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14 results on '"blepharophimosis ptosis epicanthus inversus syndrome"'

1. Collagen cross-linking in the treatment of pellucid marginal degeneration

Author

Ziad Hassan, Gabor Nemeth, Laszlo Modis, Eszter Szalai, and Andras Berta

Subjects
Clinical profile, Indian population, optic neuritis treatment trial, optic neuritis, Decompression of the orbit, diplopia, orbit, thyroid exophthalmos, thyroid ophthalmopathy, Limbus incision, subconjunctival incision, sutureless manual small-incision cataract surgery, wound construction, Central retinal vein occlusion, intravitrealbevacizumab, intravitrealtriamcinolone acetonide, macular edema, Contrast sensitivity, fixation, microperimeter, normative data, retinal sensitivity, Optical coherence tomography, optic disc pit, retinal detachment, retinoschisis, Homocysteine, retinal vein occlusion, visual impairment, Diabetic macular edema, monocyte chemoattractant protein-1, soluble intracellular adhesion molecule-1, vascular endothelial growth factor, Compressive optic neuropathy, humphrey visual field, ischemic optic neuropathy, multifocal visual evoked potential, Age, body mass index, gender, high density lipoprotein, intraocular pressure, lipid profiles, total cholesterol, triglyceride, Capsular tension ring, cataract, intraocular lens, myopia, phacoemulsification, posterior capsular opacification, Ethnicity, Indian, macular thickness, normative, retinal nerve fiber layer, Ocular torticollis, superior oblique palsy, surgery, Barriers to follow-up, pediatric cataract, visual outcome, Cataract, intracameral mydriatic solution, no preoperative mydriatic, Disc edema, neem oil, putamen, toxin-induced encephalopathy, Toxic Optic Neuropathy Secondary to Consumption of Neem Oil, Absent thumb, craniofacial defects, limbal dermoid, Nager syndrome, Keratitis, Rhodotorula sp, Polymerase chain reaction, Atypical, cholesterol granuloma, Capsular block syndrome, optic neuropathy, Haptic fracture, posterior chamber intraocular lens fracture, spontaneous fracture, Bacterial conjunctivitis, conjunctivitis, gram negative diplococcus, Neisseria sicca, netilmicin, Aspergillosis, endophthalmitis, vitrectomy, voriconazole, Eyelid retraction, orbital infection, orbital neonatal abscess, neonatal abscess, Dirofilaria, intraocular dirofilaria, worm, Axenfeld-Rieger Syndrome, anterior segment dysgenesis, blepharophimosis ptosis epicanthus inversus syndrome, glaucoma, Actinic granuloma, conjunctiva, granuloma annulare, necrobiosis lipoidica, Internal limiting membrane, macular hole, optical coherence tomography, re-surgery, Ichthyosis follicularis, alopecia and photophobia syndrome, meibomian gland dysfunction, ocular invovement, Collagen cross-linking, pellucid marginal degeneration, Pentacam HR, Ophthalmology, RE1-994
Abstract

Pellucid marginal degeneration (PMD) is an uncommon cause of inferior peripheral corneal thinning disorder, characterized by irregular astigmatism. We analyzed a case of bilateral PMD patient and treated one eye with corneal collagen cross-linking (CXL) therapy. Corneal topography was characteristic for PMD. Visual acuity, slitlamp examinations, tonometry, and corneal thickness were observed. Simulated keratometric and topographic index values were detected with corneal topography. Uncorrected, LogMAR visual acuity has improved from +0.8 to +0.55 during the 6 months and +0.3 during the 8 months follow-up after CXL. Pachymetry values and intraocular pressure showed no changes. Keratometric values and topografic indexes disclosed no progression of the disease. CXL may postpone or eliminate the need of corneal transplantation in cases with PMD.

Published
2014
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2. Repeat gas insufflation for successful closure of idiopathic macular hole following failed primary surgery

Author

Pukhraj Rishi, Sumanth Reddy, and Ekta Rishi

Subjects
Clinical profile, Indian population, optic neuritis treatment trial, optic neuritis, Decompression of the orbit, diplopia, orbit, thyroid exophthalmos, thyroid ophthalmopathy, Limbus incision, subconjunctival incision, sutureless manual small-incision cataract surgery, wound construction, Central retinal vein occlusion, intravitrealbevacizumab, intravitrealtriamcinolone acetonide, macular edema, Contrast sensitivity, fixation, microperimeter, normative data, retinal sensitivity, Optical coherence tomography, optic disc pit, retinal detachment, retinoschisis, Homocysteine, retinal vein occlusion, visual impairment, Diabetic macular edema, monocyte chemoattractant protein-1, soluble intracellular adhesion molecule-1, vascular endothelial growth factor, Compressive optic neuropathy, humphrey visual field, ischemic optic neuropathy, multifocal visual evoked potential, Age, body mass index, gender, high density lipoprotein, intraocular pressure, lipid profiles, total cholesterol, triglyceride, Capsular tension ring, cataract, intraocular lens, myopia, phacoemulsification, posterior capsular opacification, Ethnicity, Indian, macular thickness, normative, retinal nerve fiber layer, Ocular torticollis, superior oblique palsy, surgery, Barriers to follow-up, pediatric cataract, visual outcome, Cataract, intracameral mydriatic solution, no preoperative mydriatic, Disc edema, neem oil, putamen, toxin-induced encephalopathy, Toxic Optic Neuropathy Secondary to Consumption of Neem Oil, Absent thumb, craniofacial defects, limbal dermoid, Nager syndrome, Keratitis, Rhodotorula sp, Polymerase chain reaction, Atypical, cholesterol granuloma, Capsular block syndrome, optic neuropathy, Haptic fracture, posterior chamber intraocular lens fracture, spontaneous fracture, Bacterial conjunctivitis, conjunctivitis, gram negative diplococcus, Neisseria sicca, netilmicin, Aspergillosis, endophthalmitis, vitrectomy, voriconazole, Eyelid retraction, orbital infection, orbital neonatal abscess, neonatal abscess, Dirofilaria, intraocular dirofilaria, worm, Axenfeld-Rieger Syndrome, anterior segment dysgenesis, blepharophimosis ptosis epicanthus inversus syndrome, glaucoma, Actinic granuloma, conjunctiva, granuloma annulare, necrobiosis lipoidica, Internal limiting membrane, macular hole, optical coherence tomography, re-surgery, Ophthalmology, RE1-994
Abstract

