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Home » National Eye Disease Genotyping Network (eyeGENETM) » National Ophthalmic Disease Genotyping Network (eyeGENETM)

National Ophthalmic Disease Genotyping Network (eyeGENETM)

Genes and Diseases Currently Being Tested by the eyeGENETM Network

S. No

Disease

Genes
1 Aniridia PAX6
2 Axenfeld - Rieger Syndrome PITX2, FOXC1
3 Best Disease VMD2*
4 Congenital Cranial Dysinnervation Diseases (CCDD) KIF21A, PHOX2A, SALL4, ROBO3, HOXA1
5 Choroideremia CHM*
6 Cone Rod Dystrophy ABCA4*, RPGR
7 Congenital Stationary Night Blindness NYX*, RHO, PDE6B*
8 Corneal Anterior Stromal Dystrophies BIGH3*
9 Meesman's Epithelial Dystrophy KRT3,KRT12
10 Bietti's Crystalline Corneal-Retinal Dystrophy CYP4V2*
11 Doyne Honeycomb Dystrophy EFEMP1*
12 Familial Exudative Vitreal Retinopathy FZD4, LRP5, NDP
13 Glaucoma CYP1B1, OPTN, MYOC
14 Optic Atrophy OPA1
15 Pattern Dystrophy RDS
16 Pantothenate Kinase-associated Neuropathy (PKAN) PANK2
17 Juvenile X-linked Retinoschisis XLRS1*
18 Retinitis Pigmentosa (RP) and Retinal Degenerations ABCA4*, RHO, IMPDH1, RP1, PRPF31, RPGR, CNGA1*, CRB1*, C1QTNF5/ CTRP5*, MERTK*, PDE6A*, PDE6B*, RGR*, RLBP1*, RPE65*, TULP1*, CA4, RP2
19 Sorsby Fundus Dystrophy TIMP3*
20 Stargardt Disease ELOVL4, ABCA4*

Special Cases:

X-linked conditions
Symptomatic carrier females will be enrolled in the eyeGENETM study once a mutation has been identified in an affected male relative.

X-linked retinitis pigmentosa (XLRP)
The first tier of molecular diagnosis for XLRP consists in sequencing the ORF15 of the RPGR-ORF15 gene. The second tier consists in sequencing exons 1 through 14 of the RPGR gene. The third tier consists in sequencing the RP2 gene. It has been estimated that RPGR ORF15 exon mutations account for 30 to 60% of XLRP cases and mutations in other RPGR exons account for 11 to 26% of XLRP cases. Mutations in the RP2 gene are observed in 7 to 20% of XLRP cases.

Sporadic isolated retinitis pigmentosa
Patient samples will first be stored then processed once a re-sequencing retinal array is ready. It is estimated that such array will become available by Fall 2008.

Autosomal dominant Cone-Rod Dystrophy
Patient samples will first be stored then processed once the CRX gene is available for testing.

Isolated Cone-Rod Dystrophy
Patient samples will first be stored then processed once causative genes are available for testing.

* Due to the relocation of several Network laboratories, there will be a delay in the turnaround of molecular diagnostic results for the labeled genes. The delay may be as long as 6 months.

This page was last modified in April 2008