Ophthalmology

Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.

All the tests on this page fall into a single clinical area. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

1 gene

Invitae Aniridia Test

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Genetic testing for PAX 6, the primary gene associated with aniridia and Gillespie syndrome.

GENES TESTED:

PAX6

up to 3 genes

Invitae Axenfeld-Rieger Panel

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Genetic testing of the FOXC1 and PITX2 genes, which are associated with Axenfeld-Rieger syndrome (ARS).

GENES TESTED:

Primary Panel:
FOXC1 PITX2

Add-on Aniridia Gene:
PAX6

Aniridia may be diagnosed as severe iris hypoplasia associated with ARS. The PAX6 gene can be included for testing at no additional charge.

16 genes

Invitae Bardet-Biedl Syndrome Panel

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Genetic testing for 16 genes associated with Bardet-Biedl syndrome (BBS), a condition characterized by truncal obesity, cognitive impairment, rod-cone dystrophy and renal abnormalities.

GENES TESTED:

ARL6 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CEP290 MKKS MKS1 SDCCAG8 TRIM32 TTC8 WDPCP

1 gene

Invitae CHARGE Syndrome Test

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Genetic testing for CHD7, the gene associated with CHARGE syndrome. CHARGE syndrome is characterized by coloboma, heart defect, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies.

GENES TESTED:

CHD7

1 gene

Invitae Choroideremia Test

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Genetic testing for the CHM gene which is associated with choroideremia, a condition that is characterized by chorioretinal degeneration.

GENES TESTED:

CHM

up to 38 genes

Invitae Congenital Cataracts Panel

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Genetic testing for up to 38 genes that are associated with the development of congenital and early-onset cataracts.

GENES TESTED:

Primary Panel:
AGK BCOR BFSP1 BFSP2 CRYAA CRYAB CRYBA1 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGC CRYGD CRYGS CTDP1 EPHA2 FAM126A FOXC1 FYCO1 GALK1 GCNT2 GJA3 GJA8 HSF4 MAF MIP NHS OCRL PAX6 PITX2 PITX3 SIL1 TDRD7 VSX2

Add-on Preliminary-evidence Genes for Congenital Cataracts:
CHMP4B CRYGB LIM2 VIM

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

1 gene

Invitae Duane-Radial Ray Syndrome Test

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Genetic testing for SALL4, which is associated with Duane-Radial Ray syndrome (DRRS), a condition that is characterized by acro-renal-ocular anomalies.

GENES TESTED:

SALL4

3 genes

Invitae Early-Onset Glaucoma Panel

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Genetic testing for CYP1B1, which is associated with primary congenital glaucoma, as well as for FOXC1 and PITX2, which are associated with Axenfeld-Rieger syndrome (ARS). Early-onset glaucoma is a common finding of ARS.

GENES TESTED:

CYP1B1 FOXC1 PITX2

up to 21 genes

Invitae Leber Congenital Amaurosis Panel

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Genetic testing for up to 21 genes that are associated with Leber congenital amaurosis (LCA), which is characterized by blindness or severe vision loss typically presenting in infancy.

GENES TESTED:

Primary Panel:
AIPL1 CEP290 CRB1 CRX GDF6 GUCY2D IQCB1 KCNJ13 LCA5 LRAT NMNAT1 OTX2 PRPH2 RD3 RDH12 RPE65 RPGRIP1 SPATA7 TULP1

Add-on Preliminary-evidence Genes for Leber Congenital Amaurosis:
BBS4 IMPDH1

In addition to the primary panel, clinicians can also choose to include two genes that have preliminary evidence of association with Leber congenital amaurosis. At this time, the association of these two genes with Leber congenital amaurosis remains uncertain. However, some clinicians may wish to include genes that may prove to be clinically significant in the future. Visit our Preliminary-evidence genes page to learn more. These genes can be added at no additional charge.

up to 21 genes

Invitae Microphthalmia/Anophthalmia Disorders Panel

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Genetic testing for up to 21 genes associated with microphthalmia and/or anophthalmia, which is characterized by an absent or abnormally small eye with a short axial length.