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 idiopathic, full-thickness macular hole in left eye; confirmed by optical coherence tomography (OCT). Patient underwent phacoemulsification with intraocular lens (IOL) implantation, vitrectomy, internal limiting membrane (ILM) peeling and 14% C 3 F 8 gas injection. OCT repeated after six weeks revealed type II closure with cuff of subretinal fluid. Four weeks later, patient underwent fluid-gas exchange with 14% C 3 F 8 gas and postoperative positioning. OCT was repeated after two weeks, which showed complete closure of the macular hole. OCT can help in selection of eyes for re-surgery that stand a better chance for hole closure. Macular holes with cuff of subretinal fluid are probably more likely to close on re-surgery than those without. However, larger studies with longer follow-up are required to validate this finding.

Published
2014
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3. Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome

Author

Bhavin M Shah, Tanuj Dada, Anita Panda, Mukesh Tanwar, Shibal Bhartiya, and Rima Dada

Subjects
Clinical profile, Indian population, optic neuritis treatment trial, optic neuritis, Decompression of the orbit, diplopia, orbit, thyroid exophthalmos, thyroid ophthalmopathy, Limbus incision, subconjunctival incision, sutureless manual small-incision cataract surgery, wound construction, Central retinal vein occlusion, intravitrealbevacizumab, intravitrealtriamcinolone acetonide, macular edema, Contrast sensitivity, fixation, microperimeter, normative data, retinal sensitivity, Optical coherence tomography, optic disc pit, retinal detachment, retinoschisis, Homocysteine, retinal vein occlusion, visual impairment, Diabetic macular edema, monocyte chemoattractant protein-1, soluble intracellular adhesion molecule-1, vascular endothelial growth factor, Compressive optic neuropathy, humphrey visual field, ischemic optic neuropathy, multifocal visual evoked potential, Age, body mass index, gender, high density lipoprotein, intraocular pressure, lipid profiles, total cholesterol, triglyceride, Capsular tension ring, cataract, intraocular lens, myopia, phacoemulsification, posterior capsular opacification, Ethnicity, Indian, macular thickness, normative, retinal nerve fiber layer, Ocular torticollis, superior oblique palsy, surgery, Barriers to follow-up, pediatric cataract, visual outcome, Cataract, intracameral mydriatic solution, no preoperative mydriatic, Disc edema, neem oil, putamen, toxin-induced encephalopathy, Toxic Optic Neuropathy Secondary to Consumption of Neem Oil, Absent thumb, craniofacial defects, limbal dermoid, Nager syndrome, Keratitis, Rhodotorula sp, Polymerase chain reaction, Atypical, cholesterol granuloma, Capsular block syndrome, optic neuropathy, Haptic fracture, posterior chamber intraocular lens fracture, spontaneous fracture, Bacterial conjunctivitis, conjunctivitis, gram negative diplococcus, Neisseria sicca, netilmicin, Aspergillosis, endophthalmitis, vitrectomy, voriconazole, Eyelid retraction, orbital infection, orbital neonatal abscess, neonatal abscess, Dirofilaria, intraocular dirofilaria, worm, Axenfeld-Rieger Syndrome, anterior segment dysgenesis, blepharophimosis ptosis epicanthus inversus syndrome, glaucoma, Ophthalmology, RE1-994
Abstract

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. 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. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/forked transcription factors (FOX) involved in a variety of developmental processes.

Published
2014
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4. Annular elastolytic giant cell granuloma of conjunctiva: A case report

Author

Karabi Konar, Saurabh Sanyal, and Arindam Rakshit

Subjects
Clinical profile, Indian population, optic neuritis treatment trial, optic neuritis, Decompression of the orbit, diplopia, orbit, thyroid exophthalmos, thyroid ophthalmopathy, Limbus incision, subconjunctival incision, sutureless manual small-incision cataract surgery, wound construction, Central retinal vein occlusion, intravitrealbevacizumab, intravitrealtriamcinolone acetonide, macular edema, Contrast sensitivity, fixation, microperimeter, normative data, retinal sensitivity, Optical coherence tomography, optic disc pit, retinal detachment, retinoschisis, Homocysteine, retinal vein occlusion, visual impairment, Diabetic macular edema, monocyte chemoattractant protein-1, soluble intracellular adhesion molecule-1, vascular endothelial growth factor, Compressive optic neuropathy, humphrey visual field, ischemic optic neuropathy, multifocal visual evoked potential, Age, body mass index, gender, high density lipoprotein, intraocular pressure, lipid profiles, total cholesterol, triglyceride, Capsular tension ring, cataract, intraocular lens, myopia, phacoemulsification, posterior capsular opacification, Ethnicity, Indian, macular thickness, normative, retinal nerve fiber layer, Ocular torticollis, superior oblique palsy, surgery, Barriers to follow-up, pediatric cataract, visual outcome, Cataract, intracameral mydriatic solution, no preoperative mydriatic, Disc edema, neem oil, putamen, toxin-induced encephalopathy, Toxic Optic Neuropathy Secondary to Consumption of Neem Oil, Absent thumb, craniofacial defects, limbal dermoid, Nager syndrome, Keratitis, Rhodotorula sp, Polymerase chain reaction, Atypical, cholesterol granuloma, Capsular block syndrome, optic neuropathy, Haptic fracture, posterior chamber intraocular lens fracture, spontaneous fracture, Bacterial conjunctivitis, conjunctivitis, gram negative diplococcus, Neisseria sicca, netilmicin, Aspergillosis, endophthalmitis, vitrectomy, voriconazole, Eyelid retraction, orbital infection, orbital neonatal abscess, neonatal abscess, Dirofilaria, intraocular dirofilaria, worm, Axenfeld-Rieger Syndrome, anterior segment dysgenesis, blepharophimosis ptosis epicanthus inversus syndrome, glaucoma, Actinic granuloma, conjunctiva, granuloma annulare, necrobiosis lipoidica, Ophthalmology, RE1-994
Abstract

