217 results match your criteria coloboma authors


Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.

Eur J Med Genet 2021 Mar 29:104210. Epub 2021 Mar 29.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. Electronic address:

Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features, developmental delay and multiple congenital anomalies. Ophthalmological involvement has been described in varying rates in several studies. We aimed to evaluate the prevalence and nature of ophthalmological findings in a cohort of KS patients in Israel. Read More

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: Mechanisms of Epithelial Fusion During Optic Fissure Closure.

Front Cell Dev Biol 2020 11;8:620774. Epub 2021 Jan 11.

The Division of Functional Genetics and Development, The Royal Dick School of Veterinary Sciences, The Roslin Institute, The University of Edinburgh, Scotland, United Kingdom.

A key embryonic process that occurs early in ocular development is optic fissure closure (OFC). This fusion process closes the ventral optic fissure and completes the circumferential continuity of the 3-dimensional eye. It is defined by the coming together and fusion of opposing neuroepithelia along the entire proximal-distal axis of the ventral optic cup, involving future neural retina, retinal pigment epithelium (RPE), optic nerve, ciliary body, and iris. Read More

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January 2021

Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases.

Case Rep Ophthalmol 2020 Sep-Dec;11(3):612-619. Epub 2020 Nov 10.

Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USA.

Optic disc coloboma (ODC) is a rare congenital anomaly of the optic nerve. Optical coherence tomography (OCT) helps to monitor the complications when there is associated retinoschisis, retinal detachment, or peripapillary neovascularization, while being minimally invasive. OCT angiography could help to better understand this entity from a vascular perspective. Read More

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November 2020

Sporadic Case of CHARGE Syndrome With Chromodomain-Helicase-DNA-Binding Protein 7 (CDH7) Gene Mutation.

Cureus 2020 Dec 26;12(12):e12291. Epub 2020 Dec 26.

Pediatrics, Dr. Abdul Rahman Al Mishari Hospital, Riyadh, SAU.

CHARGE syndrome with chromodomain-helicase-DNA-binding protein 7 (CDH7) gene mutation is a genetic disease with an autosomal dominant gene. This syndrome involves a combination of six congenital anomalies (heart anomalies, coloboma of the eye, retardation of the growth or development, atresia of the choana, ear anomalies, and genital anomalies). Here, we present a case of a 15-month-old male child who was born to a 23-year-old healthy mother with no history of any exposure to teratogenic materials or drugs. Read More

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December 2020

Transscleral filtration revealing a chorioretinal coloboma.

Am J Ophthalmol Case Rep 2021 Mar 19;21:101003. Epub 2020 Dec 19.

Université de Paris, Centre d'Ophtalmologie de l'Assistance Publique - Hôpitaux de Paris, Hôpital Cochin, 27 rue du faubourg Saint-Jacques, 75014, Paris, France.

Purpose: We report the case of a 19-year-old patient who presented with an ocular hypotony due to a transscleral filtration through an isolated congenital chorioretinal coloboma in his right eye.

Observations: The initial examination showed a decimal best corrected visual acuity (BCVA) decreased to 0.7 and a marked hypotony. Read More

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Mutation-Related Oligomeganephronia in a Young Adult Patient.

Case Rep Nephrol Dial 2020 Sep-Dec;10(3):163-173. Epub 2020 Nov 30.

Department of Pathology, Albert Szent-Györgyi Health Center, University of Szeged, Szeged, Hungary.

Oligomeganephronic hypoplasia, commonly referred to as oligomeganephronia (OMN), is a rare pediatric disorder characterized by small kidneys. Histologically a paucity of nephrons is observed which show compensatory enlargement. Hyperfiltration injury leads to end-stage kidney disease. Read More

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November 2020

A molecular and cellular analysis of human embryonic optic fissure closure related to the eye malformation coloboma.

Development 2020 12 28;147(24). Epub 2020 Dec 28.

UCL Great Ormond Street Institute of Child Health, and NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK

Ocular coloboma is a congenital eye malformation, resulting from a failure in optic fissure closure (OFC) and causing visual impairment. There has been little study of the epithelial fusion process underlying closure in the human embryo and coloboma aetiology remains poorly understood. We performed RNAseq of cell populations isolated using laser capture microdissection to identify novel human OFC signature genes and probe the expression profile of known coloboma genes, along with a comparative murine analysis. Read More

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December 2020

CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.