GENES TESTED:

Primary Panel:
ALDH1A3 BCOR BMP4 FOXE3 GDF6 MAB21L2 MFRP OTX2 PAX2 PRSS56 PXDN RARB RAX SHH SOX2 STRA6 VSX2

Add-on Preliminary-evidence Genes for Microphthalmia/Anophthalmia Disorders:
GDF3 HESX1 SALL4 VAX1

In addition to the primary panel, clinicians can also choose to include three genes that have preliminary evidence of association with microphthalmia/anophthalmia. At this time, the association of these five genes with microphthalmia/anophthalmia remains uncertain. However, some clinicians may wish to include genes that may prove to be clinically significant in the future. Visit our Preliminary-evidence genes page to learn more.

1 gene

Invitae Oculo-Facio-Cardio-Dental Syndrome Test

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Genetic testing for BCOR, the primary gene associated with oculo-facio-cardio-dental (OFCD) syndrome and Lenz microphthalmia (LMS).

GENES TESTED:

BCOR

1 gene

Invitae Retinoblastoma Test

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Genetic testing of the RB1 gene for hereditary retinoblastoma; other cancer risks include pinealoma, osteosarcoma, soft tissue sarcomas, and melanoma.

GENES TESTED:

RB1

8 genes

Invitae Senior-Loken Syndrome Panel

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Genetic testing for eight genes associated with Senior-Loken syndrome (SLSN), a condition characterized by a combination of childhood retinal and renal disease. Developmental delay may also be associated.

GENES TESTED:

CEP290 INVS IQCB1 NPHP1 NPHP3 NPHP4 SDCCAG8 WDR19

Gene
A
AGK
Synonym(s): CATC5; CTRCT38; MTDPS10; MULK

The AGK gene is associated with autosomal recessive Sengers syndrome (MedGen UID:395228). Additionally, the AGK gene has limited evidence supporting a correlation with autosomal recessive non syndromic congenital cataracts (PMID: 22415731)

AIPL1
Synonym(s): AIPL2; LCA4

The AIPL1 gene is associated with autosomal recessive Leber congenital amaurosis 4 (LCA4) (MedGen UID: 346808). Additionally, the AIPL1 gene has preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 20702822, 21474771) and cone-rod dystrophy (PMID: 26103963, 10873396).

ALDH1A3
Synonym(s): ALDH1A6; ALDH6; MCOP8; RALDH3

The ALDH1A3 gene is associated with autosomal recessive isolated microphthalmia-8 (MCOP8) (MedGen UID: 767438).

ARL6
Synonym(s): BBS3; RP55

The ARL6 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and retinitis pigmentosa (MedGen UID: 20551).

B
BBS1
Synonym(s): BBS2L2

The BBS1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422452).

BBS10
Synonym(s): C12orf58

The BBS10 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347909).

BBS12
Synonym(s): C4orf24

The BBS12 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347910).

BBS2
Synonym(s): BBS; RP74

The BBS2 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422453).

BBS4

The BBS4 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019). Additionally, the BBS4 gene has preliminary evidence supporting a correlation with autosomal recessive Leber congenital amaurosis (LCA) (PMID: 22219648).

BBS5

The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 431047).

BBS7
Synonym(s): BBS2L1

The BBS7 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347180).

BBS9
Synonym(s): B1; C18; D1; PTHB1

The BBS9 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347182).

BCOR
Synonym(s): ANOP2; MAA2; MCOPS2

The BCOR gene is associated with X-linked dominant oculofaciocardiodental (OFCD) syndrome (MedGen UID: 337547). Additionally, the BCOR gene has preliminary evidence supporting a correlation with X-linked recessive Lenz microphthalmia syndrome (PubMed: 26694549).

BFSP1
Synonym(s): CP115; CP94; CTRCT33; LIFL-H

The BFSP1 gene is associated with autosomal dominant congenital cataracts (PMID: 24379646) and autosomal recessive congenital cataracts (MedGen UID: 370714).

BFSP2
Synonym(s): CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN

The BFSP2 gene is associated with autosmal recessive congenital cataracts (PMID: 21836522, 22935719).

BMP4
Synonym(s): BMP2B; BMP2B1; MCOPS6; OFC11; ZYME

The BMP4 gene is associated with autosomal dominant microphthalmia 6 (MCOPS6) (MedGen UID: 468558). Additionally, the BMP4 gene has preliminary evidence supporting a correlation with autosomal dominant orofacial clefting (PMID: 19249007, 21340693).