Annular elastolytic giant cell granuloma is a condition characterized histologically by damaged elastic fibers associated with preponderance of giant cells along with absence of necrobiosis, lipid, mucin, and pallisading granuloma. It usually occurs on sun-damaged skin and hence the previous name actinic granuloma. A similar process occurs on the conjunctiva. Over the past three decades only four cases of conjunctival actinic granuloma have been documented. All the previous patients were females with lesions in nasal or temporal bulbar conjunctiva varying 2-3 mm in size. We report a male patient aged 70 years presenting with a 14 mm × 7 mm fleshy mass on right lower bulbar conjunctiva. Clinical differential diagnoses were lymphoma, squamous cell carcinoma in situ and amyloidosis. Surgical excision followed by histopathology confirmed it to be a case of actinic granuloma. This is the first case of isolated conjunctival actinic granuloma of such a large size reported from India.

Published
2014
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5. Meibomian gland dysfunction in a case of ichthyosis follicularis with alopecia and photophobia syndrome

Author

Tarannum Fatima, Umang Mathur, and Manisha Acharya

Subjects
Clinical profile, Indian population, optic neuritis treatment trial, optic neuritis, Decompression of the orbit, diplopia, orbit, thyroid exophthalmos, thyroid ophthalmopathy, Limbus incision, subconjunctival incision, sutureless manual small-incision cataract surgery, wound construction, Central retinal vein occlusion, intravitrealbevacizumab, intravitrealtriamcinolone acetonide, macular edema, Contrast sensitivity, fixation, microperimeter, normative data, retinal sensitivity, Optical coherence tomography, optic disc pit, retinal detachment, retinoschisis, Homocysteine, retinal vein occlusion, visual impairment, Diabetic macular edema, monocyte chemoattractant protein-1, soluble intracellular adhesion molecule-1, vascular endothelial growth factor, Compressive optic neuropathy, humphrey visual field, ischemic optic neuropathy, multifocal visual evoked potential, Age, body mass index, gender, high density lipoprotein, intraocular pressure, lipid profiles, total cholesterol, triglyceride, Capsular tension ring, cataract, intraocular lens, myopia, phacoemulsification, posterior capsular opacification, Ethnicity, Indian, macular thickness, normative, retinal nerve fiber layer, Ocular torticollis, superior oblique palsy, surgery, Barriers to follow-up, pediatric cataract, visual outcome, Cataract, intracameral mydriatic solution, no preoperative mydriatic, Disc edema, neem oil, putamen, toxin-induced encephalopathy, Toxic Optic Neuropathy Secondary to Consumption of Neem Oil, Absent thumb, craniofacial defects, limbal dermoid, Nager syndrome, Keratitis, Rhodotorula sp, Polymerase chain reaction, Atypical, cholesterol granuloma, Capsular block syndrome, optic neuropathy, Haptic fracture, posterior chamber intraocular lens fracture, spontaneous fracture, Bacterial conjunctivitis, conjunctivitis, gram negative diplococcus, Neisseria sicca, netilmicin, Aspergillosis, endophthalmitis, vitrectomy, voriconazole, Eyelid retraction, orbital infection, orbital neonatal abscess, neonatal abscess, Dirofilaria, intraocular dirofilaria, worm, Axenfeld-Rieger Syndrome, anterior segment dysgenesis, blepharophimosis ptosis epicanthus inversus syndrome, glaucoma, Actinic granuloma, conjunctiva, granuloma annulare, necrobiosis lipoidica, Internal limiting membrane, macular hole, optical coherence tomography, re-surgery, Ichthyosis follicularis, alopecia and photophobia syndrome, meibomian gland dysfunction, ocular invovement, Ophthalmology, RE1-994
Abstract

We are reporting an interesting case of ichthyosis follicularis with alopecia and photophobia syndrome in a daughter and father from the Indian subcontinent associated with Meibomian gland dysfunction. A three-year-old female child presented with pain, redness and severe photophobia in both eyes since one month. Cutaneous examination revealed ichthyosis, absence of hair all over the body including eyebrows, scalp and angular cheilosis. Ocular examination revealed bilateral severe meibomianitis, multiple superficial punctate keratitides in right eye and corneal epithelial defect in the left eye. Other systemic features were prominent high forehead and large ears. Her father had similar symptoms. Her symptoms improved after adequate treatment of meibomian gland dysfunction. She is asymptomatic at present.

Published
2014
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6. Isolated traumatic aniridia after trabeculectomy in a pseudophakic eye

