Abstract Title
Genetic Profile of Anterior Segment Development Anomalies in Asian Indian Population
Introduction & Objectives
Anterior Segment Developmental Anomalies (ASDA) encompass disorders affecting the eye's anterior segment, presenting with corneal opacities in infancy .Genetic testing improves diagnosis accuracy ,prognosis and mechanism-specific care.
ASDA shows genotypic and phenotypic heterogeneity, with limited data on mutation spectra and genotype-phenotype correlation in the Asian-Indian population. This study aimed to investigate molecular genetic patterns in ASDA with primary corneal involvement and evaluate genotype-phenotype characteristics in the Asian-Indian population.
Methods
A case-control study included 29 ASDA patients (≤14 years) with primary corneal opacity and 29 healthy controls. Parameters included demographics, clinical history, visual acuity, comprehensive ophthalmic examination, intraocular pressure, axial length, imaging (UBM, ultrasonography, i-OCT), flash VER and targeted gene sequencing. Genotype-phenotype correlation analyzed clinical characteristics such as axial length, corneal diameter, corneal opacity, KID, KILD, posterior segment anomalies and systemic anomalies.
Results
Among 29 ASDA cases (mean age 9.52 ± 13.8 months; males 15, females 14), 68.9% had bilateral presentation. Genetic mutations were found in 19 patients( 65.5%).Predominant phenotypes included microphthalmos, microcornea, glaucoma, posterior segment anomalies, systemic anomalies, KID, aniridia, congenital aphakia and anomalous limbus. Mutations included FOXC1, FOXE3, CYP1B1, TENM3, PXDN, HCCS, OTX2, FGFR2, LRP5, VSX1, chr4g deletion, RDH11, SLC16A12, B3GLCT. Syndromic associations and posterior segment anomalies were linked to specific mutations.
Conclusion
This study identified diverse mutations associated with ASDA and their varied genotype-phenotype correlations, highlighting uncommon mutations like TENM3, PXDN, HCCS, OTX2, LRP5, VSX1, chr4g deletion, and SLC16A12 as causative. Syndromic manifestations and posterior segment anomalies were associated with specific mutations, emphasizing the importance of comprehensive evaluation in ASDA patients.
Keyword
ASDA, Genetic mutation, Genotype-phenotype correlation