C
CEP290
Synonym(s): 3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4; NPHP6; POC3; rd16; SLSN6

The CEP290 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 346672), Joubert syndrome (MedGen UID: 347545) and Bardet-Biedl syndrome (MedGen UID: 393033).

CHD7
Synonym(s): CRG; HH5; IS3; KAL5

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 102469).

CHM
Synonym(s): A1L4D2; AK299323; DXS540; GGTA; HSD-32; O43732; P24386; Rab Escort Protein 1; Rab Geranylgeranyltransferase Component A; Rab Proteins Geranylgeranyltransferase Component A 1; RAE1_HUMAN; REP-1; REP1; TCD

The CHM gene is associated with X-linked choroideremia (MedGen UID: 944).

CHMP4B
Synonym(s): C20orf178; CHMP4A; CTPP3; CTRCT31; dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B

The CHMP4B gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant congenital cataracts (PMID:10682967, 10909854).

CRB1
Synonym(s): LCA8; RP12

The CRB1 gene is associated with autosomal recessive Leber congenital amaurosis 8 (MedGen UID: 462552) and retinitis pigmentosa 12 (MedGen UID: 374019).

CRX
Synonym(s): CORD2; CRD; LCA7; OTX3

The CRX gene is associated with autosomal dominant Leber congenital amaurosis 7 (MedGen UID: 462542) and cone-rod dystrophy 2 (MedGen UID: 441877).

CRYAA
Synonym(s): CRYA1; CTRCT9; HSPB4

The CRYAA gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID:347693)

CRYAB
Synonym(s): CMD1II; CRYA2; CTPP2; CTRCT16; HEL-S-101; HSPB5; MFM2

The CRYAB gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 767563) and cataracts (MedGen UID: 462415). It is also associated with autosomal dominant and recessive myofibrillar myopathy 2 (MFM2) (MedGen UID: 324735).

CRYBA1
Synonym(s): CRYB1; CTRCT10

The CRYBA1 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 318817).

CRYBA4
Synonym(s): CTRCT23; CYRBA4; MCOPCT4

The CRYBA4 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 351240). Additionally, the CRYBA4 gene has preliminary evidence supporting a correlation with autosomal recessive cataracts (PMID: 28418495) and autosomal dominant microphthalmia (PMID: 16960806).

CRYBB1
Synonym(s): CATCN3; CTRCT17

The CRYBB1 gene is associated with autosomal dominant congenital cataracts (PMID: 18432316) and autosomal recessive congenital cataracts (MedGen UID: 370592).

CRYBB2
Synonym(s): CCA2; CRYB2; CRYB2A; CTRCT3; D22S665

The CRYBB2 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 321901).

CRYBB3
Synonym(s): CATCN2; CRYB3; CTRCT22

The CRYBB3 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 341862). Additionally, the CRYBB3 gene has preliminary evidence supporting a correlation with autosomal dominant congenital cataracts (PMID: 23508780).

CRYGB
Synonym(s): CRYG2; CTRCT39

The CRYGB gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant congenital cataracts (MedGen UID: 815130).

CRYGC
Synonym(s): CCL; CRYG3; CTRCT2

The CRYGC gene is associated with autosomal dominant congenital cataracts (MedGen UID: 343810).

CRYGD
Synonym(s): CACA; CCA3; CCP; cry-g-D; CRYG4; CTRCT4; PCC

The CRYGD gene is associated with autosomal dominant congenital cataracts (MedGen UID: 348463). Additionally, the CRYGD gene has limited evidence supporting a correlation with congenital cataracts in association with microcornea (CCMC) (PMID: 17724170).

CRYGS
Synonym(s): CRYG8; CTRCT20

The CRYGS gene is associated with autosomal dominant congenital cataracts (MedGen UID: 101117).

CTDP1
Synonym(s): CCFDN; FCP1

The CTDP1 gene is associated with autosomal recessive congenital cataracts with facial dysmorphism and neuropathy (CCFDN) (Medgen UID: 346973).

CYP1B1
Synonym(s): CP1B; CYPIB1; GLC3A; P4501B1

The CYP1B1 gene is associated with autosomal recessive primary congenital glaucoma 3A (GLC3A), and juvenile- and adult-onset primary open-angle glaucoma (POAG) (MedGen UID: 42532). CYP1B1 is also associated with an increased risk for glaucoma that may be seen in combination with Peters anomaly (MedGen UID: 91031).