Author

Subashini Kaliaperumal, Robin Troutbeck, Wallop Iemsomboon, and Adrian Farinelli

Subjects
Clinical profile, Indian population, optic neuritis treatment trial, optic neuritis, Decompression of the orbit, diplopia, orbit, thyroid exophthalmos, thyroid ophthalmopathy, Limbus incision, subconjunctival incision, sutureless manual small-incision cataract surgery, wound construction, Central retinal vein occlusion, intravitrealbevacizumab, intravitrealtriamcinolone acetonide, macular edema, Contrast sensitivity, fixation, microperimeter, normative data, retinal sensitivity, Optical coherence tomography, optic disc pit, retinal detachment, retinoschisis, Homocysteine, retinal vein occlusion, visual impairment, Diabetic macular edema, monocyte chemoattractant protein-1, soluble intracellular adhesion molecule-1, vascular endothelial growth factor, Compressive optic neuropathy, humphrey visual field, ischemic optic neuropathy, multifocal visual evoked potential, Age, body mass index, gender, high density lipoprotein, intraocular pressure, lipid profiles, total cholesterol, triglyceride, Capsular tension ring, cataract, intraocular lens, myopia, phacoemulsification, posterior capsular opacification, Ethnicity, Indian, macular thickness, normative, retinal nerve fiber layer, Ocular torticollis, superior oblique palsy, surgery, Barriers to follow-up, pediatric cataract, visual outcome, Cataract, intracameral mydriatic solution, no preoperative mydriatic, Disc edema, neem oil, putamen, toxin-induced encephalopathy, Toxic Optic Neuropathy Secondary to Consumption of Neem Oil, Absent thumb, craniofacial defects, limbal dermoid, Nager syndrome, Keratitis, Rhodotorula sp, Polymerase chain reaction, Atypical, cholesterol granuloma, Capsular block syndrome, optic neuropathy, Haptic fracture, posterior chamber intraocular lens fracture, spontaneous fracture, Bacterial conjunctivitis, conjunctivitis, gram negative diplococcus, Neisseria sicca, netilmicin, Aspergillosis, endophthalmitis, vitrectomy, voriconazole, Eyelid retraction, orbital infection, orbital neonatal abscess, neonatal abscess, Dirofilaria, intraocular dirofilaria, worm, Axenfeld-Rieger Syndrome, anterior segment dysgenesis, blepharophimosis ptosis epicanthus inversus syndrome, glaucoma, Actinic granuloma, conjunctiva, granuloma annulare, necrobiosis lipoidica, Internal limiting membrane, macular hole, optical coherence tomography, re-surgery, Ichthyosis follicularis, alopecia and photophobia syndrome, meibomian gland dysfunction, ocular invovement, Collagen cross-linking, pellucid marginal degeneration, Pentacam HR, Aniridia, blunt trauma, detached iris, iridodialysis, Ophthalmology, RE1-994
Abstract

This is a single case report of an elderly patient who had blunt trauma in an eye that had phacoemulsification and two trabeculectomies. She had good vision with a well-functioning bleb before the trauma. She presented during her routine follow-up visit for glaucoma with isolated aniridia and an intact globe. The capsular bag, zonules, and the intraocular lens were intact. The cupping was 0.8, and the rest of the fundus and macula were normal. Pigments were seen over the sclera extending posteriorly upto the fornix. Gonioscopy revealed only faint pigments at the fistula. Following the trauma, the intraocular pressure had increased to 26 mm Hg. The mechanism and the management of the glaucoma are discussed.

Published
2014
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7. Implantation of iris-claw Artisan intraocular lens for aphakia in Fuchs′ heterochromic iridocyclitis

Author

Ahmad Kheirkhah, Mojgan Nikdel, and Hadi Ghadimi

Subjects
Clinical profile, Indian population, optic neuritis treatment trial, optic neuritis, Decompression of the orbit, diplopia, orbit, thyroid exophthalmos, thyroid ophthalmopathy, Limbus incision, subconjunctival incision, sutureless manual small-incision cataract surgery, wound construction, Central retinal vein occlusion, intravitrealbevacizumab, intravitrealtriamcinolone acetonide, macular edema, Contrast sensitivity, fixation, microperimeter, normative data, retinal sensitivity, Optical coherence tomography, optic disc pit, retinal detachment, retinoschisis, Homocysteine, retinal vein occlusion, visual impairment, Diabetic macular edema, monocyte chemoattractant protein-1, soluble intracellular adhesion molecule-1, vascular endothelial growth factor, Compressive optic neuropathy, humphrey visual field, ischemic optic neuropathy, multifocal visual evoked potential, Age, body mass index, gender, high density lipoprotein, intraocular pressure, lipid profiles, total cholesterol, triglyceride, Capsular tension ring, cataract, intraocular lens, myopia, phacoemulsification, posterior capsular opacification, Ethnicity, Indian, macular thickness, normative, retinal nerve fiber layer, Ocular torticollis, superior oblique palsy, surgery, Barriers to follow-up, pediatric cataract, visual outcome, Cataract, intracameral mydriatic solution, no preoperative mydriatic, Disc edema, neem oil, putamen, toxin-induced encephalopathy, Toxic Optic Neuropathy Secondary to Consumption of Neem Oil, Absent thumb, craniofacial defects, limbal dermoid, Nager syndrome, Keratitis, Rhodotorula sp, Polymerase chain reaction, Atypical, cholesterol granuloma, Capsular block syndrome, optic neuropathy, Haptic fracture, posterior chamber intraocular lens fracture, spontaneous fracture, Bacterial conjunctivitis, conjunctivitis, gram negative diplococcus, Neisseria sicca, netilmicin, Aspergillosis, endophthalmitis, vitrectomy, voriconazole, Eyelid retraction, orbital infection, orbital neonatal abscess, neonatal abscess, Dirofilaria, intraocular dirofilaria, worm, Axenfeld-Rieger Syndrome, anterior segment dysgenesis, blepharophimosis ptosis epicanthus inversus syndrome, glaucoma, Actinic granuloma, conjunctiva, granuloma annulare, necrobiosis lipoidica, Internal limiting membrane, macular hole, optical coherence tomography, re-surgery, Ichthyosis follicularis, alopecia and photophobia syndrome, meibomian gland dysfunction, ocular invovement, Collagen cross-linking, pellucid marginal degeneration, Pentacam HR, Aniridia, blunt trauma, detached iris, iridodialysis, Aphakia, Fuchs′ heterochromic iridocyclitis, iris-claw Artisan intraocular lens, Ophthalmology, RE1-994
Abstract

Implantation of iris-claw Artisan intraocular lens (IOL) is a surgical option for correction of aphakia; however, these IOLs have not been used in eyes with uveitis including Fuchs′ heterochromic iridocyclitis (FHI) due to possible risk of severe postoperative intraocular inflammation. In the case reported here, we secondarily implanted an Artisan IOL in a 28-year-old man with FHI who had aphakia with no capsular support due to a previous complicated cataract surgery. Enclavation was easily performed and no intraoperative complication was noted. Postoperative course was uneventful with no significant anterior chamber inflammation during 12 months of follow-up. Although there were few deposits on the IOL surface, the patient achieved a best-corrected visual acuity of 20/20 without developing glaucoma or other complications. Therefore, Artisan IOL may be considered for correction of aphakia in patients with FHI. However, studies on large number of patients are required to evaluate safety of the procedure.

