Dr. Nilutparna Deori

Dr.Harsha Bhattacharjee

Abstract

In this study, we analyse the mutations and systemic associations of ocular disorders of childhood in a cohort of 6 patients and establish a definitive diagnosis on the basis of molecular genetics and clinical characteristics. Whole exome sequencing was performed to determine the disease causing variants.In our cohort of 6 patients, one child had Ehler Danlos Syndrome, Kyphoscoliotic type 1 with a recessive(homozygous) frameshift deletion at exon 12 of PLOD1 gene, another child with Fundus Albipunctatus had a homozygous nonsense variation in exon 4 of RDH5 gene. 3 patients with Isolated cryptophthalmos had missense mutation at exon 9 of FREM2 gene. A child with Alstrom Syndrome had a compound heterozygous frameshift insertion at exon 8 and stop gain mutation at exon 16 of ALMS1 gene.Our findings justify the need to expand our horizon in understanding the role of genetic testing and defining its applicability in diagnostic precision of complex ocular disorders of childhood.

Full Text