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Lingam Gopal G Shri Bhagwan Mahavir vitreoretinal services, Vision and Medical Research Foundations, Sankara Nethralaya, Chennai, Tamil Nadu, India; Department of Ophthalmology, National University Hospital, Singapore, - - 2013
Background: Choroidal coloboma, especially with optic disc involvement affects the blood vessel (BV) pattern in the fundus. Aim: The aim of this study was to report the observations on the pattern of retinal BVs in eyes with fundus coloboma. Design: Retrospective observational study. Materials and Methods: Twenty four eyes of ...
Relevancy Score: Relevancy Score: 1000
Babu N Suresh - - 2011
Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose which was confirmed to be a lipoma on ...
Relevancy Score: Relevancy Score: 973
Cho Dooyoung - - 2011
An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested ...
Relevancy Score: Relevancy Score: 955
Hernadez-Camarena Julio C - - 2012
A lens coloboma is not a true coloboma; it is just a zonular absence that causes a defect in the lens equator and hence a more spherical lens. It can be isolated or in association with iris, choroid or retinal colobomas. Typically the defect is present at the site of ...
Relevancy Score: Relevancy Score: 950
Li Juanjuan J Department of Ophthalmology, The Fourth Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650021, P.R. - - 2014
The aim of this study was to analyze the techniques for intraocular lens (IOL) implantation in patients with coloboma of the iris. A retrospective cohort study was used to analyze the degree of iris coloboma and the characteristics of the crystalline lens in 56 patients with iris coloboma. The patients ...
Relevancy Score: Relevancy Score: 950
Bhende Muna - - 2011
Choroidal neovascularization (CNV) is a rare complication associated with coloboma of the choroid. We describe three cases of coloboma choroid where there was loss of vision due to CNV development at the edge of the coloboma. One was managed by photodynamic therapy alone and two were managed by a combination ...
Relevancy Score: Relevancy Score: 946
Oh Joo Youn - - 2007
PURPOSE: To report the optical coherence tomography (OCT) findings in a patient with unilateral macular coloboma. METHODS: A 12-year-old male was presented with macular coloboma in the left eye. The optical coherence tomography was performed with fluorescein angiography (FA). RESULTS: The OCT revealed the crater-like depression in the macula, demonstrating ...
Relevancy Score: Relevancy Score: 945
Ahmed Nasreen Raees NR Department of Ophthalmology, Dr. R. P. Centre, All India Institute of Medical Sciences, New Delhi 110029, - - 2014
Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance ...
Relevancy Score: Relevancy Score: 912
Abe Kosuke K Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama, Osaka, Japan ; Nara Hospital, Kinki University Faculty of Medicine, Ikoma, Nara, - - 2014
Congenital macular coloboma is a rare ocular disease that consists of atrophic lesions in the macula with well-circumscribed borders. We report the findings of spectral domain optical coherence tomography (SD-OCT) at the fixation point in a case of bilateral macular coloboma. The subject is a 4-year-old boy. He visited our ...
Relevancy Score: Relevancy Score: 878
Kelberman Daniel D Ulverscroft Vision Research - - 2014
Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation in the SALL2 gene in members of a consanguineous ...
Relevancy Score: Relevancy Score: 874
Kumar Kishlay - - 2011
To screen the paired box gene 6 (PAX6) gene in irido-fundal coloboma. The entire coding region of PAX6 including intron-exon boundaries was amplified from cases (n=30) and controls (n=30). All sequences were analyzed against the ensemble sequence (ENSG00000007372) for PAX6. DNA sequence analysis of patients and controls revealed a total ...
Relevancy Score: Relevancy Score: 871
Sato Takeshi - - 2013
Renal coloboma syndrome is an autosomal dominant condition characterized by renal lesions and optic nerve abnormalities. We report an 11-yr-old Japanese girl with familial renal coloboma syndrome, who also had Graves' disease. Four affected family members had a previously reported heterozygous mutation (c.76dupG, p.Val26Glyfs*28) in the PAX2 gene. We hypothesized ...
Relevancy Score: Relevancy Score: 869
London Nikolas J S - - 2009
PURPOSE: Microphthalmia, anophthalmia, and coloboma are ocular malformations with a significant genetic component. Rx is a homeobox gene expressed early in the developing retina and is important in retinal cell fate specification as well as stem cell proliferation. We screened a group of 24 patients with microphthalmia, coloboma, and/or anophthalmia ...
Relevancy Score: Relevancy Score: 859
Damasceno Nadyr Antonia - - 2011
The authors relate an uncommon case of combined hamartoma of the retina and retinal pigment epithelium associated with optic coloboma.