Published
2014
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8. Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.

Author

Shah, Bhavin M., Dada, Tanuj, Panda, Anita, Tanwar, Mukesh, Bhartiya, Shibal, and Dada, Rima

Subjects
*AXENFELD-Rieger syndrome, *BLEPHAROPTOSIS, *GLAUCOMA, *TRANSCRIPTION factors, EYE muscle abnormalities
Abstract

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. 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. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/ forked transcription factors (FOX) involved in a variety of developmental processes. [ABSTRACT FROM AUTHOR]

Published
2014
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9. A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction.

Author

Gupta N, Ganesh S, Singla P, and Kumar S

Subjects
Blepharophimosis diagnosis, Dacryocystorhinostomy, Humans, Infant, Lacrimal Duct Obstruction diagnosis, Lacrimal Duct Obstruction therapy, Male, Natural Orifice Endoscopic Surgery, Skin Abnormalities diagnosis, Urogenital Abnormalities diagnosis, Blepharophimosis complications, Lacrimal Duct Obstruction congenital, Nasolacrimal Duct abnormalities, Skin Abnormalities complications, Urogenital Abnormalities complications
Abstract

Purpose: The aim of reporting this case is to describe a rare combination of blepharophimosis-ptosis-epicanthus inversus syndrome with congenital nasolacrimal duct obstruction. A variety of lacrimal anomalies have been seen in blepharophimosis-ptosis-epicanthus inversus syndrome but the occurrence of nasolacrimal duct obstruction is rare., Method: The blepharophimosis-ptosis-epicanthus inversus syndrome is an autosomal dominant rare genetic defect with clinical manifestation of dysplasia of the eyelids, palpebral fissures, flat nasal bridge, and ptosis. A 20-month-old boy was referred with the complaints of watering and discharge from his right eyes since birth. On examination, the child had all the features of blepharophimosis-ptosis-epicanthus inversus syndrome with right congenital nasolacrimal duct obstruction in line with the published reports., Result: On endoscopic probing and irrigation, the probe could not be visualized into the inferior meatus. On dacryoendoscopy, the membranous part of the nasolacrimal duct was found to be completely obliterated with no light transmission into the nose indicating a malformed nasolacrimal duct. The child was managed by endoscopic dacryocystorhinostomy. We could find only one case report published so far on the combination of congenital nasolacrimal duct obstruction with blepharophimosis-ptosis-epicanthus inversus syndrome. This study adds one more case of blepharophimosis-ptosis-epicanthus inversus syndrome with congenital nasolacrimal duct obstruction and adjuvant use of dacryoendoscopy.

Published
2021
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10. Annular elastolytic giant cell granuloma of conjunctiva: a case report

Author

Saurabh Sanyal, Karabi Konar, and Arindam Rakshit

Subjects
Male, Pathology, intracameral mydriatic solution, retinoschisis, Necrobiosis, visual impairment, retinal sensitivity, lcsh:Ophthalmology, no preoperative mydriatic, pediatric cataract, Ethnicity, Homocysteine, orbit, posterior chamber intraocular lens fracture, fixation, vascular endothelial growth factor, cholesterol granuloma, ischemic optic neuropathy, spontaneous fracture, sutureless manual small-incision cataract surgery, craniofacial defects, Central retinal vein occlusion, subconjunctival incision, Ocular torticollis, Polymerase chain reaction, normative, Haptic fracture, endophthalmitis, granuloma annulare, retinal vein occlusion, optic disc pit, Annular elastolytic giant-cell granuloma, visual outcome, Brief Communications, Indian population, medicine.medical_specialty, Conjunctiva, conjunctiva, orbital neonatal abscess, vitrectomy, Clinical profile, thyroid exophthalmos, Cataract, intravitrealbevacizumab, macular thickness, Age, Granuloma, Giant Cell, superior oblique palsy, necrobiosis lipoidica, Aspergillosis, Humans, myopia, neonatal abscess, Granuloma annulare, Aged, macular edema, Absent thumb, Capsular tension ring, toxin-induced encephalopathy, retinal nerve fiber layer, medicine.disease, Decompression of the orbit, Bacterial conjunctivitis, Ophthalmology, glaucoma, lcsh:RE1-994, phacoemulsification, Toxic Optic Neuropathy Secondary to Consumption of Neem Oil, Limbus incision, intravitrealtriamcinolone acetonide, intraocular pressure, Disc edema, Biopsy, intraocular lens, Conjunctival Diseases, humphrey visual field, surgery, Diabetic macular edema, orbital infection, hemic and lymphatic diseases, Actinic granuloma, gender, conjunctivitis, diplopia, total cholesterol, Indian, wound construction, microperimeter, normative data, medicine.anatomical_structure, high density lipoprotein, Granuloma, putamen, optic neuritis treatment trial, Eyelid retraction, posterior capsular opacification, intraocular dirofilaria, lipid profiles, monocyte chemoattractant protein-1, Compressive optic neuropathy, Neisseria sicca, netilmicin, body mass index, blepharophimosis ptosis epicanthus inversus syndrome, soluble intracellular adhesion molecule-1, Diagnosis, Differential, retinal detachment, worm, voriconazole, medicine, Contrast sensitivity, triglyceride, limbal dermoid, optic neuritis, Keratitis, thyroid ophthalmopathy, Optical coherence tomography, business.industry, Barriers to follow-up, neem oil, Capsular block syndrome, Dermatology, optic neuropathy, multifocal visual evoked potential, Rhodotorula sp, gram negative diplococcus, Axenfeld-Rieger Syndrome, Giant cell, anterior segment dysgenesis, business, Atypical, Dirofilaria, Nager syndrome
Abstract

