●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven fa...●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning.展开更多
AIM:To evaluate the long-term outcome of implantation of black diaphragm intraocular (BDI) lens combined with penetrating keratoplasty (PKP) for managing aphakic eyes with traumatic aniridia and corneal damage. METHOD...AIM:To evaluate the long-term outcome of implantation of black diaphragm intraocular (BDI) lens combined with penetrating keratoplasty (PKP) for managing aphakic eyes with traumatic aniridia and corneal damage. METHODS: Six aphakic eyes of six patients with traumatic aniridia and corneal damage had BDI lens implantation at Qingdao Eye Hospital, Shandong Eye Institute from June 2008 to November 2011. Medical records of the patients were reviewed. Three patients received PKP and after 12-18months were implanted with BDI lens. The other three patients completed PKP and BDI lens implantation at the same time. The corrected visual acuity, intraocular pressure and number of corneal endothelial cells were monitored. RESULTS: The patients were followed up for an average of 24.3 ±12.1months (range 14-48 months). All BDI lenses were located well. The best corrected visual acuity got improved in 5 patients (0.1-1.0) and decreased in 1 patient from 0.4 to 0.2. Three patients had normal intraocular pressure (IOP) after implantation. Two patients required antiglaucoma medications to control IOP within the normal range and 1 patient implanted Ahmed glaucoma valve to control IOP. The corneal grafts kept transparent in all eyes and the corneal endothelial counting >1 000/mm2 , although two patients experienced acute graft rejection and loss more than 30% corneal endothelial cells.CONCLUSION: Implantation of BDI lens combined with PKP is an effective option for managing aphakic eyes with traumatic aniridia and corneal damage. Although the results in our study are encouraging, additional studies of the long -term safety and efficacy are required. Alarger study population and longer follow-up may be beneficial.展开更多
Background: Congenital aniridia is a rare, panophthalmic disorder that can cause vision loss. Knowledge of aniridia as an isolated ocular abnormality or as a part of systemic abnormalities is important. Management of ...Background: Congenital aniridia is a rare, panophthalmic disorder that can cause vision loss. Knowledge of aniridia as an isolated ocular abnormality or as a part of systemic abnormalities is important. Management of congenital aniridia should be carried out comprehensively based on it. Objective: To describe clinical features and management of congenital aniridia in a top referral eye hospital in Indonesia. Methods: A retrospective study involving 43 eyes of 22 children (younger than 18 years) diagnosed with congenital aniridia from 2013 to 2018. A detailed history was taken and a complete ophthalmic examination and a systemic examination were performed as required. Clinical characteristics associated with ocular and systemic manifestation and its management were noted. Results: Mean age of patients was 7.6 ± 5.2 years (range 0 - 17 years). Most cases were female (55%) and sporadic (77%). Twenty-one (96%) patients had bilateral involvement at presentation. Foveal hypoplasia was found in 36 eyes (84%), followed by cataract in 26 eyes (61%) and secondary glaucoma in 13 eyes (30%). Nine patients (43%) with cataract had cataract surgery performed. Only 1 patient (5%) with secondary glaucoma underwent filtration surgery. All patients had moderate to severe visual impairment and low vision aid was considered. Regarding its systemic manifestation, none of the patients was diagnosed with an abnormality in the abdomen. Conclusion: There were various ocular features associated with congenital aniridia. Understanding the clinical characteristic and its management could improve the quality of vision in aniridia patients.展开更多
Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been propo...Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been proposed, including a failure in the development of the neural ectoderm and/or an aberrant development of mesoderm. We observed the ERG from 19 patients with congenital aniridia. Fourteen patients had abnormal ERG, including the reduced a wave trough under dark adapted red stimuli with dark adap...展开更多
Purpose: To reconstruct the anatomic and functional impairment in patients with post-traumatic aniridia, aphakia, and retinal detachment.
Methods: Four patients with unilateral aniridia and aphakia as well as retinal ...Purpose: To reconstruct the anatomic and functional impairment in patients with post-traumatic aniridia, aphakia, and retinal detachment.
