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Abrogation of Stem Loop Binding Protein (Slbp) function leads to a failure of cells to transition from proliferation to differentiation, retinal coloboma and midline axon guidance deficits. Through forward genetic screening for mutations affecting visual system development, we identified prominent coloboma and cell-autonomous retinal neuron differentiation, lamination and retinal axon projection defects in eisspalte (ele) mutant zebrafish. Additional axonal deficits were present, most notably
Neglected Congenital Glaucoma with Lens Coloboma. To report a case of lens coloboma in a case of neglected primary congenital glaucoma.A 5-year-old boy was brought by the parents with complaints of diminution of vision in both eyes noticed for 8 months. There was a history of enlargement of eyes since 1 year of age.Clinical examination revealed bilateral large eyes with limbal stretching and Haab's striae and lens coloboma in the right eye. Dilated examination revealed scalloped border (...) of the crystalline lens superotemporally with broken zonules and lens coloboma in inferotemporal quadrant with absent zonules. There was advanced optic nerve head cupping in both eyes. This lens coloboma is likely an acquired condition due to extensive stretching of the lens and zonules secondary to globe enlargement in neglected buphthalmos.A neglected case of congenital glaucoma can lead to lens subluxation along with lens coloboma.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. WD40 repeat-containing proteins form a large family of proteins present in all eukaryotes. Here, we identified five pediatric probands with de novo variants in WDR37, which encodes a member of the WD40 repeat protein family. Two probands shared one variant and the others have variants in nearby amino acids outside the WD40 repeats. The probands (...) exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual disability, and cerebellar hypoplasia. The WDR37 protein is highly conserved in vertebrate and invertebrate model organisms and is currently not associated with a human disease. We generated a null allele of the single Drosophila ortholog to gain functional insights and replaced the coding region of the fly gene CG12333/wdr37 with GAL4. These flies are homozygous
Intercalary membrane as the inner wall overlying optic and chorio-retinal colobomas. Deep penetration Swept Source-OCT study Five eyes of four patients were studied to analyze the structure of the inner wall of optic and chorioretinal colobomas using swept-source optical coherence tomography (SS-OCT). The colobomatous cavities and their relationship with adjacent structures were examined. SS-OCT permitted the study of the colobomatous cavities in all cases. In four of those cases, a Y-shaped (...) intercalary membrane (ICM) was identified, with an origin in the retinal nerve fiber layer (RNFL), which covered the coloboma and in one case the coloboma was in contact with the vitreous cavity. Vitreous adhesion to the internal wall of the coloboma was found in three cases. No clinical or tomographic maculopathy was observed in any patient. High-resolution deep penetration SS-OCT allows in vivo study of optic and chorioretinal colobomas, identifying the RNFL as the main component of the ICM overlying
Modified sewing machine technique for iridodialysis repair, intraocular lens relocation, iris coloboma repair, Cionni ring fixation, and scleral-fixated intraocular lens The purpose of this study is to report the modification of sewing machine technique for iris dialysis repair (MSMT) and its usefulness in managing other conditions such as intraocular lens (IOL) subluxation, iris coloboma, Cionni ring for zonular dialysis, and for scleral-fixated IOL. MSMT was based on sewing machine principle (...) using a prethreaded 26G/30G needle with prolene suture for minimally invasive iris dialysis repair in a closed chamber manner. So far, eight patients (trauma - 3, surgical complication - 5) underwent this procedure. This technique is further modified to extend its use for IOL relocation - 2, iris coloboma repair - 3, and Cionni ring fixation for zonular dialysis - 2, SFIOL - 5 patients. All 20 patients had good visual recovery and cosmetic outcome with minimal morbidity. To conclude, MSMT offers
Commentary: Modified sewing machine technique: An innovative method for the management of iridodialysis, iris coloboma, and scleral fixation of intraocular lenses 30038168 2018 07 25 2018 12 02 1998-3689 66 8 2018 08 Indian journal of ophthalmology Indian J Ophthalmol Commentary: Modified sewing machine technique: An innovative method for the management of iridodialysis, iris coloboma, and scleral fixation of intraocular lenses. 1177-1178 10.4103/ijo.IJO_731_18 Pandey Suresh K SK SuVi Eye (...) Institute and Lasik Laser Center, Kota, Rajasthan, India. Sharma Vidushi V SuVi Eye Institute and Lasik Laser Center, Kota, Rajasthan, India. eng Journal Article Comment India Indian J Ophthalmol 0405376 0301-4738 IM Indian J Ophthalmol. 2018 Aug;66(8):1169-1176 30038167 Coloboma Humans Iris surgery Iris Diseases surgery Lens Implantation, Intraocular Lenses, Intraocular Sclera surgery Suture Techniques There are no conflicts of interest 2018 7 25 6 0 2018 7 25 6 0 2018 7 26 6 0 ppublish 30038168