Annular elastolytic giant cell granuloma is a condition characterized histologically by damaged elastic fibers associated with preponderance of giant cells along with absence of necrobiosis, lipid, mucin, and pallisading granuloma. It usually occurs on sun-damaged skin and hence the previous name actinic granuloma. A similar process occurs on the conjunctiva. Over the past three decades only four cases of conjunctival actinic granuloma have been documented. All the previous patients were females with lesions in nasal or temporal bulbar conjunctiva varying 2-3 mm in size. We report a male patient aged 70 years presenting with a 14 mm × 7 mm fleshy mass on right lower bulbar conjunctiva. Clinical differential diagnoses were lymphoma, squamous cell carcinoma in situ and amyloidosis. Surgical excision followed by histopathology confirmed it to be a case of actinic granuloma. This is the first case of isolated conjunctival actinic granuloma of such a large size reported from India.

Published
2014

11. Repeat gas insufflation for successful closure of idiopathic macular hole following failed primary surgery

Author

Pukhraj Rishi, Ekta Rishi, and Sumanth Reddy

Subjects
intracameral mydriatic solution, medicine.medical_treatment, retinoschisis, visual impairment, Visual Acuity, Vitrectomy, Intraocular lens, retinal sensitivity, lcsh:Ophthalmology, no preoperative mydriatic, pediatric cataract, Ethnicity, Macular hole, Homocysteine, orbit, posterior chamber intraocular lens fracture, Fluorocarbons, fixation, vascular endothelial growth factor, cholesterol granuloma, ischemic optic neuropathy, spontaneous fracture, sutureless manual small-incision cataract surgery, craniofacial defects, Central retinal vein occlusion, subconjunctival incision, Ocular torticollis, Polymerase chain reaction, normative, Haptic fracture, endophthalmitis, granuloma annulare, retinal vein occlusion, optic disc pit, visual outcome, Indian population, medicine.medical_specialty, conjunctiva, orbital neonatal abscess, vitrectomy, Clinical profile, thyroid exophthalmos, Cataract, intravitrealbevacizumab, macular thickness, Age, superior oblique palsy, necrobiosis lipoidica, Aspergillosis, Humans, myopia, neonatal abscess, Aged, macular edema, Absent thumb, Capsular tension ring, toxin-induced encephalopathy, retinal nerve fiber layer, Phacoemulsification, re-surgery, medicine.disease, Retinal Perforations, Decompression of the orbit, eye diseases, macular hole, Ophthalmology, Bacterial conjunctivitis, glaucoma, lcsh:RE1-994, Toxic Optic Neuropathy Secondary to Consumption of Neem Oil, Limbus incision, intravitrealtriamcinolone acetonide, intraocular pressure, Disc edema, Visual acuity, genetic structures, intraocular lens, Retinal perforation, humphrey visual field, surgery, Postoperative Complications, Diabetic macular edema, orbital infection, Actinic granuloma, gender, conjunctivitis, diplopia, total cholesterol, Indian, wound construction, microperimeter, normative data, high density lipoprotein, Cuff, putamen, Female, medicine.symptom, optic neuritis treatment trial, Eyelid retraction, Tomography, Optical Coherence, Insufflation, posterior capsular opacification, intraocular dirofilaria, lipid profiles, monocyte chemoattractant protein-1, Compressive optic neuropathy, Neisseria sicca, netilmicin, body mass index, blepharophimosis ptosis epicanthus inversus syndrome, soluble intracellular adhesion molecule-1, retinal detachment, Internal limiting membrane, worm, medicine, voriconazole, Contrast sensitivity, triglyceride, Letters to the Editor, limbal dermoid, optic neuritis, Keratitis, thyroid ophthalmopathy, optical coherence tomography, business.industry, Barriers to follow-up, neem oil, Capsular block syndrome, Surgery, optic neuropathy, multifocal visual evoked potential, Rhodotorula sp, gram negative diplococcus, Axenfeld-Rieger Syndrome, anterior segment dysgenesis, sense organs, business, Atypical, Dirofilaria, Nager syndrome
Abstract

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 idiopathic, full-thickness macular hole in left eye; confirmed by optical coherence tomography (OCT). Patient underwent phacoemulsification with intraocular lens (IOL) implantation, vitrectomy, internal limiting membrane (ILM) peeling and 14% C 3 F 8 gas injection. OCT repeated after six weeks revealed type II closure with cuff of subretinal fluid. Four weeks later, patient underwent fluid-gas exchange with 14% C 3 F 8 gas and postoperative positioning. OCT was repeated after two weeks, which showed complete closure of the macular hole. OCT can help in selection of eyes for re-surgery that stand a better chance for hole closure. Macular holes with cuff of subretinal fluid are probably more likely to close on re-surgery than those without. However, larger studies with longer follow-up are required to validate this finding.