Proc Natl Acad Sci U S A 2020 11 30;117(46):28847-28858. Epub 2020 Oct 30.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294;

encodes an ATP-dependent chromatin remodeling factor. Mutation of this gene causes multiple developmental disorders, including CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth/development, Genital abnormalities, and Ear anomalies) syndrome, in which conotruncal anomalies are the most prevalent form of heart defects. How CHD7 regulates conotruncal development remains unclear. Read More

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November 2020

FLACS in Congenital Iris Coloboma: A Useful Technique.

Int Med Case Rep J 2020 25;13:371-378. Epub 2020 Aug 25.

Al Watany Eye Hospital (WEH), Cairo, Egypt.

This paper reports the technique and outcome of femtosecond laser-assisted cataract surgery (FLACS) in an iris coloboma patient (59-year-old male patient) with bilateral grade 3 cataractous lens and a shallow anterior chamber. Best-corrected visual acuity (BCVA) was 0 on logMAR with spherical equivalent (SE) 9 D in the right eye, and BCVA of 0.3 logMAR with a SE 8. Read More

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Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in and Hypogammaglobulinemia Phenotype.

Mol Syndromol 2020 Jul 17;11(3):157-161. Epub 2020 Apr 17.

Department of Pediatric Radiology, Dr. Sami Ulus Research and Training Hospital of Women's and Children's Health and Diseases, Ankara, Turkey.

Renpenning syndrome is an X-linked intellectual disability syndrome caused by mutations in the human polyglutamine binding protein 1 () gene characterized by intellectual disability (ID), microcephaly, and dysmorphic facial features. We report a Turkish child with a novel pathogenic variant in and a likely pathogenic variant in the gene presenting with growth restriction, microcephaly, ID, micropenis, bilateral iris coloboma, and hypogammaglobulinemia. Cytogenetic investigations, including a high-resolution-banded karyotype, were normal. Read More

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Prevalence, Pattern and Risk Factors of Retinal Diseases Among an Elderly Population in Nepal: The Bhaktapur Retina Study.

Clin Ophthalmol 2020 24;14:2109-2118. Epub 2020 Jul 24.

Department of Ophthalmology, Amsterdam University Medical Center, Vrije University Amsterdam, Amsterdam, the Netherlands.

Introduction: Retinal diseases are an emerging cause of visual impairment in the developing world. The aim of this study was to explore the prevalence, pattern, and risk factors of retinal diseases in Nepal.

Methods: This is a population-based, cross-sectional study conducted from 2013 to 2015. Read More

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Unilateral morning glory disc anomaly in a patient with prenatal Zika virus exposure.

Int J Retina Vitreous 2020 1;6:36. Epub 2020 Aug 1.

Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL 33136 USA.

Background: To report a case of morning glory disc anomaly (MGDA) in a pediatric patient with prenatal Zika virus (ZIKV) exposure.

Case Presentation: A 3-year-old male with prenatal exposure to ZIKV, confirmed by real-time polymerase chain reaction testing during the second trimester of pregnancy, was evaluated due to visual loss. Physical examination was remarkable for unilateral MGDA. Read More

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Intraocular Migration of Porous Polyethylene Malar Implant Used for Treacher Collins Eyelid Reconstruction.

Ophthalmic Plast Reconstr Surg 2021 Mar-Apr 01;37(2):e73-e75

Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon.

Lower eyelid colobomas associated with Treacher Collins syndrome can be challenging to repair because of associated orbital and midfacial dysostosis. Alloplastic implants such as porous polyethylene have been advocated as readily available malar implants to help improve eyelid retraction. The authors report the first case of porous polyethylene implant insidious migration into the orbit with subsequent scleral penetration. Read More

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Secondary intrachoroidal cavitation in a case of iridofundal coloboma.

Med Hypotheses 2020 Oct 9;143:110085. Epub 2020 Jul 9.

Advanced Eye Center, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Intrachoroidal cavitation is a morphological entity usually described in high myopic eyes. It is usually seen in peripapillary location, though macular location has also been reported. It has been associated with optic disc tilting and posterior staphyloma. Read More

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October 2020

Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis.

Neuropediatrics 2020 08 3;51(4):276-285. Epub 2020 Jul 3.

Department of Pediatric Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy.

