5,190 results match your criteria 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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J Zoo Wildl Med 2021 Apr;52(1):145-156

Wildlife Conservation Society, Zoological Health Program, Bronx Zoo, Bronx, NY 10460, USA,

The objective of this 20-yr retrospective study was to review and summarize causes of mortality in the North American (NA) snow leopard population to inform and enhance animal health and husbandry practices. Pathology reports were requested from all NA zoological institutions housing snow leopards that died between 01 January 1999 and 31 December 2019. Data were reviewed and cause of death (COD) and concurrent diseases were summarized and compared by age group, organ system, and disease process. 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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[A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)].

Laryngorhinootologie 2021 04 30;100(4):294-296. Epub 2021 Mar 30.

Klinik für Neonatologie und Pädiatrische Intensivmedizin, Bürgerhospital Frankfurt, Frankfurt am Main.

The rare clinical picture of nasal agenesis is to be presented on the basis of a female newborn. Intrauterine growth restriction with polyhydramnios and midface hypoplasia were noted during pregnancy. Primary cesarean section at 38 + 4 weeks' gestation was done. 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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Cataract surgery in eyes with associated coloboma: Predictors of outcome and safety of different surgical techniques.

Indian J Ophthalmol 2021 Apr;69(4):937-945

Sadguru Netra Chikitsalaya, Jankikund, Chitrakoot, Madhya Pradesh, India.

Purpose: The aim of this study was to report the outcome of cataract surgery with different surgical techniques in eyes with coexisting coloboma and to define factors of prognostic importance.

Methods: Retrospective case sheet review of patients presenting between January 2016 and December 2018, who underwent cataract surgery in eyes with coexisting coloboma.

Results: Of the 3,30,231 cases operated during the study period, 280 eyes of 276 patients had associated colobomatous malformation. 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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Prenatal Sonographic Features of CHARGE Syndrome.

Diagnostics (Basel) 2021 Feb 28;11(3). Epub 2021 Feb 28.

Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Read More

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February 2021

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.

Int J Mol Sci 2021 Feb 24;22(5). Epub 2021 Feb 24.

Fundació de Recerca de l'Institut de Microcirurgia Ocular, 08035 Barcelona, Spain.

This study aims to genetically characterize a two-year-old patient suffering from multiple systemic abnormalities, including skeletal, nervous and developmental involvements and Leber congenital amaurosis (LCA). Genetic screening by next-generation sequencing identified two heterozygous pathogenic variants in nicotinamide mononucleotide adenylyltransferase 1 () as the molecular cause of the disease: c.439+5G>T and c. Read More

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February 2021

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

Painful, reappearing eruption in a medically complex 4-year-old.

BMJ Case Rep 2021 Feb 18;14(2). Epub 2021 Feb 18.

Pediatric Hospitalist Medicine, Department of Pediatrics, Duke University, Durham, North Carolina, USA.

A 4-year-old boy with atypical, complete DiGeorge and CHARGE (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities) syndromes presented with frequent episodes of a painful, markedly erythematous eruption associated with swelling. Evaluation revealed non-specific findings on skin biopsy at the time of eruption and no pathogenic mutation in the SCN9A gene. The patient was diagnosed with secondary erythromelalgia based on clinical presentation. 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

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Invest Ophthalmol Vis Sci 2021 Feb;62(2):13

Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, Milan, Italy.

Purpose: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients.

Methods: A total of 591 probands (315 with family history and 276 sporadics) were analyzed. For 155 of them, we performed a family segregation study, considering a total of 382 relatives. 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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[Genetic and phenotypic analysis of a patient with phosphogylcerate dehydrogenase deficiency].

Zhiyan Tao Fang Lu

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Feb;38(2):170-173

Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan 640041, China. cn.

Objective: To explore the genetic basis for a child with ocular anomaly, microcephaly, growth retardation and intrauterine growth restriction.

Methods: The patient underwent ophthalmologic examinations including anterior segment photography, fundus color photography, and fundus fluorescein angiography. The patient and her parents were subjected to whole exome sequencing. Read More

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February 2021

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

Facial cleft? The first case of manitoba-oculo-tricho-anal syndrome with novel mutations in China: a case report.

BMC Pediatr 2021 Jan 21;21(1):46. Epub 2021 Jan 21.

Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, 639 Zhizaoju Road, 200011, Shanghai, China.

Background: Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contributed by misdiagnosis due to its similarities in ocular manifestations with facial cleft. In our study, we discovered the first case of MOTA syndrome in the population of China, with 2 novel FRAS1 related extracellular matrix 1 (FREM1) gene stop-gain mutations confirmed by whole exome sequencing. 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

[Three-dimensional measurement analysis of midface morphology in Treacher Collins syndromes].

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi 2021 Jan;35(1):86-94

Department of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, 100144, P.R.China.

Objective: To three-dimensionally calculate the craniofacial parameters of midface of patients with Treacher Collins syndrome (TCS) in China, in order to understand the changes in the spatial position relationship between the various anatomical structures of the midface.

Methods: CT imaging data of TCS patients and age- and gender-matched normal populations between January 2013 and July 2020 was retrospectively analyzed. A total of 33 cases met the selection criteria for inclusion in the study, including 14 cases in the TCS group and 19 cases in the control group. Read More

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January 2021

Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report.

J ASEAN Fed Endocr Soc 2020 20;35(1):122-124. Epub 2020 Apr 20.

Department of Paediatric Endocrinology, KK Women's and Children's Hospital, Singapore.

A 26-year-old female presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome. This was confirmed by a heterogenous pathogenic variant c. Read More

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