Relevancy Score: Relevancy Score: 845
Zhang Xiaohui - - 2009
PURPOSE: To screen ten genes for mutations in 32 Chinese patients with microphthalmia and/or coloboma. METHODS: Genomic DNA was prepared from 32 unrelated patients with microphthalmia (nine probands) and uveal coloboma (23 probands). Cycle sequencing was used to detect sequence variations in ten genes, including BMP4, VSX2, CRYBA4, GDF6, OTX2, ...
Relevancy Score: Relevancy Score: 827
Kim Joon-Hyun - - 2006
PURPOSE: We describe our successful experience using a capsular tension ring (CTR) and iris repair during cataract surgery in a patient with bilateral coloboma. METHODS: A 67-year-old woman had no history of trauma, but had zonular deficiency and inferonasal iris defects in both eyes. An extracapsular cataract extraction and intraocular ...
Relevancy Score: Relevancy Score: 822
Seung Hyun Kyung - - 2009
We report a rare case of retinal detachment in colobomatous macrophthalmos with microcornea syndrome. A 25-year-old female who had suffered from poor vision in her left eye since early childhood and high myopia in her right eye (-11 D) visited our clinic because of a sudden deterioration of vision. Examination ...
Relevancy Score: Relevancy Score: 752
Pillai-Kastoori Lakshmi L Department of Biology, University of Kentucky, Lexington, Kentucky, United States of - - 2014
Ocular coloboma is a sight-threatening malformation caused by failure of the choroid fissure to close during morphogenesis of the eye, and is frequently associated with additional anomalies, including microphthalmia and cataracts. Although Hedgehog signaling is known to play a critical role in choroid fissure closure, genetic regulation of this pathway ...
Relevancy Score: Relevancy Score: 747
Sbordone Sandro - - 2013
The aim of this study is to describe the management of cataract and refractory glaucoma in a case of congenital aniridia (AN)-1. In an 18-year-old female patient affected by congenital AN, bilateral coloboma of the zonula and lens, cataract and glaucoma, pars plana vitrectomy, cataract extraction and subsequent transcorneal ciliary ...
Relevancy Score: Relevancy Score: 734
Babcock Holly E HE Unit on Pediatric, Developmental and Genetic Ophthalmology, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of - - 2014
Uveal coloboma is a potentially blinding congenital ocular malformation caused by failure of the optic fissure to close during development. Although mutations in numerous genes have been described, these account for a minority of cases, complicating molecular diagnosis and genetic counseling. Here we describe a key role of aldh7a1 as ...
Relevancy Score: Relevancy Score: 720
Bhatt Rupal - - 2008
Congenital anomalies of the lens include a wide range from lens coloboma to primary aphakia and doubling of lens. There have been few case reports of double lens; the etiology suggested is metaplastic changes in the surface ectoderm that leads to formation of two lens vesicles and hence resulting in ...
Relevancy Score: Relevancy Score: 694
Pirity Melinda K MK Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA. mpirity@gmail.com - - 2007
Rybp (Ring1 and YY1 binding protein) is a zinc finger protein which interacts with the members of the mammalian polycomb complexes. Previously we have shown that Rybp is critical for early embryogenesis and that haploinsufficiency of Rybp in a subset of embryos causes failure of neural tube closure. Here we ...
Relevancy Score: Relevancy Score: 681
Chen Shuyi - - 2012
Coloboma is a congenital disease that contributes significantly to childhood blindness. It results from the failure in closing the optic fissure, a transient opening on the ventral side of the developing eye. Although human and mouse genetic studies have identified a number of genes associated with coloboma, the detailed cellular ...
Relevancy Score: Relevancy Score: 670
Gopal L - - 1996
PURPOSE: To categorize and describe the type of optic disc involvement and blood vessel patterns seen in patients with fundus coloboma. METHODS: This is a prospective study involving 67 eyes of 40 patients with choroidal coloboma. The evaluation included documentation of fundus details using fundus drawings or photographs, or both. ...
Relevancy Score: Relevancy Score: 649
Blake Kim D - - 2006
CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. ...
Relevancy Score: Relevancy Score: 648
Nouby Gamal - - 2002
PURPOSE: To discuss the relation between congenital upper eyelid coloboma and cryptophthalmos and to present a new grading for both conditions. METHODS: Observational case series study. Twenty-six children (age range, one day after birth to 15 years old) were included in the study: 19 with upper eyelid coloboma, 4 with ...
Relevancy Score: Relevancy Score: 641
Pagon R A - - 1981
Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anophthalmos. Coloboma is etiologically heterogeneous. As an isolated defect, it is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs. Patients with multiple malformations and coloboma may have ...