D
E
EPHA2
Synonym(s): ARCC2; CTPA; CTPP1; CTRCT6; ECK

The EPHA2 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 396229).

F
FAM126A
Synonym(s): DRCTNNB1A; HCC; HLD5; HYCC1

The FAM126A gene is associated with autosomal recessive hypomyelination and congenital cataracts (HCC) (MedGen UID: 382379).

FOXC1
Synonym(s): ARA; FKHL7; FREAC-3; FREAC3; IGDA; IHG1; IRID1; RIEG3

The FOXC1 gene is associated with autosomal dominant anterior segment dysgenesis (ASD) (MedGen UID: 355748) and Axenfeld-Rieger syndrome (ARS) (Medgen UID: 394534).

FOXE3
Synonym(s): FKHL12; FREAC8

The FOXE3 gene is associated with autosomal recessive congenital primary aphakia [CPA] (MedGen UID: 339935) and autosomal dominant anterior segment mesenchymal dysgenesis [ASMD] (MedGen UID: 350766) and thoracic aortic aneurysm and/or dissection (TAAD) (MedGen UID: 468423).

FYCO1
Synonym(s): CATC2; CTRCT18; RUFY3; ZFYVE7

The FYCO1 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 351249)

G
GALK1
Synonym(s): GALK; GK1; HEL-S-19

The GALK1 gene is associated with autosomal recessive galactokinase galactosemia (MedGen UID: 120614).

GCNT2
Synonym(s): bA360O19.2; bA421M1.1; CCAT; CTRCT13; GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3

The GCNT2 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 811703).

GDF3
Synonym(s): KFS3; MCOP7; MCOPCB6

The GDF3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with a skeletal disorder with ocular involvement (PMID: 19864492, 24859618).

GDF6
Synonym(s): BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL; SGM1

The GDF6 gene is associated with autosomal dominant Klippel-Feil syndrome 1 (KFS1) (MedGen UID: 396196), autosomal recessive Leber congenital amaurosis 17 (LCA17) (MedGen UID: 811616), autosomal isolated microphthalmia 4 (MCOP4) (MedGen UID: 414346), and autosomal digenic microphthalmia with coloboma 6 (MCOPCB6) (MedGen UID: 462318).

GJA3
Synonym(s): CTRCT14; CX46; CZP3

The GJA3 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 356152)

GJA8
Synonym(s): CAE; CAE1; CTRCT1; CX50; CZP1; MP70

The GJA8 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 349374) and autosomal recessive congenital cataracts (PMID: 21720542).

GUCY2D
Synonym(s): CORD5; CORD6; CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; retGC; RETGC-1; ROS-GC1; ROSGC

The GUCY2D gene is associated with autosomal recessive Leber congenital amaurosis 1 (MedGen UID: 419026) and autosomal dominant cone rod dystrophy 6 (MedGen UID: 400963).

H
HESX1
Synonym(s): ANF; CPHD5; RPX

The HESX1 gene is associated with autosomal recessive septo-optic dysplasia (SOD) (MedGen UID: 90926). Additionally, the HESX1 gene has preliminary evidence supporting a correlation with microphthalmia/anophthalmia (PMID: 17148560) and autosomal dominant idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS) (PMID: 23465708).

HSF4
Synonym(s): CTM; CTRCT5

The HSF4 gene is associated with autosomal dominant and autosomal recessive cataracts (MedGen UID: 78608). Evidence to date suggests loss of function variants in HSF4 may be associated with autosomal recessive cataracts, while a dominant negative mechanism may be associated with autosomal dominant cataracts. The available evidence regarding these associations however, is limited.

I
IMPDH1
Synonym(s): IMPD; IMPD1; IMPDH-I; LCA11; RP10; sWSS2608

The IMPDH1 gene is associated with autosomal dominant retinitis pigmentosa 10 (MedGen UID: 357247). Additionally, the IMPDH1 gene has preliminary evidence supporting a correlation with autosomal dominant Leber congenital amaurosis 11 (PMID: 16384941, 23661368).

INVS
Synonym(s): INV; NPH2; NPHP2

The INVS gene is associated with autosomal recessive infantile nephronopthisis (MedGen UID: 355574).

