2,746 results match your criteria optic coloboma

Treacher Collins Syndrome: A Case Report.

Mymensingh Med J 2021 Apr;30(2):555-558

Dr Aziza Jahan, Resident, MD Paediatrics, Mymensingh Medical College (MMC), Mymensingh, Bangladesh; E-mail:

Treacher collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant inherited disorder with variable expressivity. It affects mainly craniofacial structure that derives from 1st and 2nd branchial arches approximately between the 20th day and 12th week of intrauterine life. This syndrome has different clinical types. Read More

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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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Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.

BMC Ophthalmol 2021 Mar 29;21(1):154. Epub 2021 Mar 29.

Department of Ophthalmology, Medical University of Bialystok, Jana Kilinskiego 1 STR, 15-089, Białystok, Poland.

Background: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant eye disorder that can also affect other organs of the human body. The condition is primarily characterized by the anterior segmental abnormalities of the eye. Here, we present an observational case series of a three-generation family with ARS and unexpected foveal anomaly. Read More

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Ocular coloboma-a comprehensive review for the clinician.

Eye (Lond) 2021 Mar 21. Epub 2021 Mar 21.

National University Hospital, Singapore, Singapore.

Typical ocular coloboma is caused by defective closure of the embryonal fissure. The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. Ocular colobomata are more often associated with systemic abnormalities when caused by chromosomal abnormalities. Read More

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Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.

Ophthalmic Genet 2021 Mar 15:1-6. Epub 2021 Mar 15.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.

: To describe a family with presumed gonadosomatic mosaicism diagnosed upon ophthalmic examination of the proband's mother.: The family underwent comprehensive ophthalmic and physical examination. Variant detection was performed using trio exome analysis on peripheral leukocyte DNA from blood and saliva samples. Read More

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Monitoring healing of accidental laser burns of the macula using optical coherence tomography.

Clin Exp Optom 2021 Mar 1:1-4. Epub 2021 Mar 1.

Department of Vitreoretina, Narayana Nethralaya Eye Institute, Bangalore, India.

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Confirming and expanding the phenotypes of variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.

Mol Vis 2021 20;27:50-60. Epub 2021 Jan 20.

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

Purpose: Two frameshift and two indel variants in have been reported to cause coloboma in two families with incomplete penetrance and in two isolated cases in previous studies, respectively. This study aims to confirm this association and expand related specific phenotypes based on the genotype-phenotype analysis of variants.

Methods: Variants in were collected from our in-house exome sequencing data of 5,845 probands with different eye conditions. Read More

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January 2021

variant associated with bilateral kidney agenesis and broad intrafamilial disease variability.

Clin Kidney J 2021 Feb 13;14(2):704-706. Epub 2020 May 13.

Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark.

Pathogenic variants in have previously been associated with renal coloboma syndrome. Here we present a novel variant c.68T>C associated with bilateral kidney agenesis, minimal change nephropathy, ureteropelvic junction obstruction, duplex kidney with hydronephrosis of upper pole system and bilateral kidney hypoplasia within the same family. Read More

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February 2021

Neuroimaging in Children with Ophthalmological Complaints: A Review.

J Neuroimaging 2021 Feb 22. Epub 2021 Feb 22.

Department of Radiology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

Pediatric patients are commonly referred to imaging following abnormal ophthalmological examinations. Common indications include papilledema, altered vision, strabismus, nystagmus, anisocoria, proptosis, coloboma, and leukocoria. Magnetic resonance imaging (MRI) of the brain and orbits (with or without contrast material administration) is typically the imaging modality of choice. Read More

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February 2021

An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome.

Ophthalmic Genet 2021 Feb 18:1-3. Epub 2021 Feb 18.

Department of Pediatrics, Zeynep Kamil Maternity and Children's Disease Training and Research Hospital , Istanbul, Turkey.

: Wolf-Hirschhorn syndrome (WHS) is a rare inherited disease caused by the deletion in short arm of 4 chromosome. Various ocular manifestations in WHS have been described previously. We present an extraordinary clinical case of WHS associated with optic nerve head malformation and optic nerve sheath enlargement in the same eye. Read More

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February 2021

Outcomes of the Perplexed Surgical Management of Retinal Detachment in Eyes with Coloboma.

Korean J Ophthalmol 2021 02 2;35(1):80-88. Epub 2021 Feb 2.

Department of Vitreo-Retina, Bharatpur Eye Hospital, Bharatpur, Nepal.

