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Gene, ISSN 0378-1119, 09/2019, Volume 713, pp. 143973 - 143973
.... Here we reported the first identification of compound heterozygous mutations (c.G338A; p.R113Q and c.C1619T; p.A540V) in the SMO gene in a patient with both anterior segment dysgenesis... 
ASD | Morning glory syndrome | Ocular dysgenesis | SMO | Exome sequencing | Index Medicus
Journal Article
Klinische Monatsblätter für Augenheilkunde, ISSN 0023-2165, 2019, Volume 236, Issue 3, pp. 269 - 285
.... The so-called neural crest cells contribute significantly to the development of eye structures, especially of the anterior segment... 
anterior segment dysgenesis | ocular development | PAX6 | microphthalmia | aniridia | MAC | Life Sciences & Biomedicine | Ophthalmology | Science & Technology
Journal Article
PloS one, ISSN 1932-6203, 10/2011, Volume 6, Issue 10, pp. e25489 - e25489
Journal Article
Genetics in medicine, ISSN 1098-3600, 10/2020, Volume 22, Issue 10, pp. 1623 - 1632
Purpose Ocular anterior segment disorders (ASDs) are clinically and genetically heterogeneous, and genetic diagnosis often remains elusive... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus | eye | genomic medicine | ophthalmology | exome and genome sequencing | ocular anterior segment dysgenesis
Journal Article
Indian journal of ophthalmology, ISSN 0301-4738, 2014, Volume 62, Issue 3, pp. 367 - 370
Pellucid marginal degeneration (PMD) is an uncommon cause of inferior peripheral corneal thinning disorder, characterized by irregular astigmatism. We analyzed... 
pellucid marginal degeneration | Collagen cross-linking | Pentacam HR | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Corneal Dystrophies, Hereditary - drug therapy | Photosensitizing Agents - therapeutic use | Cross-Linking Reagents - therapeutic use | Humans | Middle Aged | Collagen - therapeutic use | Corneal Stroma - pathology | Male | Corneal Dystrophies, Hereditary - diagnosis | Visual Acuity | Photochemotherapy | Corneal Topography | Corneal diseases | Care and treatment | Cornea | Transplantation | Diagnosis | Methods | Glaucoma | Postoperative period | Index Medicus | Brief Communications | necrobiosis lipoidica | Keratitis | Optical coherence tomography | orbital neonatal abscess | ischemic optic neuropathy | Clinical profile | total cholesterol | orbital infection | macular edema | orbit | sutureless manual small-incision cataract surgery | toxin-induced encephalopathy | Actinic granuloma | worm | Toxic Optic Neuropathy Secondary to Consumption of Neem Oil | conjunctiva | thyroid ophthalmopathy | granuloma annulare | Polymerase chain reaction | Central retinal vein occlusion | limbal dermoid | macular thickness | posterior chamber intraocular lens fracture | Atypical | high density lipoprotein | voriconazole | gender | Nager syndrome | retinal vein occlusion | pediatric cataract | humphrey visual field | visual outcome | intracameral mydriatic solution | Capsular block syndrome | cataract | Indian population | soluble intracellular adhesion molecule-1 | Haptic fracture | Rhodotorula sp | conjunctivitis | alopecia and photophobia syndrome | neonatal abscess | intraocular dirofilaria | Contrast sensitivity | intraocular lens | Aspergillosis | fixation | surgery | optic neuritis treatment trial | gram negative diplococcus | glaucoma | Diabetic macular edema | re-surgery | lipid profiles | spontaneous fracture | Internal limiting membrane | Bacterial conjunctivitis | intravitrealtriamcinolone acetonide | Disc edema | putamen | Ichthyosis follicularis | posterior capsular opacification | normative | retinal sensitivity | retinal detachment | optic disc pit | retinoschisis | meibomian gland dysfunction | subconjunctival incision | body mass index | Absent thumb | netilmicin | optic neuritis | Neisseria sicca | Capsular tension ring | Barriers to follow-up | Dirofilaria | myopia | Limbus incision | triglyceride | intraocular pressure | superior oblique palsy | monocyte chemoattractant protein-1 | intravitrealbevacizumab | wound construction | vitrectomy | multifocal visual evoked potential | Ocular torticollis | neem oil | diplopia | cholesterol granuloma | normative data | visual impairment | macular hole | retinal nerve fiber layer | Age | microperimeter | optic neuropathy | thyroid exophthalmos | ocular invovement | blepharophimosis ptosis epicanthus inversus syndrome | anterior segment dysgenesis | Ethnicity | craniofacial defects | Axenfeld-Rieger Syndrome | Decompression of the orbit | vascular endothelial growth factor | Eyelid retraction | Indian | endophthalmitis | Homocysteine | Compressive optic neuropathy | phacoemulsification | no preoperative mydriatic
Journal Article
Indian Journal of Ophthalmology, ISSN 0301-4738, 9/2014, Volume 62, Issue 3, pp. 358 - 360
.... We describe a case of BPES with Axenfeld-Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma... 