Methods: Four patients with unilateral aniridia and aphakia as well as retinal detachment as results of severe eye injuries underwent scleral buckling, vitrectomy, membrane peeling, endolaser photocoagulation, silicone oil or gas temponade, combined with iris diaphragm-IOL implantation.
Results: All four patients achieved successfully anatomic and functional reconstruction after surgery. During five to 22 months postoperative follow-up, all retinas remained attached. The final visual acuity increased from finger counting to 0.1 ～ 0.3.
Conclusions: The combination of vitreoretinal surgery and iris diaphrgm-IOL implantation is an effective method for post-traumatic aniridia, aphakia and traumatic retinal detachment. It could ameliorate photophobia and improve the biocular vision.Furthermore, artificial iris diaphragm implantation could prevent silicone oil-endothelia contact and salvage silicone keratopathy. Eye Science 2001; 17:35 ～ 38.展开更多
Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of ani...Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia. Methods Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers (D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction (PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation.Results Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA).Conclusions Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.展开更多
Background and Objective:Limbal stem cell deficiency(LSCD)describes the clinical condition when there is dysfunction of the corneal epithelial stem/progenitor cells and the inability to sustain the normal homeostasis ...Background and Objective:Limbal stem cell deficiency(LSCD)describes the clinical condition when there is dysfunction of the corneal epithelial stem/progenitor cells and the inability to sustain the normal homeostasis of the corneal epithelium.The limbal stem cells are located in a specialized area of the eye called the palisades of Vogt(POV).There have been significant advances in the diagnosis and management of LSCD over the past decade and this review focuses on the pathophysiology of LSCD,its clinical manifestations,diagnosis,and causes.Methods:Papers regarding LSCD were searched using PubMed to identify the current state of diagnosis and causes of LSCD published through to June 2022.Key Content and Findings:LSCD is clinically demonstrated by a whorl-epitheliopathy,loss of the POV,and conjunctivalization of the cornea.The diagnosis of this condition is based on clinical examination and aided by the use of impression cytology,in vivo confocal microscopy,and anterior segment optical coherence tomography(asOCT).There are many causes of LSCD,but those which are most common include chemical injuries,aniridia,contact lens wear,and Stevens-Johnson syndrome(SJS).Conclusions:While this condition is most commonly encountered by corneal specialists,it is important that other ophthalmologists recognize the possibility of LSCD as it may arise in other co-morbid eye conditions.展开更多
文摘●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning.
文摘AIM:To evaluate the long-term outcome of implantation of black diaphragm intraocular (BDI) lens combined with penetrating keratoplasty (PKP) for managing aphakic eyes with traumatic aniridia and corneal damage. METHODS: Six aphakic eyes of six patients with traumatic aniridia and corneal damage had BDI lens implantation at Qingdao Eye Hospital, Shandong Eye Institute from June 2008 to November 2011. Medical records of the patients were reviewed. Three patients received PKP and after 12-18months were implanted with BDI lens. The other three patients completed PKP and BDI lens implantation at the same time. The corrected visual acuity, intraocular pressure and number of corneal endothelial cells were monitored. RESULTS: The patients were followed up for an average of 24.3 ±12.1months (range 14-48 months). All BDI lenses were located well. The best corrected visual acuity got improved in 5 patients (0.1-1.0) and decreased in 1 patient from 0.4 to 0.2. Three patients had normal intraocular pressure (IOP) after implantation. Two patients required antiglaucoma medications to control IOP within the normal range and 1 patient implanted Ahmed glaucoma valve to control IOP. The corneal grafts kept transparent in all eyes and the corneal endothelial counting >1 000/mm2 , although two patients experienced acute graft rejection and loss more than 30% corneal endothelial cells.CONCLUSION: Implantation of BDI lens combined with PKP is an effective option for managing aphakic eyes with traumatic aniridia and corneal damage. Although the results in our study are encouraging, additional studies of the long -term safety and efficacy are required. Alarger study population and longer follow-up may be beneficial.