IQCB1
Synonym(s): NPHP5; PIQ; SLSN5

The IQCB1 gene is associated with autosomal recessive nephronophthisis and Leber congenital amaurosis, which, when present together, are referred to as Senior-Loken syndrome (MedGen UID: 332226).

J
K
KCNJ13
Synonym(s): KIR1.4; KIR7.1; LCA16; SVD

The KCNJ13 gene is associated with autosomal dominant snowflake vitreoretinal degeneration (MedGen UID: 395476) and autosomal recessive Leber congenital amaurosis 16 (MedGen UID: 481692).

L
LCA5
Synonym(s): C6orf152

The LCA5 gene is associated with autosomal recessive Leber congenital amaurosis 5 (LCA5) (MedGen UID: 388031).

LIM2
Synonym(s): CTRCT19; MP17; MP19

The LIM2 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive cataracts (PMID: 11917274).

LRAT
Synonym(s): LCA14

The LRAT gene is associated with autosomal recessive Leber congenital amaurosis 14 (MedGen UID: 442375), and early-onset retinitis pigmentosa (MedGen UID: 442376).

M
MAB21L2
Synonym(s): MCOPS14

The MAB21L2 gene is associated with autosomal dominant syndromic microphthalmia/coloboma and skeletal dysplasia syndrome (MedGen UID: 862977).

MAF
Synonym(s): AYGRP; c-MAF; CCA4; CTRCT21

The MAF gene is associated with autosomal dominant Ayme-Gripp syndrome (MedGen UID: 371416) and congenital cataracts (PMID: 17982426, 11772997).

MFRP
Synonym(s): MCOP5; NNO2; RD6

The MFRP gene is associated with autosomal recessive isolated microphthalmia 5 (MCOP5) (MedGen UID: 410021).

MIP
Synonym(s): AQP0; CTRCT15; LIM1; MIP26; MP26

The MIP gene is associated with autosomal dominant congenital cataracts (MedGen UID: 815331).

MKKS
Synonym(s): BBS6; HMCS; KMS; MKS

The MKKS gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and autosomal recessive McKusick-Kaufman syndrome (MedGen UID: 184924).

MKS1
Synonym(s): BBS13; MES; MKS; POC12

The MKS1 gene is associated with autosomal recessive Meckel-Gruber syndrome (MedGen UID: 811346), and Joubert syndrome (PMID: 24886560).

N
NHS
Synonym(s): CTRCT40; CXN; SCML1

The NHS gene is associated with X-linked Nance-Horan syndrome (MedGen UID: 208665).

NMNAT1
Synonym(s): LCA9; NMNAT; PNAT1

The NMNAT1 gene is associated with autosomal recessive Leber congenital amaurosis 9 (LCA9) (MedGen UID: 325277).

NPHP1
Synonym(s): JBTS4; NPH1; SLSN1

The NPHP1 gene is associated with autosomal recessive ciliopathies including nephronophthisis (MedGen UID: 343406), Senior-Loken syndrome (MedGen UID: 96045) and Joubert syndrome 4 (MedGen UID: 335526).

NPHP3
Synonym(s): CFAP31; MKS7; NPH3; RHPD; RHPD1; SLSN3

The NPHP3 gene is associated with autosomal recessive ciliopathies including nephronopthisis (MedGen UID: 346809), Meckel-Gruber syndrome (MedGen UID: 382217), and renal-hepatic-pancreatic dysplasia (MedGen UID: 382215).

NPHP4
Synonym(s): POC10; SLSN4

The NPHP4 gene is associated with autosomal recessive ciliopathies including nephronophthesis (MedGen UID: 339667) and Senior-Loken syndrome, type 4 (MedGen UID: 337697).

O
OCRL
Synonym(s): INPP5F; LOCR; NPHL2; OCRL-1; OCRL1

The OCRL gene is associated with X-linked recessive Lowe syndrome (MedGen UID: 18145).

OTX2
Synonym(s): CPHD6; MCOPS5

The OTX2 gene is associated with autosomal dominant microphthalmia, anophthalmia, coloboma (MAC) spectrum (MedGen UID: 468558). Additionally, the OTX2 gene has preliminary evidence supporting a correlation with autosomal dominant pituitary hormone deficiency (MedGen UID: 462790; PMID: 18728160) and autosomal dominant Leber congenital amaurosis (LCA) (PMID: 23847139, 15846561).

