The Experts below are selected from a list of 309 Experts worldwide ranked by ideXlab platform

Suheyla Kose - One of the best experts on this subject based on the ideXlab platform.

  • Treatment results in aphakic patients with glaucoma following Congenital Cataract surgery
    International Ophthalmology, 2019
    Co-Authors: Mine Baris, Elif Demirkilinc Biler, Onder Uretmen, Suzan Guven Yilmaz, Halil Ates, Suheyla Kose
    Abstract:

    Purpose To evaluate the clinical findings and possible risk factors of patients with aphakic glaucoma following Congenital Cataract surgery and identify the factors affecting response to glaucoma treatment. Methods A retrospective chart review of 173 patients was performed who underwent Congenital Cataract surgery before the age of 12 months and 40 eyes of 25 patients with aphakic glaucoma were enrolled. Age of the patients at the time of the Cataract surgery, postoperative complications, additional ocular pathologies and the type of glaucoma treatment needed were investigated. Results Mean age of 25 patients at the time of Cataract surgery was 3.31 ± 2.28 (range 1–11) months with a mean follow-up period of 79 ± 30.5 (32–176) months. Out of 40 eyes, medical therapy was effective in 20 (50%) eyes, whereas 20 (50%) eyes needed surgery for glaucoma. In these 20 eyes, 6 (30%) eyes underwent only 1, 4 (20%) eyes underwent 2 and 10 (50%) eyes underwent 3 or more procedures. Age at the time of Cataract surgery, pupillary membrane formation and additional ocular pathologies were not significantly associated both with the need for glaucoma surgery or the number of operations ( p  ≥ 0.05). Conclusion Aphakic glaucoma following Congenital Cataract surgery is a serious complication which requires surgery in half (50%) of the patients. Usually, more than one surgical procedure (70%) is needed. It can be detected even years after Cataract surgery (range 0.3–94 months), so long-term careful follow-up is necessary.

  • Strabismus in infants following Congenital Cataract surgery
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2015
    Co-Authors: Elif Demirkilinc Biler, Duygu Inci Bozbiyik, Onder Uretmen, Suheyla Kose
    Abstract:

    Purpose This study aimed to determine the incidence and characteristics of strabismus following Congenital Cataract surgery in infants. Materials and methods Patients aged

  • strabismus in infants following Congenital Cataract surgery
    Graefes Archive for Clinical and Experimental Ophthalmology, 2015
    Co-Authors: Elif Demirkilinc Biler, Duygu Inci Bozbiyik, Onder Uretmen, Suheyla Kose
    Abstract:

    Purpose This study aimed to determine the incidence and characteristics of strabismus following Congenital Cataract surgery in infants.

Jamie E Craig - One of the best experts on this subject based on the ideXlab platform.

  • The PITX3 gene in posterior polar Congenital Cataract in Australia.
    Molecular vision, 2006
    Co-Authors: Kathryn P Burdon, M G Wirth, David A. Mackey, J Mckay, Isabelle Russell-eggit, Samira Bhatti, Jonathan B Ruddle, David P. Dimasi, Jamie E Craig
    Abstract:

    Purpose: Congenital Cataract is a significant cause of blindness worldwide. Many genes are known to cause the disorder. A large multigenerational pedigree was investigated for the genetic cause of a posterior polar autosomal dominant Congenital Cataract. Methods: A genome wide scan was conducted in a large multigenerational family with autosomal dominant Cataract to identify the linked region of the genome. The PITX3 gene was investigated through direct sequencing and detection of fluorescently labeled PCR products. Results: Linkage was detected to a region of chromosome 10q23-26 which contains the candidate gene PITX3. A segregating 17 bp insertion mutation was identified. This mutation was not identified in 100 additional unrelated sporadic and familial Congenital Cataract patients. No mutations of the PITX3 gene were identified in 9 families with posterior polar Congenital Cataract. Conclusions: The 657ins17bp duplication of the PITX3 gene is the cause of the Cataract phenotype in the large pedigree, however, this gene appears responsible for only a small proportion of Congenital Cataract in Australia.

  • the telomere of human chromosome 1p contains at least two independent autosomal dominant Congenital Cataract genes
    British Journal of Ophthalmology, 2005
    Co-Authors: James D Mckay, Briony Patterson, Isabelle Russelleggitt, Amy C Cohn, M G Wirth, Alex W Hewitt, Jamie E Craig, Kathryn P Burdon, Yves Kerdraon, David A. Mackey
    Abstract:

    Aims: Multiple genetic causes of Congenital Cataract have been identified, both as a component of syndromes and in families that present with isolated Congenital Cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total Congenital Cataract. Methods: Microsatellite markers located across all known autosomal dominant Congenital Cataract loci were genotyped in all recruited family members of the Tasmanian family. Both two point and multipoint linkage analysis were used to assess each locus under an autosomal dominant model. Results: Significant linkage was detected at the telomere of the p arm of chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum multipoint exact LOD of 5.44, and an estimated location score of 5.61 at marker D1S507. Haplotype analysis places the gene inside a critical region between D1S228 and D1S199, a distance of approximately 6 megabases. The candidate gene PAX7 residing within the critical interval was excluded by direct sequencing in affected individuals. Conclusion: This is the third report of Congenital Cataract linkage to 1ptel. The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann Cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant Congenital Cataract map to the telomeric region of chromosome 1p.

