Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results

Table 3 Classes of variants unidentified by WES

	Gene Mutation	Summary of Underlying Reason	Follow-up Analysis
Structural Variations	RPGR ORF15 variants	High GA % regions	Targeted gene sequencing
	MAK 353-bp Alu insertion	Platform	Retinal dystrophy gene panel plus or targeted gene sequencing using the ABI sequencer
	EYS exonic deletions	CNV	Array CGH of IRD genes
	PRPF31 exonic deletion	CNV	Retinal dystrophy Xpanded gene panel
Deep Intronic Variations	ABCA4 c.4539 + 2085G > A	Past immediate introns	IRD gene panel
	ABCA4 c.2160 + 584A > G	Past immediate introns	Targeted gene sequencing
	GUCY2D c.1378 + 151C > G	Past immediate introns	WGS

CNV copy number variation; CGH comparative gene hybridization; IRD inherited retinal disease; WGS whole genome sequencing

ISSN: 1750-1172