anterior segment dysgenesis | Axenfeld-Rieger Syndrome | glaucoma | blepharophimosis ptosis epicanthus inversus syndrome | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Young Adult | Diagnosis, Differential | Eye Abnormalities - diagnosis | Humans | Blepharophimosis - diagnosis | Abnormalities, Multiple | Urogenital Abnormalities | Male | Anterior Eye Segment - abnormalities | Skin Abnormalities - diagnosis | Blepharoptosis | Rieger syndrome | Diagnosis | Glaucoma | Mutation | Chromosomes | Patients | Genes | Index Medicus | Brief Communications | Keratitis | Optical coherence tomography | orbital neonatal abscess | ischemic optic neuropathy | Clinical profile | total cholesterol | orbital infection | macular edema | orbit | sutureless manual small-incision cataract surgery | toxin-induced encephalopathy | worm | Toxic Optic Neuropathy Secondary to Consumption of Neem Oil | thyroid ophthalmopathy | Polymerase chain reaction | Central retinal vein occlusion | limbal dermoid | macular thickness | posterior chamber intraocular lens fracture | Atypical | high density lipoprotein | voriconazole | gender | Nager syndrome | retinal vein occlusion | pediatric cataract | humphrey visual field | visual outcome | intracameral mydriatic solution | Capsular block syndrome | cataract | Indian population | soluble intracellular adhesion molecule-1 | Haptic fracture | Rhodotorula sp | conjunctivitis | neonatal abscess | intraocular dirofilaria | Contrast sensitivity | intraocular lens | Aspergillosis | fixation | surgery | optic neuritis treatment trial | gram negative diplococcus | Diabetic macular edema | lipid profiles | spontaneous fracture | Bacterial conjunctivitis | intravitrealtriamcinolone acetonide | Disc edema | putamen | posterior capsular opacification | normative | retinal sensitivity | retinal detachment | optic disc pit | retinoschisis | subconjunctival incision | body mass index | Absent thumb | netilmicin | optic neuritis | Neisseria sicca | Capsular tension ring | Barriers to follow-up | Dirofilaria | myopia | Limbus incision | triglyceride | intraocular pressure | superior oblique palsy | monocyte chemoattractant protein-1 | intravitrealbevacizumab | wound construction | vitrectomy | multifocal visual evoked potential | Ocular torticollis | neem oil | diplopia | cholesterol granuloma | normative data | visual impairment | retinal nerve fiber layer | Age | microperimeter | optic neuropathy | thyroid exophthalmos | Ethnicity | craniofacial defects | Decompression of the orbit | vascular endothelial growth factor | Eyelid retraction | Indian | endophthalmitis | Homocysteine | Compressive optic neuropathy | phacoemulsification | no preoperative mydriatic
Journal Article
Journal Article
Indian Journal of Ophthalmology, ISSN 0301-4738, 9/2014, Volume 62, Issue 3, pp. 363 - 365
A 65-year-old lady presented with decreased vision in left eye since seven months. Vision was 6/9 in right eye and 6/36 in left. Examination revealed... 