Jin Yang - One of the best experts on this subject based on the ideXlab platform.

Onder Uretmen - One of the best experts on this subject based on the ideXlab platform.

  • Treatment results in aphakic patients with glaucoma following Congenital Cataract surgery
    International Ophthalmology, 2019
    Co-Authors: Mine Baris, Elif Demirkilinc Biler, Onder Uretmen, Suzan Guven Yilmaz, Halil Ates, Suheyla Kose
    Abstract:

    Purpose To evaluate the clinical findings and possible risk factors of patients with aphakic glaucoma following Congenital Cataract surgery and identify the factors affecting response to glaucoma treatment. Methods A retrospective chart review of 173 patients was performed who underwent Congenital Cataract surgery before the age of 12 months and 40 eyes of 25 patients with aphakic glaucoma were enrolled. Age of the patients at the time of the Cataract surgery, postoperative complications, additional ocular pathologies and the type of glaucoma treatment needed were investigated. Results Mean age of 25 patients at the time of Cataract surgery was 3.31 ± 2.28 (range 1–11) months with a mean follow-up period of 79 ± 30.5 (32–176) months. Out of 40 eyes, medical therapy was effective in 20 (50%) eyes, whereas 20 (50%) eyes needed surgery for glaucoma. In these 20 eyes, 6 (30%) eyes underwent only 1, 4 (20%) eyes underwent 2 and 10 (50%) eyes underwent 3 or more procedures. Age at the time of Cataract surgery, pupillary membrane formation and additional ocular pathologies were not significantly associated both with the need for glaucoma surgery or the number of operations ( p  ≥ 0.05). Conclusion Aphakic glaucoma following Congenital Cataract surgery is a serious complication which requires surgery in half (50%) of the patients. Usually, more than one surgical procedure (70%) is needed. It can be detected even years after Cataract surgery (range 0.3–94 months), so long-term careful follow-up is necessary.

  • Strabismus in infants following Congenital Cataract surgery
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2015
    Co-Authors: Elif Demirkilinc Biler, Duygu Inci Bozbiyik, Onder Uretmen, Suheyla Kose
    Abstract:

    Purpose This study aimed to determine the incidence and characteristics of strabismus following Congenital Cataract surgery in infants. Materials and methods Patients aged

  • strabismus in infants following Congenital Cataract surgery
    Graefes Archive for Clinical and Experimental Ophthalmology, 2015
    Co-Authors: Elif Demirkilinc Biler, Duygu Inci Bozbiyik, Onder Uretmen, Suheyla Kose
    Abstract:

    Purpose This study aimed to determine the incidence and characteristics of strabismus following Congenital Cataract surgery in infants.

M G Wirth - One of the best experts on this subject based on the ideXlab platform.

  • The PITX3 gene in posterior polar Congenital Cataract in Australia.
    Molecular vision, 2006
    Co-Authors: Kathryn P Burdon, M G Wirth, David A. Mackey, J Mckay, Isabelle Russell-eggit, Samira Bhatti, Jonathan B Ruddle, David P. Dimasi, Jamie E Craig
    Abstract:

    Purpose: Congenital Cataract is a significant cause of blindness worldwide. Many genes are known to cause the disorder. A large multigenerational pedigree was investigated for the genetic cause of a posterior polar autosomal dominant Congenital Cataract. Methods: A genome wide scan was conducted in a large multigenerational family with autosomal dominant Cataract to identify the linked region of the genome. The PITX3 gene was investigated through direct sequencing and detection of fluorescently labeled PCR products. Results: Linkage was detected to a region of chromosome 10q23-26 which contains the candidate gene PITX3. A segregating 17 bp insertion mutation was identified. This mutation was not identified in 100 additional unrelated sporadic and familial Congenital Cataract patients. No mutations of the PITX3 gene were identified in 9 families with posterior polar Congenital Cataract. Conclusions: The 657ins17bp duplication of the PITX3 gene is the cause of the Cataract phenotype in the large pedigree, however, this gene appears responsible for only a small proportion of Congenital Cataract in Australia.

  • the telomere of human chromosome 1p contains at least two independent autosomal dominant Congenital Cataract genes
    British Journal of Ophthalmology, 2005
    Co-Authors: James D Mckay, Briony Patterson, Isabelle Russelleggitt, Amy C Cohn, M G Wirth, Alex W Hewitt, Jamie E Craig, Kathryn P Burdon, Yves Kerdraon, David A. Mackey
    Abstract:

    Aims: Multiple genetic causes of Congenital Cataract have been identified, both as a component of syndromes and in families that present with isolated Congenital Cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total Congenital Cataract. Methods: Microsatellite markers located across all known autosomal dominant Congenital Cataract loci were genotyped in all recruited family members of the Tasmanian family. Both two point and multipoint linkage analysis were used to assess each locus under an autosomal dominant model. Results: Significant linkage was detected at the telomere of the p arm of chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum multipoint exact LOD of 5.44, and an estimated location score of 5.61 at marker D1S507. Haplotype analysis places the gene inside a critical region between D1S228 and D1S199, a distance of approximately 6 megabases. The candidate gene PAX7 residing within the critical interval was excluded by direct sequencing in affected individuals. Conclusion: This is the third report of Congenital Cataract linkage to 1ptel. The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann Cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant Congenital Cataract map to the telomeric region of chromosome 1p.