Published
2013

12. Isolated traumatic aniridia after trabeculectomy in a pseudophakic eye

Author

Robin Troutbeck, Subashini Kaliaperumal, Wallop Iemsomboon, and Adrian Farinelli

Subjects
intracameral mydriatic solution, medicine.medical_treatment, retinoschisis, visual impairment, Intraocular lens, Ichthyosis follicularis, retinal sensitivity, Eye Injuries, lcsh:Ophthalmology, no preoperative mydriatic, pediatric cataract, Ethnicity, Trabeculectomy, Homocysteine, orbit, posterior chamber intraocular lens fracture, fixation, vascular endothelial growth factor, cholesterol granuloma, ischemic optic neuropathy, spontaneous fracture, sutureless manual small-incision cataract surgery, craniofacial defects, Central retinal vein occlusion, subconjunctival incision, Ocular torticollis, Sclera, Polymerase chain reaction, normative, Haptic fracture, endophthalmitis, granuloma annulare, retinal vein occlusion, optic disc pit, visual outcome, Brief Communications, Glaucoma, Open-Angle, Indian population, medicine.medical_specialty, conjunctiva, orbital neonatal abscess, vitrectomy, Clinical profile, thyroid exophthalmos, Cataract, intravitrealbevacizumab, macular thickness, Age, superior oblique palsy, Gonioscopy, necrobiosis lipoidica, Aspergillosis, Humans, myopia, neonatal abscess, Aged, macular edema, Absent thumb, Iridodialysis, Capsular tension ring, toxin-induced encephalopathy, retinal nerve fiber layer, Phacoemulsification, re-surgery, medicine.disease, Decompression of the orbit, eye diseases, macular hole, Ophthalmology, Bacterial conjunctivitis, glaucoma, Pentacam HR, lcsh:RE1-994, Toxic Optic Neuropathy Secondary to Consumption of Neem Oil, Limbus incision, intravitrealtriamcinolone acetonide, intraocular pressure, Disc edema, Intraocular pressure, genetic structures, intraocular lens, Glaucoma, humphrey visual field, surgery, Postoperative Complications, Diabetic macular edema, orbital infection, Collagen cross-linking, Actinic granuloma, gender, conjunctivitis, diplopia, pellucid marginal degeneration, Aniridia, iridodialysis, medicine.diagnostic_test, blunt trauma, total cholesterol, Indian, wound construction, microperimeter, meibomian gland dysfunction, normative data, medicine.anatomical_structure, high density lipoprotein, ocular invovement, putamen, Female, optic neuritis treatment trial, Eyelid retraction, posterior capsular opacification, alopecia and photophobia syndrome, intraocular dirofilaria, lipid profiles, Pseudophakia, monocyte chemoattractant protein-1, Compressive optic neuropathy, Neisseria sicca, netilmicin, body mass index, blepharophimosis ptosis epicanthus inversus syndrome, soluble intracellular adhesion molecule-1, detached iris, retinal detachment, Internal limiting membrane, worm, medicine, voriconazole, Contrast sensitivity, triglyceride, limbal dermoid, optic neuritis, Keratitis, thyroid ophthalmopathy, optical coherence tomography, business.industry, Barriers to follow-up, neem oil, Capsular block syndrome, Surgery, optic neuropathy, multifocal visual evoked potential, Rhodotorula sp, gram negative diplococcus, Axenfeld-Rieger Syndrome, anterior segment dysgenesis, sense organs, business, Atypical, Dirofilaria, Nager syndrome
Abstract

This is a single case report of an elderly patient who had blunt trauma in an eye that had phacoemulsification and two trabeculectomies. She had good vision with a well-functioning bleb before the trauma. She presented during her routine follow-up visit for glaucoma with isolated aniridia and an intact globe. The capsular bag, zonules, and the intraocular lens were intact. The cupping was 0.8, and the rest of the fundus and macula were normal. Pigments were seen over the sclera extending posteriorly upto the fornix. Gonioscopy revealed only faint pigments at the fistula. Following the trauma, the intraocular pressure had increased to 26 mm Hg. The mechanism and the management of the glaucoma are discussed.

Published
2013

13. Collagen cross-linking in the treatment of pellucid marginal degeneration

Author

Eszter Szalai, Ziad Hassan, László Módis, András Berta, and Gabor Nemeth

Subjects
Male, Collagen cross linking, intracameral mydriatic solution, retinoschisis, medicine.medical_treatment, Visual Acuity, visual impairment, Ichthyosis follicularis, retinal sensitivity, lcsh:Ophthalmology, no preoperative mydriatic, pediatric cataract, Ethnicity, Homocysteine, orbit, posterior chamber intraocular lens fracture, Photosensitizing Agents, fixation, vascular endothelial growth factor, Irregular astigmatism, cholesterol granuloma, ischemic optic neuropathy, spontaneous fracture, sutureless manual small-incision cataract surgery, craniofacial defects, Central retinal vein occlusion, subconjunctival incision, Ocular torticollis, Polymerase chain reaction, normative, Haptic fracture, endophthalmitis, granuloma annulare, retinal vein occlusion, optic disc pit, Collagen, visual outcome, Brief Communications, Indian population, medicine.medical_specialty, conjunctiva, orbital neonatal abscess, vitrectomy, Clinical profile, thyroid exophthalmos, Cataract, intravitrealbevacizumab, macular thickness, Age, superior oblique palsy, necrobiosis lipoidica, Humans, Aspergillosis, myopia, neonatal abscess, Corneal transplantation, macular edema, Absent thumb, Capsular tension ring, toxin-induced encephalopathy, retinal nerve fiber layer, re-surgery, medicine.disease, Decompression of the orbit, eye diseases, macular hole, Bacterial conjunctivitis, Ophthalmology, glaucoma, Photochemotherapy, Pentacam HR, lcsh:RE1-994, phacoemulsification, Toxic Optic Neuropathy Secondary to Consumption of Neem Oil, Limbus incision, intravitrealtriamcinolone acetonide, intraocular pressure, Disc edema, Intraocular pressure, Visual acuity, genetic structures, intraocular lens, Pellucid marginal degeneration, humphrey visual field, surgery, Diabetic macular edema, orbital infection, Collagen cross-linking, Actinic granuloma, Corneal thinning, gender, conjunctivitis, diplopia, pellucid marginal degeneration, Corneal Dystrophies, Hereditary, medicine.diagnostic_test, total cholesterol, Indian, wound construction, microperimeter, meibomian gland dysfunction, Orvostudományok, Middle Aged, normative data, Corneal topography, Cross-Linking Reagents, high density lipoprotein, ocular invovement, putamen, medicine.symptom, optic neuritis treatment trial, Eyelid retraction, posterior capsular opacification, alopecia and photophobia syndrome, intraocular dirofilaria, lipid profiles, Corneal Stroma, monocyte chemoattractant protein-1, Compressive optic neuropathy, Neisseria sicca, netilmicin, body mass index, blepharophimosis ptosis epicanthus inversus syndrome, soluble intracellular adhesion molecule-1, Klinikai orvostudományok, retinal detachment, Internal limiting membrane, worm, voriconazole, medicine, Contrast sensitivity, triglyceride, limbal dermoid, optic neuritis, Keratitis, thyroid ophthalmopathy, optical coherence tomography, business.industry, Barriers to follow-up, Corneal Topography, neem oil, Capsular block syndrome, optic neuropathy, Surgery, multifocal visual evoked potential, Rhodotorula sp, gram negative diplococcus, Axenfeld-Rieger Syndrome, anterior segment dysgenesis, sense organs, business, Atypical, Dirofilaria, Nager syndrome
Abstract