re-surgery | macular hole | Internal limiting membrane | vitrectomy | optical coherence tomography | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Retinal Perforations - diagnosis | Phacoemulsification - adverse effects | Tomography, Optical Coherence | Humans | Retinal Perforations - therapy | Female | Retinal Perforations - etiology | Aged | Fluorocarbons | Visual Acuity | Insufflation | Postoperative Complications | Vision disorders | Care and treatment | Vitrectomy | Phacoemulsification | Diagnosis | Optical tomography | Methods | Macular degeneration | Surgery | Index Medicus | Brief Communications | necrobiosis lipoidica | Keratitis | Optical coherence tomography | orbital neonatal abscess | ischemic optic neuropathy | Clinical profile | total cholesterol | orbital infection | macular edema | orbit | sutureless manual small-incision cataract surgery | toxin-induced encephalopathy | Actinic granuloma | worm | Toxic Optic Neuropathy Secondary to Consumption of Neem Oil | conjunctiva | thyroid ophthalmopathy | granuloma annulare | Polymerase chain reaction | Central retinal vein occlusion | limbal dermoid | macular thickness | posterior chamber intraocular lens fracture | Atypical | high density lipoprotein | voriconazole | gender | Nager syndrome | retinal vein occlusion | pediatric cataract | humphrey visual field | visual outcome | intracameral mydriatic solution | Capsular block syndrome | cataract | Indian population | soluble intracellular adhesion molecule-1 | Haptic fracture | Rhodotorula sp | conjunctivitis | neonatal abscess | intraocular dirofilaria | Contrast sensitivity | intraocular lens | Aspergillosis | fixation | surgery | optic neuritis treatment trial | gram negative diplococcus | glaucoma | Diabetic macular edema | lipid profiles | spontaneous fracture | Bacterial conjunctivitis | intravitrealtriamcinolone acetonide | Disc edema | putamen | posterior capsular opacification | normative | retinal sensitivity | retinal detachment | optic disc pit | retinoschisis | subconjunctival incision | body mass index | Absent thumb | netilmicin | optic neuritis | Neisseria sicca | Capsular tension ring | Barriers to follow-up | Dirofilaria | myopia | Limbus incision | triglyceride | intraocular pressure | superior oblique palsy | monocyte chemoattractant protein-1 | intravitrealbevacizumab | wound construction | multifocal visual evoked potential | Ocular torticollis | neem oil | diplopia | cholesterol granuloma | normative data | visual impairment | retinal nerve fiber layer | Age | microperimeter | optic neuropathy | thyroid exophthalmos | blepharophimosis ptosis epicanthus inversus syndrome | anterior segment dysgenesis | Ethnicity | craniofacial defects | Axenfeld-Rieger Syndrome | Decompression of the orbit | vascular endothelial growth factor | Eyelid retraction | Indian | endophthalmitis | Homocysteine | Compressive optic neuropathy | phacoemulsification | no preoperative mydriatic
Journal Article
Journal of neuroscience research, ISSN 0360-4012, 01/2019, Volume 97, Issue 1, pp. 7 - 15
...). The POM is comprised of neural crest‐derived mesenchymal progenitor cells that give rise to numerous important ocular structures including those tissues that form the optic cup and anterior segment of the eye... 
anterior segment dysgenesis | animal models | development | genetics | ocular disease | neural crest | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Eye diseases | Analysis | Leukocyte migration | AP-2 protein | Mesenchyme | Genes | Retina | Tissues | Inductors | Neural crest | Progenitor cells | Cell adhesion & migration | Eye | Pax6 protein | Receptors | Specifications | Cells (biology) | Neural stem cells | Mutation | Cell migration | Index Medicus
Journal Article