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Year : 2021  |  Volume : 3  |  Issue : 1  |  Page : 10

Chromosomal microarray in isolated congenital and developmental cataract

1 Moorfields Eye Hospital; UCL Institute of Ophthalmology, University College London, London, United Kingdom
2 Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA
3 Department of Ophthalmology, Queen Sirikit National Institute of Child Health, Bangkok, Thailand
4 Department of Ophthalmology and Visual Sciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila; Pediatric Ophthalmology and Strabismus and Ocular Genetics, Asian Eye Institute, Makati City, Philippines
5 Department of Ophthalmology, Faculty of Medicine, Ramathibodi Hospital, Bangkok, Thailand
6 Department of Ophthalmology, Kaohsiung Medical University Hospital; Department of Ophthalmology, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
7 Molecular Pathology Laboratory, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
8 Facultad De Medicina Clínica Alemana, Universidad Del Desarrollo, Santiago, Chile
9 Department of Vitreoretinal Services, Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India
10 Department of Pathology and Laboratory Medicine, St. Christopher's Hospital for Children, Philadelphia, Pennsylvania, USA
11 Department of Pathology, Anatomy and Cell Biology at Thomas Jefferson University, Philadelphia, Pennsylvania, USA
12 Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute; Rochester, New York, USA

Correspondence Address:
Dr. Alex V Levin
Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Rochester, NY 14642, New York
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/pajo.pajo_63_20

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Introduction: The etiologies of congenital and developmental cataracts are diverse. Most are not syndromic and have no identifiable cause, thus creating a diagnostic dilemma. We investigated the utility of chromosomal microarray in identifying the etiology of isolated childhood cataracts. Methods: Patients with congenital or developmental cataracts without other associated abnormalities received a single-nucleotide polymorphism (SNP) microarray. copy number variations (CNV) and regions of homozygosity (ROH) were compared with previous literature reports and analyzed for candidate genes to assess pathogenicity. Results: We enrolled 37 patients. The mean age of the patient population was 10.98 years old. Nineteen patients (51.4%) had bilateral cataract. Positive family history was found in 11 patients (29.7%). Eighteen patients (48.7%) had a variant on microarray: 10 (27%) with CNV, 5 (13.5%) with ROH, and 3 patients (8.1%) with both CNV and homozygosity. In five patients (13.5%), we found a potentially causative cataract gene within an ROH. Discussion: There is a high rate of notable findings among the CNV and ROH detected. Three patients were homozygous in a region known to have a cataract gene suggesting a possible autosomal recessive disease. In those with CNV, segregation would help to affirm the pathogenicity of these regions and may lead to the identification of new genes. Conclusion: SNP microarray had a surprisingly high rate of notable findings in patients with isolated cataract and may reveal the opportunities for genetic counseling, lead to discovering new cataract genes and identify additional affected genes that could lead to other clinical abnormalities.

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