Relevancy Score: Relevancy Score: 639
Halal F - - 1981
We report a five-year-old boy with bilateral ocular coloboma, hypertelorism, hypospadias, and mental retardation. The father has hypertelorism and a deceased sibling had unilateral iris coloboma. This observation my represent 1) the BBB syndrome with coincidentally segregating coloboma; 2) discovery of coloboma as a new but rare component manifestation of ...
Relevancy Score: Relevancy Score: 638
Cunliffe H E - - 1998
The PAX2 gene is mutated in patients with ocular colobomas, vesicoureteral reflux (VUR), and kidney anomalies (renal-coloboma syndrome, OMIM 120330). The three abnormalities which make up this syndrome also occur in isolation, but the causal genes are not known. PAX2 encodes a transcription factor of the paired box class of ...
Relevancy Score: Relevancy Score: 637
Agarwal T - - 2003
PURPOSE: To study the morphology of the Lens "Coloboma" using the technique of ultrasound biomicroscopy. METHODS: We used the Paradigm 40 Ultrasound biomicroscope to study the morphology of the lens "Coloboma". RESULTS: Ultrasound biomicroscopy of the lens "Coloboma" revealed a greatly increased sphericity of the lens and the deficiency of ...
Relevancy Score: Relevancy Score: 634
Grover Ashok Kumar - - 2009
PURPOSE: To review the clinical observations in the management of congenital eyelid coloboma. METHODS: Fifty-one cases of congenital eyelid colobomas including the functional and cosmetic rehabilitation of patients who were treated over a period of 18 years with an average follow-up of 4.7 years were retrospectively reviewed. RESULTS: Thirty-eight patients ...
Relevancy Score: Relevancy Score: 632
Ahmad Nadeem N From the *Vitreoretinal Department, Moorfields Eye Hospital, London; and the †Ophthalmology Department, Royal Hallamshire Hospital, Sheffield, United - - 2010
Choroidal colobomas represent failure of closure of the fetal fissure during embryogenesis. Eyes with colobomas can develop complex retinal detachments. We present a case of a patient presenting with a macular hole in her only useful eye with an extramacular choroidal coloboma. A 56-year-old woman was referred with a 3-month ...
Relevancy Score: Relevancy Score: 631
Ilsen Pauline F - - 2003
BACKGROUND: Anomalies of crystalline lens shape and position include: lenticonus, lentiglobus, microspherophakia, coloboma, and ectopia lentis. Lens coloboma probably results from a localized absence or maldevelopment of lens zonules. It may be a variant of nontraumatic (congenital) ectopia lentis, in which the zonular deficiency is more generalized. Coloboma of the ...
Relevancy Score: Relevancy Score: 631
Steahly L P - - 1990
Several presentation and associated clinical problems can be seen with retinochoroidal colobomas. We review five cases of retinochoroidal coloboma with no specific clinical problems and present five cases with clinical visual impairment. The five symptomatic cases include: one with extensive bilateral involvement; one with associated rhegmatogenous detachment and peripheral tears; ...
Relevancy Score: Relevancy Score: 631
Eida H - - 1998
A family with choroidal coloboma is reported. A 43-year-old Japanese woman with choroidal coloboma including the optic disk and extending to the inferior half of the fundus in both eyes had horizontal nystagmus, microcornea and mild cortical cataract in both eyes. Her 40-year-old younger sister had choroidal colobomas in both ...
Relevancy Score: Relevancy Score: 631
Li Juanjuan - - 2011
Purpose: Lens coloboma is a rare congenital disorder of crystalline lens characterized by notching of the equator of the lens. Coloboma can occur in isolation or with other ocular malformations. The authors reported 5 cases of lens coloboma associated with some ocular malformations. Methods: Case reports. The clinical features, imaging ...
Relevancy Score: Relevancy Score: 630
Mohamed Ashik A Prof. Brien Holden Eye Research Centre, L V Prasad Eye Institute, Hyderabad, - - 2014
To evaluate the lenticular changes associated with congenital iridolenticular choroidal coloboma. Retrospective, observational case series. • Setting: Tertiary eye care centre in South India. 145 eyes of 98 patients. Medical records of all patients with the diagnosis of congenital iridolenticular choroidal coloboma between January 2011 and December 2012 were reviewed ...
Relevancy Score: Relevancy Score: 629
Chang Lan - - 2006
PURPOSE OF REVIEW: To integrate knowledge on the embryologic and molecular basis of optic fissure closure with clinical observations in patients with uveal coloboma. RECENT FINDINGS: Closure of the optic fissure has been well characterized and many genetic alterations have been associated with coloboma; however, molecular mechanisms leading to coloboma ...
