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5 Results Found

  • Case Report
  • Open Access
23 Citations
4,728 Views
7 Pages

Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma

  • Osamah Saeedi,
  • Sairah Yousaf,
  • Joby Tsai,
  • Kathleen Palmer and ,
  • Saima Riazuddin and
  • Zubair M. Ahmed
  • + 1 author+ 0 author

30 October 2018

Juvenile open angle glaucoma (JOAG), which is an uncommon form of primary open angle glaucoma, is a clinically and genetically heterogeneous disorder. We report on a family with a recessively inherited form of JOAG. The proband has a superior and an...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
1 Citations
3,589 Views
9 Pages

28 September 2024

Background/Objectives: Juvenile Open Angle Glaucoma (JOAG) is a condition that presents peculiar issues because it starts at a very early age and, in the end, causes substantial vision loss. This study aimed to analyze the age and gender distribution...

(This article belongs to the Section Ophthalmology)
  • Review
  • Open Access
13 Citations
6,659 Views
17 Pages

9 April 2024

Childhood glaucoma, a significant cause of global blindness, represents a heterogeneous group of disorders categorized into primary or secondary forms. Primary childhood glaucoma stands as the most prevalent subtype, comprising primary congenital gla...

(This article belongs to the Special Issue Pediatric Eye Disease: Screening, Causes and Treatment)
  • Review
  • Open Access
1,272 Views
17 Pages

Genetic Risk Factors and Clinical Implications of Glaucoma in the Saudi Population: A Review

  • Abdullah Faisal Alotaibi,
  • Lojain Mohammed A. Maawadh,
  • Mohammed Naji Obaid Almutairi,
  • Syed Hameed and ,
  • Rizwan Malik and
  • Khaled K. Abu-Amero
  • + 1 author+ 0 author

Most glaucoma genetic data derive from European and East Asian cohorts, leaving high-consanguinity Middle Eastern populations under-characterized. This review synthesizes 33 Saudi-specific genetic studies (2014–2024, >9000 participants) to d...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Review
  • Open Access
27 Citations
13,441 Views
20 Pages

Keeping an Eye on Myocilin: A Complex Molecule Associated with Primary Open-Angle Glaucoma Susceptibility

  • Farid Menaa,
  • Carolina Ayumi Braghini,
  • Jose Paulo Cabral De Vasconcellos,
  • Bouzid Menaa and ,
  • Vital Paulino Costa,
  • Eugênio Santana De Figueiredo and
  • Monica Barbosa De Melo
  • + 2 authors+ 0 author

27 June 2011

MYOC encodes a secretary glycoprotein of 504 amino acids named myocilin. MYOC is the first gene to be linked to juvenile open-angle glaucoma (JOAG) and some forms of adult-onset primary open-angle glaucoma (POAG). The gene was identified as an up-reg...

(This article belongs to the Section Molecular Diversity)