Objective: This study was aimed to investigate the prenatal findings in Aicardi syndrome (AIC) by intrauterine magnetic resonance imaging (iuMRI) suggesting possible diagnostic criteria and differential diagnosis.

Methods: The iuMRI features of nine AIC confirmed cases were described and then compared with those of postnatal MRI. Furthermore, all iuMRI cases with both corpus callosum (CC) agenesis-dysgenesis and cortical malformation (AIC mimickers) were retrospectively reviewed and compared with iuMRI AIC cases, in order to identify possible neuroradiological predictors of AIC syndrome. Read More

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Mitf-family transcription factor function is required within cranial neural crest cells to promote choroid fissure closure.

Development 2020 07 13;147(21). Epub 2020 Jul 13.

Departments of Ophthalmology and Developmental Biology, Louis J. Fox Center for Vision Restoration, The University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA

A crucial step in eye development is the closure of the choroid fissure (CF), a transient structure in the ventral optic cup through which vasculature enters the eye and ganglion cell axons exit. Although many factors have been identified that function during CF closure, the molecular and cellular mechanisms mediating this process remain poorly understood. Failure of CF closure results in colobomas. Read More

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The Prevalence of Congenital Heart Diseases in Syndromic Children at King Khalid National Guard Hospital from 2005 to 2016.

Cureus 2020 Apr 29;12(4):e7891. Epub 2020 Apr 29.

Pediatric Cardiology, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU.

Background Congenital heart diseases (CHDs) are abnormalities that present in the heart since birth and are one of the leading causes of infant mortality in the world. CHDs are more common among children with dysmorphic syndromes. The current study aims to estimate the prevalence of many CHDs in different dysmorphic syndromes. Read More

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CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation.

Head Face Med 2020 May 8;16(1):10. Epub 2020 May 8.

Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, University of Stellenbosch, Stellenbosch, South Africa.

Background: CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. Read More

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Prevention methods for Treacher Collins syndrome: A systematic review.

Int J Pediatr Otorhinolaryngol 2020 Jul 21;134:110062. Epub 2020 Apr 21.

The Seventh Department of Plastic Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Objectives: Treacher Collins syndrome (TCS) is a severe congenital mandibulofacial dysostosis that occurs one in every 50,000 births. The main clinical treatment of this rare disorder is reconstruction surgery. However, the high invasion, low security and long period of surgical intervention make it essential to explore prevention methods to decrease morbidity. Read More

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Ocular Findings in Infants with Microcephaly Caused by Presumed Congenital Infection by Zika Virus in Sergipe.

J Ophthalmol 2020 24;2020:7092432. Epub 2020 Mar 24.

Department of Medicine, Federal University of Sergipe, Sergipe 49060-100, Brazil.

This study aims at identifying ocular findings in infants with microcephaly associated with presumed intrauterine infection by ZIKV. A cross-sectional study included 62 outpatient infants with congenital microcephaly, presumably secondary to maternal ZIKV infection. The included infants had head circumference below -2 standard deviations, with negative maternal serology for toxoplasmosis, rubella, cytomegalovirus, syphilis, and HIV. Read More

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Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.

J Ophthalmol 2020 19;2020:7054315. Epub 2020 Feb 19.

Department of Gastrointestinal Surgery, Xiangya Hospital, Central South University, Changsha, China.

Purpose: To screen out pathogenic genes in a Chinese family with congenital cataract and iris coloboma. . A three-generation family with congenital cataract and iris coloboma from a Han ethnicity was recruited. Read More

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February 2020

Dexamethasone Implant Migration through an Iris Coloboma.

Case Rep Ophthalmol 2020 Jan-Apr;11(1):73-78. Epub 2020 Feb 5.

Department of Ophthalmology, Tel Aviv Medical Center, Tel Aviv, Israel.

Ozurdex® 0.7 mg (dexamethasone 0.7 mg implant, Allergan, Dublin, Ireland), an intravitreal biodegradable implant, is indicated for cystoid macular edema due to various causes. Read More

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February 2020

CHARGE Syndrome Associated with Angle Closure despite High Myopia: A Case Report with Structural Suggestion.

Case Rep Ophthalmol 2020 Jan-Apr;11(1):28-36. Epub 2020 Jan 9.

Department of Ophthalmology and Visual Science, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan.