Purpose: To determine the anatomical and visual outcomes of retinal detachment in eyes with chorioretinal coloboma managed by pars plana vitrectomy, endolaser photocoagulation and silicone oil (SO) tamponade.

Methods: Retrospective review of 29 eyes of 29 patients with retinal detachment associated with chorioretinal coloboma. All the cases were managed by vitrectomy procedures concluding with SO tamponade. Read More

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February 2021

Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia.

Eur J Ophthalmol 2021 Feb 14:1120672121995745. Epub 2021 Feb 14.

Eye Clinic, Public Health Department, University of Naples "Federico II", Naples, Campania, Italy.

Purpose: To evaluate the radial peripapillary vascular plexus of a cavitary congenital optic disc anomaly in a young patient with recessive autosomal metaphyseal acroscyphodysplasia using optical coherence tomography angiography (OCTA).

Methods: Observational case report.

Results: A 17-year-old man, with diagnosis of metaphyseal acroscyphodysplasia was referred to Eye Clinic for fundus examination and multimodal imaging for retinal epithelium hypertrophy in the right eye. Read More

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February 2021

Ubiquitous Chromatin Modifiers in Congenital Retinal Diseases: Implications for Disease Modeling and Regenerative Medicine.

Trends Mol Med 2021 Apr 8;27(4):365-378. Epub 2021 Feb 8.

Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA; Department of Pathology, University of Michigan, Ann Arbor, MI, USA; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA; Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI, USA; A. Alfred Taubman Medical Research Institute, University of Michigan, Ann Arbor, MI, USA; Section of Ophthalmology, Surgery Service, Veterans Administration Ann Arbor Healthsystem, Ann Arbor, MI, USA. Electronic address:

Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes encoding epigenetic proteins that modify chromatin. We review newly discovered functions of such chromatin modifiers in retinal development and discuss the role of epigenetics in MAC in humans and animal models. Further, we highlight how advances in epigenomic technologies provide foundational and regenerative medicine-related insights into blinding disorders. Read More

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Cecr2 mutant mice as a model for human cat eye syndrome.

Sci Rep 2021 Feb 4;11(1):3111. Epub 2021 Feb 4.

Department of Biological Sciences, University of Alberta, CW 405 Biological Sciences Building, 11455 Saskatchewan Drive, Edmonton, AB, T6G 2E9, Canada.

Cat eye syndrome (CES), a human genetic disorder caused by the inverted duplication of a region on chromosome 22, has been known since the late 1890s. Despite the significant impact this disorder has on affected individuals, models for CES have not been produced due to the difficulty of effectively duplicating the corresponding chromosome region in an animal model. However, the study of phenotypes associated with individual genes in this region such as CECR2 may shed light on the etiology of CES. Read More

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February 2021

Internal limiting membrane graft as a treatment for the retinal detachment secondary to an optic disc coloboma.

Eur J Ophthalmol 2021 Feb 2:1120672121992686. Epub 2021 Feb 2.

Centro de Oftalmologia Barraquer, Barcelona, Spain.

Purpose: To report our anatomical outcome with the internal limiting membrane (ILM) graft procedure in the management of rhegmatogenous retinal detachment (RRD) secondary to optic disc coloboma (ODC).

Methods: Description of a new surgical procedure in one eye of one patient who underwent pars plana vitrectomy (PPV) combined with ILM graft technique. Subsequent follow-up included optical coherence tomography (OCT) and visual acuity. Read More

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February 2021

: 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

A Systematic Review of the Clinical Manifestations and Diagnostic Methods for Macular Coloboma.

Curr Eye Res 2021 Jan 22:1-6. Epub 2021 Jan 22.

Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, University of Cologne , Cologne, Germany.

: To present the clinical features of and diagnostic methods used for macular coloboma (MC), and to analyze the factors associated with best-corrected visual acuity (BCVA) in patients with MC. : A systematic review using the MEDLINE (PubMed), EMBASE, LILACS, and Cochrane databases was performed. The factors associated with BCVA were analyzed. Read More

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January 2021

Intravitreal ranibizumab for the management of serous maculopathy secondary to optic disc coloboma-associated choroidal neovascularisation.

BMJ Case Rep 2021 Jan 20;14(1). Epub 2021 Jan 20.

Department of Ophthalmology, Gloucestershire Hospitals NHS Foundation Trust, Cheltenham, UK.

