Relative anterior microphthalmos in oculodentodigital dysplasia

Relative anterior microphthalmos in oculodentodigital dysplasia

Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anteri...

Full description

Bibliographic Details
Main Authors:	Orsolya Orosz, Mariann Fodor, István Balogh, Gergely Losonczy
Format:	Article
Language:	English
Published:	Wolters Kluwer Medknow Publications 2018-01-01
Series:	Indian Journal of Ophthalmology
Subjects:	Microcornea mutation myopia oculodentodigital dysplasia
Online Access:	http://www.ijo.in/article.asp?issn=0301-4738;year=2018;volume=66;issue=2;spage=334;epage=336;aulast=Orosz

Similar Items

Oculodentodigital dysplasia
by: Dharmil C Doshi, et al.
Published: (2016-01-01)

Clinical manifestations of oculodentodigital dysplasia
by: Gurusamy Kayalvizhi, et al.
Published: (2014-01-01)

Two novel GJA1 variants in oculodentodigital dysplasia
by: Nikolai P. Pace, et al.
Published: (2019-09-01)

Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review
by: Kye Won Park, et al.
Published: (2017-09-01)

A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia
by: Carol A. Wittlieb-Weber, MD, et al.
Published: (2016-01-01)

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
by: Marijke eDe Bock, et al.
Published: (2013-09-01)

A Novel Homozygous Variant in GJA1 Causing a Hallermann-Streiff/Oculodentodigital Dysplasia Overlapping Phenotype: A Clinical Report
by: Alexandra Jimenez-Armijo, et al.
Published: (2021-06-01)

Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
by: Irene Sargiannidou, et al.
Published: (2021-01-01)

CHARGE Syndrome Associated with Angle Closure despite High Myopia: A Case Report with Structural Suggestion
by: Saki Dote, et al.
Published: (2020-01-01)

A Rare Case of the Lenz Syndrome
by: Sohil T, et al.
Published: (2013-02-01)

Astrocyte–Oligodendrocyte–Microglia Crosstalk in Astrocytopathies
by: Dieuwke Maria de Waard, et al.
Published: (2020-11-01)

Unilateral acute hydrops in a child with bilateral microcornea and iridofundal coloboma
by: Rinky Agarwal, et al.
Published: (2019-01-01)

Inherited partial aniridia, microcornea with high myopia and Bergmeister′s papilla: A new phenotypic expression
by: Naithani Prashant, et al.
Published: (2008-01-01)

Adaptação de lente de contato em microcórnea: relato de um caso
by: Wil Oliveira da Costa, et al.

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
by: Andrey V. Marakhonov, et al.
Published: (2020-08-01)

Connexin43 is Dispensable for Early Stage Human Mesenchymal Stem Cell Adipogenic Differentiation But is Protective against Cell Senescence
by: Qing Shao, et al.
Published: (2019-09-01)

Cataract Surgery with Foldable Single Piece IOLs in Congenital Cataract-Microcornea Syndrome
by: Niphon Chirapapaisan, et al.
Published: (2017-12-01)

Scleral tunnel phacoemulsification: Approach for eyes with severe microcornea
by: Sudarshan Khokhar, et al.
Published: (2016-01-01)

A first case report of hypohidrotic ectodermal dysplasia from Oman
by: Musallam Al‐Araimi, et al.
Published: (2020-04-01)

Scleral Fixated Intraocular Lens in Aphakic Patient with Bilateral Microcornea and Microphthalmia
by: Alwohaibi NN, et al.
Published: (2021-05-01)

Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis
by: Tomoki Taki, et al.
Published: (2019-10-01)

Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene
by: Nader Ebadi, et al.
Published: (2018-01-01)

Medical sequencing of de novo ectodermal dysplasia in identical twins and evaluation of the potential eligibility for recombinant EDA therapy
by: Adriana Modesto, et al.
Published: (2017-09-01)

Ocular manifestations and treatment of congenital cataracts associated with microcornea
by: Yi-Xuan Zhao, et al.
Published: (2014-04-01)

A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia
by: Vorasuk Shotelersuk, et al.
Published: (2006-01-01)

Persistent fetal vasculature with colobomatous cystic optic disc in a microphthalmic eye: A clinicopathological case report
by: Palak Chirania, et al.
Published: (2020-01-01)

An unusual association of Morning Glory Syndrome with chronic myeloid leukemia-Philadelphia chromosome
by: Rakesh Panyala, et al.
Published: (2020-01-01)

Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis
by: Sumit Singh, MD, et al.
Published: (2016-09-01)

Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report
by: Qiongyi Hu, et al.
Published: (2017-12-01)

Relevance of the Problem of Myopia in School-age Children with Signs of Undifferentiated Connective Tissue Dysplasia
by: V. V. Li, et al.
Published: (2018-07-01)

Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case
by: Xue-Yan Qin, et al.
Published: (2017-01-01)

Fibrocartilagenous dysplasia: A rare variant of fibrous dysplasia
by: Sajitha Kaliyath, et al.
Published: (2015-01-01)

RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia
by: Wei-De Lin, et al.
Published: (2011-01-01)

Camptomelic dysplasia: A case report
by: Koš Radmila, et al.
Published: (2007-01-01)

Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review
by: Ru Xue, et al.
Published: (2021-09-01)

Cleidocranial dysplasia: A family report
by: Chelvan H, et al.
Published: (2009-01-01)

Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
by: Bhamy Hariprasad Shenoy, et al.
Published: (2014-01-01)

Frontal bone fibrous dysplasia in a 6-months-old boy: A distinctive entity
by: Kleanthis Anastasiadis, et al.
Published: (2021-03-01)

Oculodentodigital Dysplasia (ODDD) Presenting as Bilateral Advanced Glaucoma-A Case Report
by: Abhishek Anand, et al.
Published: (2018-07-01)

Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3
by: Eliane Chouery, et al.
Published: (2017-07-01)