CHARGE syndrome is associated with multiple malformations, and the main ocular abnormality is coloboma. We describe an unusual case of a 15-year-old girl with CHARGE syndrome having high intraocular pressure and narrow angle closure despite refractive high myopia (-9.0 dpt) in her left eye. Read More

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January 2020

Microspherophakia in a 47, XYY Syndrome Patient: A Case Report.

Case Rep Ophthalmol 2020 Jan-Apr;11(1):1-7. Epub 2020 Jan 3.

Department of Microsurgery of the Anterior Segment, Fundación Hospital Nuestra Señora de la Luz IAP, Mexico City, Mexico.

47, XYY syndrome affects males with variable phenotypic expression. Around 80-99% of affected individuals present low-set ears, malar flattening, motor delay, and tall stature. Yet, some cases lack signs or symptoms or are barely noticeable. Read More

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January 2020

Anterior transposition of inferior oblique for inferior rectus muscle aplasia.

Taiwan J Ophthalmol 2019 Oct-Dec;9(4):284-287. Epub 2019 Dec 13.

Department of Cardiology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Congenital absence of extraocular muscle is rare. The most common extraocular muscle found to be congenitally absent is superior oblique followed by inferior rectus. Patients with absent inferior rectus muscle can present with abnormal head posture and incomitant hypertropia with limitation of ocular motility in the field of action of the inferior rectus with or without torticollis. Read More

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December 2019

Associated syndromes in patients with Pierre Robin Sequence.

Int J Pediatr Otorhinolaryngol 2020 Apr 30;131:109842. Epub 2019 Dec 30.

Pediatric ENT and Facial Plastic Surgery, Children's of Minnesota, University of Minnesota Department of Otolaryngology-Head and Neck Surgery, Minneapolis, MN, USA. Electronic address:

Objectives: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes. Read More

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Fraser syndrome without cryptophthalmos: Two cases.

Eur J Med Genet 2020 Apr 7;63(4):103839. Epub 2020 Jan 7.

CHU Lille, Clinique de Génétique, F-59000, Lille, France; Univ. Lille, RADEME, EA 7364, F-59000, Lille, France. Electronic address:

Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies. This condition is due to homozygous or compound heterozygous mutations in the FRAS/FREM complex genes: FRAS1, FREM2 and GRIP1. Here we report two atypical cases of Fraser syndrome due to mutations in the FRAS1 gene without cryptophthalmos. Read More

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[Cat-eye syndrome (a psychiatric aspect)].

Zh Nevrol Psikhiatr Im S S Korsakova 2019 ;119(11):60-64

Central Clinic Psychiatry Hospital of Moscow Region, Moscow, Russia.

Cat-eye syndrome is associated with abnormalities in chromosome 22. Based on the literature on genetic and clinical characteristics of the disease, three clinical cases observed by the authors at different times are analyzed. Mental retardation of different degree was observed in all cases and schizotypal personality disorder in one case. Read More

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February 2020

A new mutation in the PAX2 gene in a Papillorenal Syndrome patient.

Am J Ophthalmol Case Rep 2019 Dec 11;16:100563. Epub 2019 Oct 11.

Hospital Regional de Málaga-Hospital Civil, Plaza Del Hospital Civil s/n, Málaga, Málaga, Spain.

Purpose: To present a new mutation in a patient with Papillorenal Syndrome (PAPRS).

Observations: PAPRS is an autosomal dominant disease that involves ocular and renal abnormalities. We present a patient with PAPRS with a genetically diagnosed PAX2 and new pathogenic mutation. Read More

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December 2019

Lacrimal Drainage Anomalies in CHARGE Syndrome: Case Report and Review of Literature.

Ophthalmic Plast Reconstr Surg 2020 Jan/Feb;36(1):e17-e19

Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, India.

The common ocular manifestations of CHARGE syndrome include colobomatous defects in the eye, strabismus, nystagmus, and micropthalmia. Lacrimal drainage anomalies have been rarely reported and to the best of the authors' knowledge, only 5 such cases have been reported earlier. The present case describes CHARGE syndrome associated with bilateral complex congenital nasolacrimal duct obstruction with multiple prior attacks of acute dacryocystitis and left lower punctal agenesis, successfully managed with a right-sided dacryocystorhinostomy and awaiting a left dacryocystorhinostomy. Read More

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