文摘Background: Congenital aniridia is a rare, panophthalmic disorder that can cause vision loss. Knowledge of aniridia as an isolated ocular abnormality or as a part of systemic abnormalities is important. Management of congenital aniridia should be carried out comprehensively based on it. Objective: To describe clinical features and management of congenital aniridia in a top referral eye hospital in Indonesia. Methods: A retrospective study involving 43 eyes of 22 children (younger than 18 years) diagnosed with congenital aniridia from 2013 to 2018. A detailed history was taken and a complete ophthalmic examination and a systemic examination were performed as required. Clinical characteristics associated with ocular and systemic manifestation and its management were noted. Results: Mean age of patients was 7.6 ± 5.2 years (range 0 - 17 years). Most cases were female (55%) and sporadic (77%). Twenty-one (96%) patients had bilateral involvement at presentation. Foveal hypoplasia was found in 36 eyes (84%), followed by cataract in 26 eyes (61%) and secondary glaucoma in 13 eyes (30%). Nine patients (43%) with cataract had cataract surgery performed. Only 1 patient (5%) with secondary glaucoma underwent filtration surgery. All patients had moderate to severe visual impairment and low vision aid was considered. Regarding its systemic manifestation, none of the patients was diagnosed with an abnormality in the abdomen. Conclusion: There were various ocular features associated with congenital aniridia. Understanding the clinical characteristic and its management could improve the quality of vision in aniridia patients.
文摘Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been proposed, including a failure in the development of the neural ectoderm and/or an aberrant development of mesoderm. We observed the ERG from 19 patients with congenital aniridia. Fourteen patients had abnormal ERG, including the reduced a wave trough under dark adapted red stimuli with dark adap...
文摘Purpose: To reconstruct the anatomic and functional impairment in patients with post-traumatic aniridia, aphakia, and retinal detachment.
Methods: Four patients with unilateral aniridia and aphakia as well as retinal detachment as results of severe eye injuries underwent scleral buckling, vitrectomy, membrane peeling, endolaser photocoagulation, silicone oil or gas temponade, combined with iris diaphragm-IOL implantation.
Results: All four patients achieved successfully anatomic and functional reconstruction after surgery. During five to 22 months postoperative follow-up, all retinas remained attached. The final visual acuity increased from finger counting to 0.1 ～ 0.3.
Conclusions: The combination of vitreoretinal surgery and iris diaphrgm-IOL implantation is an effective method for post-traumatic aniridia, aphakia and traumatic retinal detachment. It could ameliorate photophobia and improve the biocular vision.Furthermore, artificial iris diaphragm implantation could prevent silicone oil-endothelia contact and salvage silicone keratopathy. Eye Science 2001; 17:35 ～ 38.
基金This work was suppofled by grants from the Chinese National 973 Project(2002CB510100),863 Project(2003AA205070),the Ministry of Education 211 Project and the grants from the Beijing Ministry of Science and Technology(2002—489).
文摘Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia. Methods Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers (D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction (PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation.Results Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA).Conclusions Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.
文摘Background and Objective:Limbal stem cell deficiency(LSCD)describes the clinical condition when there is dysfunction of the corneal epithelial stem/progenitor cells and the inability to sustain the normal homeostasis of the corneal epithelium.The limbal stem cells are located in a specialized area of the eye called the palisades of Vogt(POV).There have been significant advances in the diagnosis and management of LSCD over the past decade and this review focuses on the pathophysiology of LSCD,its clinical manifestations,diagnosis,and causes.Methods:Papers regarding LSCD were searched using PubMed to identify the current state of diagnosis and causes of LSCD published through to June 2022.Key Content and Findings:LSCD is clinically demonstrated by a whorl-epitheliopathy,loss of the POV,and conjunctivalization of the cornea.The diagnosis of this condition is based on clinical examination and aided by the use of impression cytology,in vivo confocal microscopy,and anterior segment optical coherence tomography(asOCT).There are many causes of LSCD,but those which are most common include chemical injuries,aniridia,contact lens wear,and Stevens-Johnson syndrome(SJS).Conclusions:While this condition is most commonly encountered by corneal specialists,it is important that other ophthalmologists recognize the possibility of LSCD as it may arise in other co-morbid eye conditions.