Pellucid marginal degeneration (PMD) is an uncommon cause of inferior peripheral corneal thinning disorder, characterized by irregular astigmatism. We analyzed a case of bilateral PMD patient and treated one eye with corneal collagen cross-linking (CXL) therapy. Corneal topography was characteristic for PMD. Visual acuity, slitlamp examinations, tonometry, and corneal thickness were observed. Simulated keratometric and topographic index values were detected with corneal topography. Uncorrected, LogMAR visual acuity has improved from +0.8 to +0.55 during the 6 months and +0.3 during the 8 months follow-up after CXL. Pachymetry values and intraocular pressure showed no changes. Keratometric values and topografic indexes disclosed no progression of the disease. CXL may postpone or eliminate the need of corneal transplantation in cases with PMD.

Published
2013

14. Implantation of iris-claw Artisan intraocular lens for aphakia in Fuchs′ heterochromic iridocyclitis

Author

Mojgan Nikdel, Ahmad Kheirkhah, and Hadi Ghadimi

Subjects
Male, intracameral mydriatic solution, medicine.medical_treatment, retinoschisis, Visual Acuity, visual impairment, Iris, Intraocular lens, Aphakia, Postcataract, Iridocyclitis, Ichthyosis follicularis, retinal sensitivity, Lens Implantation, Intraocular, lcsh:Ophthalmology, no preoperative mydriatic, pediatric cataract, Fuchs heterochromic iridocyclitis, Ethnicity, Iris claw, Homocysteine, orbit, posterior chamber intraocular lens fracture, fixation, vascular endothelial growth factor, cholesterol granuloma, ischemic optic neuropathy, spontaneous fracture, sutureless manual small-incision cataract surgery, craniofacial defects, Central retinal vein occlusion, subconjunctival incision, Ocular torticollis, Polymerase chain reaction, normative, Haptic fracture, endophthalmitis, granuloma annulare, retinal vein occlusion, optic disc pit, visual outcome, Brief Communications, Indian population, medicine.medical_specialty, conjunctiva, orbital neonatal abscess, Fuchs′ heterochromic iridocyclitis, vitrectomy, Clinical profile, thyroid exophthalmos, Cataract, intravitrealbevacizumab, macular thickness, Age, superior oblique palsy, necrobiosis lipoidica, Humans, Aspergillosis, myopia, neonatal abscess, Aphakia, macular edema, Absent thumb, Capsular tension ring, toxin-induced encephalopathy, retinal nerve fiber layer, re-surgery, medicine.disease, Decompression of the orbit, eye diseases, macular hole, Ophthalmology, Bacterial conjunctivitis, glaucoma, Pentacam HR, lcsh:RE1-994, phacoemulsification, Toxic Optic Neuropathy Secondary to Consumption of Neem Oil, Limbus incision, intravitrealtriamcinolone acetonide, intraocular pressure, Disc edema, Visual acuity, genetic structures, intraocular lens, Glaucoma, humphrey visual field, surgery, Diabetic macular edema, orbital infection, Collagen cross-linking, Actinic granuloma, gender, conjunctivitis, diplopia, pellucid marginal degeneration, Aniridia, Lenses, Intraocular, iridodialysis, blunt trauma, total cholesterol, Indian, wound construction, microperimeter, meibomian gland dysfunction, normative data, high density lipoprotein, ocular invovement, putamen, medicine.symptom, Uveitis, optic neuritis treatment trial, Eyelid retraction, Adult, posterior capsular opacification, alopecia and photophobia syndrome, intraocular dirofilaria, Intraoperative Complication, lipid profiles, monocyte chemoattractant protein-1, Compressive optic neuropathy, Neisseria sicca, netilmicin, body mass index, blepharophimosis ptosis epicanthus inversus syndrome, Cataract Extraction, iris-claw Artisan intraocular lens, Prosthesis Design, soluble intracellular adhesion molecule-1, detached iris, retinal detachment, Internal limiting membrane, worm, medicine, voriconazole, Contrast sensitivity, triglyceride, limbal dermoid, optic neuritis, Keratitis, thyroid ophthalmopathy, optical coherence tomography, business.industry, Barriers to follow-up, neem oil, Capsular block syndrome, optic neuropathy, multifocal visual evoked potential, Rhodotorula sp, gram negative diplococcus, Axenfeld-Rieger Syndrome, anterior segment dysgenesis, sense organs, business, Atypical, Dirofilaria, Fuchs’ heterochromic iridocyclitis, Nager syndrome
Abstract

Implantation of iris-claw Artisan intraocular lens (IOL) is a surgical option for correction of aphakia; however, these IOLs have not been used in eyes with uveitis including Fuchs' heterochromic iridocyclitis (FHI) due to possible risk of severe postoperative intraocular inflammation. In the case reported here, we secondarily implanted an Artisan IOL in a 28-year-old man with FHI who had aphakia with no capsular support due to a previous complicated cataract surgery. Enclavation was easily performed and no intraoperative complication was noted. Postoperative course was uneventful with no significant anterior chamber inflammation during 12 months of follow-up. Although there were few deposits on the IOL surface, the patient achieved a best-corrected visual acuity of 20/20 without developing glaucoma or other complications. Therefore, Artisan IOL may be considered for correction of aphakia in patients with FHI. However, studies on large number of patients are required to evaluate safety of the procedure.

Published
2014

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