Bilateral lens coloboma associated with Marfan syndrome 30038176 2018 07 27 2018 11 14 1998-3689 66 8 2018 08 Indian journal of ophthalmology Indian J Ophthalmol Bilateral lens coloboma associated with Marfan syndrome. 1192 10.4103/ijo.IJO_542_18 Gupta Gaurav G Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Goyal Parul P Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Malhotra Chintan C Advanced (...) Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Jain Arun Kumar AK Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. eng Case Reports Journal Article India Indian J Ophthalmol 0405376 0301-4738 IM Adolescent Anterior Eye Segment diagnostic imaging Coloboma diagnosis etiology Female Humans Lens, Crystalline diagnostic imaging Marfan Syndrome complications Slit Lamp There are no conflicts of interest 2018 7 25 6
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract Ocular coloboma is a developmental structural defect of the eye that often occurs as complex ocular anomalies. However, its genetic etiology remains largely unexplored. Here we report the identification of mutation (c.331C>T, p.R111C) in the IPO13 gene in a consanguineous family with ocular coloboma, microphthalmia, and cataract by a combination of whole-exome sequencing and homozygosity mapping. IPO13 encodes (...) an importin-B family protein and has been proven to be associated with the pathogenesis of coloboma and microphthalmia. We found that Ipo13 was expressed in the cornea, sclera, lens, and retina in mice. Additionally, the mRNA expression level of Ipo13 decreased significantly in the patient compared with its expression in a healthy individual. Morpholino-oligonucleotide-induced knockdown of ipo13 in zebrafish caused dose-dependent microphthalmia and coloboma, which is highly similar to the ocular
Surgical technique for management of isolated lenticular coloboma with high corneal astigmatism We describe a surgical technique for the correction of isolated congenital lenticular coloboma associated with high corneal astigmatism. Transscleral fixation of the capsular bag with a single eyelet Cionni capsular tension ring was followed by in-the-bag implantation of a toric intraocular lens (IOL). This lead to complete correction of the lenticular defect and perfect alignment of the toric lens (...) . In this case, the child attained an unaided distance visual acuity of 20/30 following amblyopia therapy and a well-aligned toric IOL at 12 months of follow-up. This technique can be used in cases with concomitant lenticular coloboma and significant corneal astigmatism.
Polypoidal Choroidal Vasculopathy Associated with Optic Disc Coloboma To report a case of polypoidal choroidal vasculopathy associated with optic disc coloboma.Case report.A 50-year-old woman presented with optic disc coloboma and retinochoroidal coloboma associated with subretinal hemorrhage and serous retinal detachment (SRD) in her left eye. Optical coherence tomography (OCT) confirmed SRD at the macula and showed a sharply elevated retinal epithelial detachment at the choroidal excavation (...) . OCT also revealed choroidal cavitation along the temporal side of the optic coloboma. Fluorescein angiography showed hyperfluorescent dye leakage and indocyanine green angiography revealed polypoidal lesions. We diagnosed polypoidal choroidal vasculopathy (PCV). PCV was located at the end of the choroidal cavitation. Her left eye was treated with an intraocular injection of the anti-vascular endothelial growth factor aflibercept (2 mg). Photodynamic therapy was performed using the standard
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family To report on a clinical and genetic investigation of a large, multigenerational South African family of mixed ancestry with autosomal dominant congenital cataracts, coloboma, and nystagmus.Ophthalmic examination was performed in 27 individuals from the same admixed South African family. DNA was sampled from either peripheral blood or buccal swabs in all (...) 27 individuals, and whole genome sequencing was performed in six individuals. Sanger sequencing was used to validate the probable mutation in the remaining family members.Twenty-seven family members with 19 affected individuals were included in the study. The predominant phenotype, with highly variable expression, was congenital cataract (14 individuals), posterior segment coloboma (17 individuals), and nystagmus (18 individuals). Other features present included high myopia, microcornea
Atypical superior iris and retinochoroidal coloboma 30249843 2018 10 23 2018 11 14 1998-3689 66 10 2018 Oct Indian journal of ophthalmology Indian J Ophthalmol Atypical superior iris and retinochoroidal coloboma. 1474-1475 10.4103/ijo.IJO_531_18 Jain Arvind M AM Department of Vitreo-Retina, Aravind Eye Hospital and Post-Graduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India. Ranjan Ratnesh R Department of Vitreo-Retina, Aravind Eye Hospital and Post-Graduate Institute (...) of Ophthalmology, Coimbatore, Tamil Nadu, India. Manayath George J GJ Department of Vitreo-Retina, Aravind Eye Hospital and Post-Graduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India. eng Case Reports Journal Article India Indian J Ophthalmol 0405376 0301-4738 EC 188.8.131.52 BMPR1A protein, human EC 184.108.40.206 Bone Morphogenetic Protein Receptors, Type I IM Adult Bone Morphogenetic Protein Receptors, Type I genetics Choroid abnormalities Coloboma diagnosis genetics Female Humans Iris abnormalities
