Eye Disorders | GeneDx

ExonArrayDx

GeneDx now offers a novel test for deletion/duplication testing of clinically significant genes that play a role in disorders resulting from loss of function or haploinsufficiency. This test, called ExonArrayDx, employs DNA microarray-based array CGH to detect deletions or duplications of one or more exons within target genes.

Retinal Dystrophies
Retinitis Pigmentosa Autosomal Recessive Retinitis Pigmentosa (arRP) / Sporadic Retinitis Pigmentosa Panel (7 genes) - USH2A, EYS, ABCA4, RPE65, PDE6A, PDE6B, and CRB1 Autosomal Dominant Retinitis Pigmentosa (adRP) - RHO, PRPH2, IMPDH1, RP1, PRPF8, PRPF31 and PRPF3, CRX and and BEST1 (VMD2) X-linked Retinitis Pigmentosa (XLRP) - RP2	*
Choroideremia - CHM	*
X-linked Juvenile Retinoschisis - XLRS1
Stargardt Disease / Fundus Flavimaculatus - ABCA4
Cone-rod dystrophy Autosomal Recessive Cone-rod dystrophy - ABCA4 Autosomal Dominant Cone-rod dystrophy - PRPH2, CRX
Leber congenital amaurosis Autosomal Recessive Leber Congenital Amaurosis - RPE65, CRB1, GUCY2D, AIPL1, CEP290 Autosomal Dominant Leber Congenital Amaurosis - CRX, IMPDH1
Macular dystrophy Autosomal Recessive Macular Dystrophy - ABCA4 Autosomal Dominant Macular Dystrophy - PRPH2
Familial Exudative Vitreoretinopathy – FZD4 and LRP5

Developmental Eye Disorder
Aniridia - PAX6	**
OculoFacioCardioDental Syndrome (OFCD) / Lenz Microphthalmia Syndrome (LMS) - BCOR
Microphthalmia and/or Anophthalmia - SOX2, VSX2, OTX2 and PAX6
Axenfeld-Rieger Syndrome - PITX2, FOXC1 and PAX6
Other Developmental Eye Disorders - PAX6

Glaucoma
Primary congenital glaucoma (PCG), primary open angle glaucoma (POAG) and juvenile open angle glaucoma (JOAG) –CYP1B1, MYOC, and OPTN

*Pictures courtesy of " Webvision: The Organization of the Retina and Visual System Kolb, Helga; Fernandez, Eduardo; Nelson, Ralph, editors Bethesda (MD): National Library of Medicine (US), NCBI; 2007
**Reproduced with permission of Dr. Ian M. Macdonald (Royal Alexandra Hospital, Edmonton, Canada)