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
Achromatopsia - CNGB3, CNGA3
BEST 1 related disorders Best vitelliform macular dystrophy (Best disease); Bestrophinopathy, autosomal recessive; Vitreoretinochoroidopathy, autosomal dominant; Foveomacular vitelliform dystrophy, adult-onset - BEST1 (VMD2)
Bothnia Retinal Dystrophy - RLBP1
Choroideremia - CHM	*
Cone-rod dystrophy Autosomal Recessive Cone-rod dystrophy - ABCA4, CNGB3, CNGA3 and CERKL Autosomal Dominant Cone-rod dystrophy - CRX, RDS, AIPL1, GUCY2D (exon 13), GUCA1A
Congenital Stationary Night Blindness X-Linked Congenital Stationary Night Blindness - NYX Autosomal Recessive Congenital Stationary Night Blindness - TRPM1, SAG, RDH5
Familial Exudative Vitreoretinopathy – FZD4, LRP5, TSPAN12 and NDP
Fundus Albipunctatus – RDH5, RLBP1
Leber congenital amaurosis Autosomal Recessive Leber Congenital Amaurosis - RPE65, CRB1, GUCY2D, AIPL1, CEP290, RPGRIP1 Autosomal Dominant Leber Congenital Amaurosis - CRX, IMPDH1
Macular dystrophy Autosomal Recessive Macular Dystrophy - ABCA4 Autosomal Dominant Macular Dystrophy - PRPH2 Autosomal Dominant Stargardt-Like Macular Dystrophy - ELOVL4
Newfoundland Rod-Cone Dystrophy - RLBP1
Norrie Disease - NDP
Retinitis Pigmentosa Autosomal Recessive Retinitis Pigmentosa (arRP) / Sporadic Retinitis Pigmentosa Panel (8 genes) - USH2A, EYS, ABCA4, RPE65, PDE6A, PDE6B, CRB1, CNGA1 and CERKL Autosomal Dominant Retinitis Pigmentosa (adRP) - RHO, PRPH2, IMPDH1, RP1, PRPF8, PRPF31 and PRPF3, CRX and BEST1 (VMD2) X-linked Retinitis Pigmentosa (XLRP) - RP2	*
Retinitis Punctata Albescens - RLBP1
Stargardt, Stargardt Like Disease and Macular Dystrophy - ABCA4, RDS, ELOVL4
X-linked Juvenile Retinoschisis - XLRS1

Developmental Eye Disorder
Aniridia - PAX6 Deletion/duplication analysis of the PAX6 gene also includes neighboring DCDC1, ELP4 and WT1 genes	**
Axenfeld-Rieger Syndrome - PITX2, FOXC1 and PAX6
Microphthalmia and/or Anophthalmia - SOX2, VSX2, OTX2, STRA6, PAX6 and RAX
OculoFacioCardioDental Syndrome (OFCD) / Lenz Microphthalmia Syndrome (LMS) - BCOR
Other Developmental Eye Disorders - PAX6
Septo-Optic Dysplasia - HESX1
X-linked Congenital Nystagmus - FRMD7

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)