P
PAX2
Synonym(s): FSGS7; PAPRS

The PAX2 gene is associated with autosomal dominant papillorenal syndrome (MedGen UID: 339002). Additionally, the PAX2 gene has preliminary evidence supporting a correlation with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 807486; PMID: 24676634).

PAX6
Synonym(s): AN; AN2; D11S812E; FVH1; MGDA; WAGR

The PAX6 gene is associated with autosomal dominant Peters anomaly (MedGen UID: 91031), aniridia (MedGen UID: 1941), keratitis (MedGen UID: 332039) and optic nerve malformations (OMIM: 120430). Additionally, the PAX6 gene has limited evidence supporting a correlation with autosomal dominant Gillespie syndrome (MedGen UID: 96563) and foveal hypoplasia (MedGen UID: 342639). PAX6 is also involved in the contiguous gene deletion syndrome WAGR (MedGen UID: 64512).

PITX2
Synonym(s): ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS

The PITX2 gene is associated with autosomal dominant Axenfeld-Rieger syndrome (ARS) (MedGen UID: 811487) and autosomal dominant iridogoniodysgenesis (MedGen UID: 330750). Additionally, the PITX2 gene has limited evidence supporting a correlation with Peters anomaly (PMID: 10051017) and ring dermoid of cornea (PMID: 15591271).

PITX3
Synonym(s): ASMD; ASOD; CTPP4; CTRCT11; PTX3

The PITX3 gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID: 351162; PMID: 16565358). Additionally, the PITX3 gene has preliminary evidence supporting a correlation with anterior segment mesenchymal dysgenesis (MedGen UID: 350766).

PRPH2
Synonym(s): AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2; RDS; RP7; TSPAN22

The PRPH2 gene is associated with autosomal dominant and autosomal recessive PRPH2-related conditions including retinitis pigmentosa 7 (RP) (OMIM: 608133), Leber congenital amaurosis 18 (LCA) (OMIM: 608133), retinitis punctata albescens (RPA) (OMIM: 136880), macular dystrophy (MD) (OMIM: 608161), and central areolar choroidal dystrophy 2 (CACD) (OMIM: 613105).

PRSS56
Synonym(s): MCOP6

The PRSS56 gene is associated with autosomal recessive isolated microphthalmia-6 (MCOP6) (MedGen UID: 462107).

PXDN
Synonym(s): COPOA; D2S448; D2S448E; MG50; PRG2; PXN; VPO

The PXDN gene is associated with autosomal recessive corneal opacification and other ocular anomalies (COPOA) (MedGen UID: 344000).

Q
R
RARB
Synonym(s): HAP; MCOPS12; NR1B2; RARbeta1; RRB2

The RARB gene is associated with autosomal dominant pulmonary hypoplasia, diaphragmatic hernia, anophthalmia/microphthalmia, and cardiac defect (PDAC) syndrome (MedGen UID: 816133). Additionally, the RARB gene has preliminary evidence supporting a correlation with autosomal recessive PDAC syndrome (PMID: 24075189).

RAX
Synonym(s): MCOP3; RX

The RAX gene is associated with autosomal recessive isolated microphthalmia 3 (MCOP3) (MedGen UID: 370863).

RB1
Synonym(s): OSRC; p105-Rb; pp110; PPP1R130; pRb; RB

The RB1 gene is associated with autosomal dominant retinoblastoma (MedGen UID: 20552). Additionally, evidence of varying degrees suggests a possible association between the RB1 gene and several cancer types in retinoblastoma survivors (PMID: 14996857, 22355046).

RD3
Synonym(s): C1orf36; LCA12

The RD3 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 347535 ).

RDH12
Synonym(s): LCA13; RP53; SDR7C2

The RDH12 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 382544).

RPE65
Synonym(s): BCO3; LCA2; mRPE65; rd12; RP20; sRPE65

The RPE65 gene is associated with autosomal recessive Leber congenital amaurosis 2 (MedGen UID: 348473), and retinitis pigmentosa 20 (MedGen UID: 462436).

