GS,Yasti ZO,Söylev M,Saatci I,Kavukçu S,Memişoğlu B

    更新日期:1998-06-01 00:00:00

  • Optic neuropathy in classical methylmalonic acidemia.

    abstract::Background: Classical MMA, caused by methylmalonyl-CoA mutase deficiency, may result in late-onset dysfunction in several organ systems. To date, 10 cases of optic neuropathy have been reported. The prevalence of optic neuropathy in visually asymptomatic patients has not been determined. This study sought to identify ...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2019.1634740

    authors: AlOwain M,Khalifa OA,Al Sahlawi Z,Hussein MH,Sulaiman RA,Al-Sayed M,Rahbeeni Z,Al-Hassnan Z,Al-Zaidan H,Nezzar H,Al Homoud I,Eldali A,Altonen B,Handoom BS,Mbekeani JN

    更新日期:2019-08-01 00:00:00

  • Association of combined cigarette smoking and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: A meta-analysis.

    abstract:PURPOSE:The age-related maculopathy susceptibility2 (ARMS2)/LOC387715 A69S (rs10490924) polymorphism and cigarette smoking have been shown to have significant association with AMD. In this meta-analysis we used the results of available association studies of combined ARMS2/LOC387715 genotypes and cigarette smoking with...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章,meta分析,评审

    doi:10.1080/13816810.2016.1237664

    authors: Jabbarpoor Bonyadi MH,Yaseri M,Bonyadi M,Soheilian M,Nikkhah H

    更新日期:2017-07-01 00:00:00

  • Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature.

    abstract:PURPOSE:Phototherapeutic keratectomy (PTK) with 193-nm excimer laser is a safe and effective procedure for the treatment of superficial corneal pathology. We aimed to review the use of PTK for the treatment of corneal macular dystrophy (MCD). METHODS:Case report and literature review. RESULTS:A 16-year-old boy presen...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2020.1776335

    authors: Shields M,Craig JE,Souzeau E,Gupta A

    更新日期:2020-08-01 00:00:00

  • Genetic susceptibility to hydroxychloroquine retinal toxicity.

    abstract::Background: Hydroxychloroquine retinal toxicity can occur in up to 7.5% of patients receiving treatment; however, possible genetic risk factors are poorly understood. The main objective of the study was to explore candidate genetic risk factors for retinal toxicity.Materials and Methods: Case-control study of patients...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2020.1747093

    authors: Mack HG,Kowalski T,Lucattini A,Symons RA,Wicks I,Hall AJ

    更新日期:2020-04-01 00:00:00

  • Bilateral complete isolated cryptophthalmos: a case report.

    abstract::Cryptophthalmos is a condition of congenital eyelid malformation most commonly accompanied by syndactyly, urogenital anomalies, and cognitive impairments as in Fraser syndrome. We report on a patient with characteristic features consistent with autosomal dominant bilateral complete isolated cryptophthalmos. This patie...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810500374557

    authors: Egier D,Orton R,Allen L,Siu VM

    更新日期:2005-12-01 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

  • Juvenile cataract in association with tuberous sclerosis complex.

    abstract:BACKGROUND:Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas occurring in multiple organ systems including the brain, kidneys, heart, lungs, liver, skin, and the eyes. Typical retinal findings associated with TSC include astrocytic hamartoma and achromic patch...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2020.1755989

    authors: Geffrey AL,Geenen KR,Abati E,Greenstein SH,VanderVeen DK,Levy RL,Davidson SL,McGarrey MP,Thiele EA,Aronow ME

    更新日期:2020-08-01 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

  • A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.

    abstract::Background: Chromosomal deletion involving the 6p25 region results in a clinically recognizable syndrome characterized by anterior eye chamber anomalies with risk of glaucoma and non-ocular malformations (6p25 deletion syndrome). We report a newborn infant case of childhood glaucoma with a combination of partial monos...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1080/13816810.2020.1744019

    authors: Hosono K,Kawase K,Kurata K,Niimi Y,Saitsu H,Minoshima S,Ohnishi H,Yamamoto T,Hikoya A,Tachibana N,Fukao T,Yamamoto T,Hotta Y

    更新日期:2020-04-01 00:00:00

  • Stickler's syndrome associated with congenital glaucoma.

    abstract::A case report of Stickler's syndrome associated with congenital glaucoma is presented. Stickler's syndrome is an autosomal dominant disorder characterised by progressive arthropathy, midfacial flattening, Pierre Robin anomaly or cleft palate, sensorineural hearing loss, progressive myopia, vitreoretinal degeneration, ...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.1076/opge.19.1.55.2177

    authors: Ziakas NG,Ramsay AS,Lynch SA,Clarke MP

    更新日期:1998-03-01 00:00:00

  • Photoaversion in Leber's congenital amaurosis.

    abstract::Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been widely recognized as a clinical feature of Leber's congenital amaurosis. We present two patients who were diagn...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章

    doi:10.3109/13816819509057851

    authors: Traboulsi EI,Maumenee IH

    更新日期:1995-03-01 00:00:00

  • Rescue of sight by gene therapy - closer than it may appear.

    abstract::This review will cover the state of the field in retinal degeneration and gene therapy with a focus on the great strides that have been made in retina gene therapy. Topics ranging from the development of animal models to clinical trials (for the treatment of Leber congenital amaurosis, age-related macular degeneration...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章,评审

    doi:10.1080/13816810701503707

    authors: Rex TS

    更新日期:2007-09-01 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

  • 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

  • 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