Serous macular detachment due to nasally located optic disc pit-coloboma 30450323 2018 12 07 2222-3959 11 11 2018 International journal of ophthalmology Int J Ophthalmol Serous macular detachment due to nasally located optic disc pit-coloboma. 1879-1880 10.18240/ijo.2018.11.23 Theodoropoulou Sofia S Department of Ophthalmology, Attikon Hospital, University of Athens, Athens 12462, Greece. Bristol Eye Hospital, Bristol Medical School, University of Bristol, Bristol BS8 1TD, UK. Theodossiadis
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye The eye primordium arises as a lateral outgrowth of the forebrain, with a transient fissure on the inferior side of the optic cup providing an entry point for developing blood vessels. Incomplete closure of the inferior ocular fissure results in coloboma, a disease characterized by gaps in the inferior eye and recognized as a significant cause of pediatric blindness. Here, we identify eight (...) patients with defects in tissues of the superior eye, a congenital disorder that we term superior coloboma. The embryonic origin of superior coloboma could not be explained by conventional models of eye development, leading us to reanalyze morphogenesis of the dorsal eye. Our studies revealed the presence of the superior ocular sulcus (SOS), a transient division of the dorsal eye conserved across fish, chick, and mouse. Exome sequencing of superior coloboma patients identified rare variants in a Bone
Functional vision and quality of life in children with microphthalmia/anophthalmia/coloboma-a cross-sectional study. To determine the child's and parental perception of functional visual ability (FVA), vision-related and health-related quality of life (VR-QoL, HR-QoL) in children with microphthalmia/anophthalmia/coloboma (MAC).Between June 25, 2014, and June 3, 2015, we carried out a cross-sectional observational study at Moorfields Eye Hospital, London, UK, enrolling 45 children 2-16 years
Low-vision aids improve the visual performance of children with bilateral chorioretinal coloboma. To quantify the improvements in visual performance for both distance and near tasks attained by children with bilateral chorioretinal coloboma (CRC) with use of low-vision aids (LVAs).This was a hospital-based, cross-sectional, interventional case series of children with bilateral CRC. Demographic data were collected through a structured questionnaire and review of medical records. Distance
Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity. The aim of the study was to report prevalence, ocular outcome, neurological characteristics, cognitive and behavioural problems in children with optic disc coloboma (ODC).This was a population-based, cross-sectional study of 31 children between 2 and 18 years of age diagnosed with ODC. The children were part of a larger cohort of 184 children with congenital optic disc malformations. Clinical
SURGICAL OUTCOMES AND COMPLICATIONS OF RHEGMATOGENOUS RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA: The Results of the KKESH International Collaborative Retina Study Group. To study the outcomes of management of rhegmatogenous retinal detachment in eyes with chorioretinal colobomas.A retrospective review of 119 patients (119 eyes) with chorioretinal colobomas who underwent surgical repair for rhegmatogenous retinal detachment was performed. Data were collected on the site (...) vitrectomy (P = 0.028). Placement of an encircling band did not affect anatomical outcomes (P = 0.75). Most of the eyes (60%) with recurrent retinal detachment after primary vitrectomy had a primary break within the normal retina.The optimal option for managing retinal detachment in eyes with chorioretinal colobomas is pars plana vitrectomy with long-acting tamponade (silicone oil or octafluoropropane) and retinopexy to the edge of the coloboma and the primary breaks. Cryotherapy is associated with poor
OUTCOMES OF VITRECTOMY WITH SILICONE OIL TAMPONADE FOR MANAGEMENT OF RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA. To estimate the outcomes of retinal detachment in eyes with chorioretinal coloboma managed by pars plana vitrectomy and silicone oil tamponade.A retrospective chart review of 10 eyes (10 patients) who underwent pars plana vitrectomy for retinal detachment with chorioretinal coloboma.The average age at the time of the surgery was 29.8 ± 19.7 years. The mean follow-up (...) period was 28.8 ± 28.4 months. The mean silicone oil tamponade duration was 9.8 ± 3.5 weeks. Of 10 eyes, 4 (40%) had retinal breaks outside the coloboma, 4 (40%) had breaks inside the coloboma, 1 (10%) had breaks inside and outside the coloboma, and in 1 eye (10%); the causative retinal break was not localized. Preoperatively, the mean visual acuity was 20/2,500 (n = 9), and 1 (10%) was recorded as "Not CSM." At the final examination, the mean visual acuity for the patients with measurable visual