Genes and Diseases

Diagnoses eligible for inclusion Genes that may be considered for testing
Achromatopsia CNGA3, CNGB3
Albinism Recessive TYR, OCA2, TYRP1, SLC45A2
X-linked GPR143 (OA1)
Aniridia and other developmental eye anomalies PAX6, WT1#, DCDC1#, ELP4# (# del/dup testing only)
Axenfeld – Rieger Syndrome FOXC1, PITX2
Best Disease BEST1
Bietti’s Crystalline Corneo-Retinal Dystrophy CYP4V2
Choroideremia CHM
Chronic Progressive External Ophthalmoplegia (CPEO) POLG, mtDNA deletions^ (^ tested as part of a mitochondrial panel that covers different mitochondrial conditions or susceptibility to disease. Participants should be made aware of the potential for incidental findings with this test. Please refer to the test pamphlet for additional information about the conditions that might be detected with this test.
Cone Rod Dystrophy ABCA4, RPGR, CRX,
GUCY2D (codon R838)
Congenital Cranial Dysinnervation Diseases (CCDD) KIF21A, CHN1, SALL4, TUBB3, HOXA1, PHO2A, ROBO3, HOXB1
X-linked Congenital Nystagmus FRMD7 (only tested in the presence of a family history of the condition)
Congenital Stationary Night Blindness/Oguchi Disease GPR179, RHO, NYX, TRPM1, SAG
Corneal Dystrophy TGFBI, KRT3, KRT12
Doyne Honeycomb Dystrophy EFEMP1
Familial Exudative Vitreal Retinopathy FZD4, LRP5, NDP, TSPAN12
Fundus Albipunctatus/Bothnia Retinal Dystrophy RDH5, RLBP1
Glaucoma (juvenile open angle and congenital only) CYP1B1, OPTN, MYOC
Hermansky-Pudlak Syndrome HPS1 and HPS3*
Juvenile X-linked Retinoschisis RS1
Leber Hereditary Optic Neuropathy (LHON) LHON will be tested as part of a mitochondrial panel that covers not only LHON but also different mitochondrial conditions or susceptibility to disease. Participants should be made aware of the potential for incidental findings with this test. Please refer to the test pamphlet for additional information about the conditions that might be detected with this test.
Lowe Syndrome OCRL
Microphthalmia and Anophthalmia RAX, SOX2, OTX2, VSX2, STRA6 and SIX6del/dup analysis
Neurodegeneration with Brain Iron Accumulation (NBIA) FA2H, MMIN, PANK2, PLA2G6
Occult Macular Dystrophy RP1L1 (R45W)
Optic Atrophy, Dominant OPA1, OPA3
Papillo-renal Syndrome PAX2
Pattern Dystrophy PRPH2
Retinitis Pigmentosa (RP) and Retinal Degenerations Dominant (panel** including RHO, PRPH2, RP1, IMPDH1, PRPF8, NR2E3, PRPF3, TOPORS, PRPF31, RP1, KLHL7, SNRNP200), CA4, CRB1, CTRP5
X-linked RPGR, RP2
Recessive: single genes available on as needed basis — please inquire with CC
Retinoblastoma RB1
Sorsby Fundus Dystrophy TIMP3
Stargardt Disease ABCA4, ELOVL4, PRPH2
Stickler Syndrome COL2A1
Usher Syndrome Usher panel** (CDH23, CLRN1, DFNB31 (WHRN), GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A)

*In individuals of Puerto Rican descent — test screens for a 16 bp duplication in HPS1 and a 3.9 kb deletion in HPS3.  Ashkenazi Jewish individuals will be tested for IVS5 splice site mutations in HPS3 only. HPS samples from individuals outside of these categories will not be tested at this time.

**not all genes sequenced in full and not all are available outside of panel.

Genetic tests ordered are determined by the eyeGENE® Working Group after review of the clinical data submitted by the referring clinician.

Sporadic/isolated and recessive retinitis pigmentosa and sporadic/isolated and recessive Cone-Rod Dystrophy
At the present time, patient samples will be collected and stored in the eyeGENE® repository and NOT CLIA-tested. Although some tests are available, careful systematic diagnostic assays are cost prohibitive to the eyeGENE® Network at this time. These stored samples will be CLIA-tested once new CLIA-approved diagnostic technology is available through the eyeGENE® Network. Potential results may become available through research screening. Individual level genetic results from research will be confirmed in a CLIA-approved diagnostic laboratory before being communicated.

Last Reviewed: 
January 2015