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Prenatal diagnosis for isolated aniridia: A case report and simplified diagnostic approach for ophthalmologists

Approximately 60%–90% of the isolated aniridia (IA) in India is reported to be sporadic (simplex) in nature, with much lesser contribution by autosomal dominant inheritance. The Indian genomic profile for IA indicates the commonest mutations to be single nucleotide variations in PAX6, whereas copy number variants, especially deletions, are rare. Deletions involving PAX6 along with another gene are even rarer. Our paper highlights an unreported Indian scenario of prenatal genetic counseling for sporadic IA due to PAX6 and ELP4 exon deletions and expands the mutation spectrum associated with IA in India.