Relevancy Score: Relevancy Score: 626
Lu B X - - 1989
In a survey of 26,512 children under 12 years of age, 2 cases (0.075%) were found to have congenital intraocular coloboma. Among 193 cases of the disease from 169 families reported by 50 hospitals of 21 provinces and cities, the disease affected boys more than girls. Bilateral colobomas of the ...
Relevancy Score: Relevancy Score: 624
Collin J R - - 1986
Twenty-two patients with congenital upper lid colobomas were assessed. Strabismus occurred in 13 cases and was associated with bands of fibrous tissue or adhesions, high refractive errors and opacities in the ocular media. A traction test is strongly recommended early in all children with congenital upper lid colobomas. A lateral ...
Relevancy Score: Relevancy Score: 624
Bavbek T - - 1993
Coloboma of the lens is characterized by notching of the equator of the lens. The cause of the condition is faulty development of the zonule. The lens deprived of its normal pull in the defective region is thicker and more spherical as if there were no loss of its substance. ...
Relevancy Score: Relevancy Score: 624
Denis D - - 2012
INTRODUCTION: Congenital ocular colobomas are the result of a failure in closure of the embryonal fissure. We present a prospective study (2007-2011) in which we report brain MRI findings in children with ocular coloboma. PATIENTS AND METHODS: Thirty-five children (54 eyes) were included; 15 boys, 20 girls with a median ...
Relevancy Score: Relevancy Score: 621
Cionni Robert J - - 2006
We describe a surgical technique for managing congenital iris coloboma. After phacoemulsification with placement of an intraocular lens in the capsular bag, coloboma repair is begun by bisecting the iris sphincter on both sides of its attachment near the chamber angle. The iris leaflets central to the sphincterectomies are approximated ...
Relevancy Score: Relevancy Score: 621
Schuh J C - - 1989
Bilateral true colobomas with retrobulbar cysts located over the optic nerves are described in an 8-year-old Quarterhorse mare with a history of progressive blindness. Colobomas result from the failure of an embryonic fissure to close and retrobulbar cysts result from eversion of the neuroectoderm through the colobomas. It could not ...
Relevancy Score: Relevancy Score: 620
Amari F - - 1994
An unusual case of bilateral lens coloboma and Alport-like glomerulonephritis is reported. In a 12-year-old boy and in several family members; Alport-like glomerulonephritis was diagnosed without deafness and without ocular signs of Alport syndrome. A bilateral lens coloboma however was observed in the propositus. To our knowledge this is the ...
Relevancy Score: Relevancy Score: 620
Altun Ersan - - 2005
Coloboma is one of the congenital ocular malformations presenting important diagnostic and therapeutic problems, especially in infants. Coloboma can be associated with microphthalmia frequently and macrophtalmia rarely. However, the association of coloboma, macrophthalmia, and orbital cyst was not reported previously in the literature. A case of coloboma associated with macrophtalmia ...
Relevancy Score: Relevancy Score: 619
Tsuji Naho - - 2011
Ocular coloboma is sometimes accompanied by corectopia in humans and therefore ectopic pupil may indicate ocular coloboma in experimental animals. The RCS strain of rats has a low incidence of microphthalmia. We found that inferior ectopic pupil is associated exclusively with small-sized eyes in this strain. The objective of the ...
Relevancy Score: Relevancy Score: 619
Weng N - - 1998
OBJECTIVE: To approach the clinical features of retinal detachment with congenital choroidal coloboma and seek better surgical methods to improve the effect of treatment. METHODS: Vitreoretinal surgery was performed on eight patients of retinal detachment with choroidal coloboma. During surgery by using an operating microscope with high magnification and endoillumination, ...
Relevancy Score: Relevancy Score: 619
Demetrio R R Servicio de Oftalmología, Hospital Universitario Marqués de Valdecilla, Santander, España. Electronic address: - - 2014
We present a seventy-three year-old female diagnosed with lens coloboma when she was going to be operated on for cataracts. The incidence of congenital coloboma of the eye is estimated to be 0.5 per 10000 newborns in Spain, 1.4 in France, 2.6 in United States, and 7.5 in China. The ...
Relevancy Score: Relevancy Score: 618
Simmons J D - - 1983
Typical ocular colobomas and associated orbital cysts are relatively common malformations that result from a defect in the fusion of the fetal optic fissure. Three cases studied with computed tomography (CT) are reported, and the spectrum of ocular colobomas, their associated findings, and CT differential diagnosis are reviewed. This experience ...
Relevancy Score: Relevancy Score: 617
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