We report the case of a 19-year-old patient with symptomatic unilateral serous maculopathy associated with an optic nerve coloboma. Fluorescein angiography detected a focal late leak at the temporal edge of the coloboma which was later found to correspond with an area of choroidal neovascularisation on optical coherence tomography angiography. A course of intravitreal ranibizumab achieved good clinical and structural response. Read More

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January 2021

Mosaic cat eye syndrome in a child with unilateral iris coloboma.

Ophthalmic Genet 2021 Feb 1;42(1):84-87. Epub 2020 Dec 1.

Genetics Department, Asociación Para Evitar la Ceguera en México , Mexico City, Mexico.

Background: Cat eye syndrome (CES) is a rare chromosomal disorder with a known incidence of 1 per 50,000-150,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients. In addition, other ocular malformations and systemic defects can be present. Read More

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February 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

Multiple roles for Pax2 in the embryonic mouse eye.

Dev Biol 2021 Apr 9;472:18-29. Epub 2021 Jan 9.

Department of Cell Biology & Human Anatomy, University of California Davis, One Shields Avenue, Davis, CA, 95616, USA. Electronic address:

The vertebrate eye anlage grows out of the brain and folds into bilayered optic cups. The eye is patterned along multiple axes, precisely controlled by genetic programs, to delineate neural retina, pigment epithelium, and optic stalk tissues. Pax genes encode developmental regulators of key morphogenetic events, with Pax2 being essential for interpreting inductive signals, including in the eye. Read More

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[Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome].

Zhiyan Tao Fang Lu

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Jan;38(1):42-46

Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan 640000, China.

Objective: To explore the genetic basis for three children patients with CHARGE syndrome.

Methods: The three children and their parents were subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing.

Results: All patients had ocular anomalies including microphthalmia, microcornea, lens opacity, and coloboma of iris, optic nerve, retina and choroid. Read More

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January 2021

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.

Genes (Basel) 2021 Jan 6;12(1). Epub 2021 Jan 6.

Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.

Coloboma and microphthalmia (C/M) are related congenital eye malformations, which can cause significant visual impairment. Molecular diagnosis is challenging as the genes associated to date with C/M account for only a small percentage of cases. Overall, the genetic cause remains unknown in up to 80% of patients. Read More

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January 2021

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

Variable phenotype of Knobloch syndrome due to biallelic mutations in children.

Eur J Ophthalmol 2020 Nov 25:1120672120977343. Epub 2020 Nov 25.

Department of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, Hebrew University, Jerusalem, Israel.

Purpose: Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele. Our aim is to report the clinical and genetic findings of four Israeli children affected by Knobloch syndrome.

Methods: Retrospective study of four patients diagnosed with Knobloch syndrome, who underwent full ophthalmic examination, electroretinography, and neuroradiologic imaging. Read More

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November 2020

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

BMC Med Genomics 2020 11 20;13(1):175. Epub 2020 Nov 20.

Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.

Background: Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare well-defined autosomal dominant disorder characterized by long thumbs with three phalanges combined with pre- and postaxial polydactyly/syndactyly of limbs. By now, the syndrome has been reported in several large families from different ethnic backgrounds, with a high degree of inter- and intrafamilial variability. The genome locus responsible for TPT-PS has been mapped to the 7q36. Read More

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November 2020

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

Am J Med Genet A 2021 02 13;185(2):544-548. Epub 2020 Nov 13.

Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Saint Louis Children's Hospital, Saint Louis, Missouri, USA.

Chromodomain helicase DNA-binding protein 7 (CHD7) pathogenic variants are identified in more than 90% of infants and children with CHARGE (Coloboma of the iris, retina, and/or optic disk; congenital Heart defects, choanal Atresia, Retardation of growth and development, Genital hypoplasia, and characteristic outer and inner Ear anomalies and deafness) syndrome. Approximately, 10% of cases have no known genetic cause identified. We report a male child with clinical features of CHARGE syndrome and nondiagnostic genetic testing that included chromosomal microarray, CHD7 sequencing and deletion/duplication analysis, SEMA3E sequencing, and trio exome and whole-genome sequencing (WGS). Read More

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February 2021

Genetics Underlying the Interactions between Neural Crest Cells and Eye Development.

J Dev Biol 2020 Nov 10;8(4). Epub 2020 Nov 10.

Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E. Chicago Ave, Chicago, IL 60611, USA.

The neural crest is a unique, transient stem cell population that is critical for craniofacial and ocular development. Understanding the genetics underlying the steps of neural crest development is essential for gaining insight into the pathogenesis of congenital eye diseases. The neural crest cells play an under-appreciated key role in patterning the neural epithelial-derived optic cup. Read More

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November 2020