RPGRIP1
Synonym(s): CORD13; LCA6; RGI1; RGRIP; RPGRIP; RPGRIP1d

The RPGRIP1 gene is associated with autosomal recessive Leber congenital amaurosis 6 (MedGen UID: 344245). Additionally, the RPGRIP1 gene has preliminary evidence supporting a correlation with autosomal recessive cone-rod dystrophy 13 (PMID: 26766544, 12920076, 23776498).

S
SALL4
Synonym(s): DRRS; HSAL4; ZNF797

The SALL4 gene is associated with a spectrum of autosomal dominant SALL4-related disorders: Duane-radial ray syndrome (DRRS), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS) (MedGen UID: 301647, 831194, 833793). Additionally, the SALL4 gene has preliminary evidence supporting a correlation with autosomal recessive microphthalmia, anophthalmia, coloboma spectrum (MAC) (PMID: 27661448).

SDCCAG8
Synonym(s): BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085; NPHP10; NY-CO-8; SLSN7

The SDCCAG8 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019), and Senior-Loken syndrome (MedGen UID: 462227).

SEMA3E
Synonym(s): coll-5; M-SEMAH; M-SemaK; SEMAH

The SEMA3E gene has preliminary evidence supporting a correlation with Kallmann syndrome (PMID: 25985275).

SHH
Synonym(s): HHG1; HLP3; HPE3; MCOPCB5; SMMCI; TPT; TPTPS

The SHH gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 327125). Additionally, the SHH gene has preliminary evidence supporting a correlation with autosomal dominant isolated ocular anomalies (PMID: 12503095, 20425842).

SIL1
Synonym(s): BAP; MSS; ULG5

The SIL1 gene is associated with autosomal recessive Marinesco-Sjogren syndrome (MSS) (MedGen UID: 6222).

SOX2
Synonym(s): ANOP3; MCOPS3

The SOX2 gene is associated with autosomal dominant syndromic microphthalmia (MedGen UID: 347232).

SPATA7
Synonym(s): HEL-S-296; HSD-3.1; HSD3; LCA3

The SPATA7 gene is associated with autosomal recessive Leber congenital amaurosis 3 (MedGen UID: 346964), and early-onset retinitis pigmentosa (MedGen UID: 414470).

STRA6
Synonym(s): MCOPCB8; MCOPS9; PP14296

The STRA6 gene is associated with autosomal recessive isolated microphthalmia 8 with coloboma (MCOPCB8) (MedGen UID: 761921) and syndromic microphthalmia 9 (MCOPS9) (MedGen UID: 318679).

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TDRD7
Synonym(s): CATC4; PCTAIRE2BP; TRAP

The TDRD7 gene is associated autosomal recessive congenital cataracts (MedGen UID: 462654).

TRIM32
Synonym(s): BBS11; HT2A; LGMD2H; TATIP

The TRIM32 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS)(MedGen UID: 395295) and limb-girdle muscular dystrophy type 2H (LGMD2H) (MedGen UID:78750). Additionally, the TRIM32 gene has preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation (PMID: 26586575).

TTC8
Synonym(s): BBS8; RP51

The TTC8 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 347181).

TULP1
Synonym(s): LCA15; RP14; TUBL1

The TULP1 gene is associated with autosomal recessive Leber congenital amaurosis 15 (MedGen UID: 462556), and retinitis pigmentosa 14 (MedGen UID: 325056).

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VAX1
Synonym(s): MCOPS11

The VAX1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive syndromic micropthalmia 11 (MCOPS11) (PMID: 22095910, 23463464).

VIM
Synonym(s): CTRCT30; HEL113

The VIM gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital cataracts (PMID: 19126778).

VSX2
Synonym(s): CHX10; HOX10; MCOP2; MCOPCB3; RET1

The VSX2 gene is associated with autosomal recessive microphthalmia (MedGen UID: 351204).

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WDPCP
Synonym(s): BBS15; C2orf86; CHDTHP; FRITZ; FRTZ

The WDPCP gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 461477).

WDR19
Synonym(s): ATD5; CED4; DYF-2; IFT144; NPHP13; ORF26; Oseg6; PWDMP; SRTD5

The WDR19 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (ATD) (MedGen UID: 482228), nephronophthisis (NPHP) (OMIM ID: 614377) and Senior-Loken syndrome (SLS) (MedGen UID: 905171).

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