Genomics Precision Diagnostic > Ophthalmology Precision Panel > Corneal Dystrophies Precision Panel

Corneal Dystrophies Precision Panel – 91 genes

Corneal Dystrophies (CD) are a group of genetic, commonly progressive, eye disorders in which abnormal material often accumulates in the clear outer layer of the eye (the cornea).

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Corneal Dystrophies (CD) are a group of genetic, commonly progressive, eye disorders in which abnormal material often accumulates in the clear outer layer of the eye (the cornea). The onset of symptoms varies between patients, from asymptomatic from significant vision impairment cases. This condition can either affect one or both eyes, and the intensity of symptoms in that case is not necessarily equal. The age of onset and specific symptoms vary among the different forms of corneal dystrophy. CD can be grouped by which layers of the cornea is affected:

Anterior/Superficial Coneal Dystrophies.

Stromal Corneal Dystrophies.

Posterior Corneal Dystrophies.
The Igenomix Corneal Dystrophies Precision Panel can be used to make an accurate and directed diagnosis leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Corneal Dystrophies Precision Panel is indicated for those patients with a clinical diagnosis or suspicion presenting with or without the following manifestations:
- Dry eyes
- Loss of vision.
- Sensitivity to light
- Pain in the eye
- Corneal erosions
- Blurred vision.

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of multidisciplinary treatment including a regular follow up in case of asymptomatic patients. Eye drops and ointments can be used in case of mild symptoms. Surgical treatment (corneal transplant) can be considered if the loss of vision is severe enough.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ADAMTS18*	Microcornea, Myopic Chorioreti- L Atrophy, And Telecanthus	AR	100	14 of 14
*AGBL1*	Corneal Dystrophy, Fuchs Endothelial Dystrophy	AD	99.94	4 of 4
*ARL2*	Microcornea, Rod-Cone Dystrophy, Cataract, Posterior Staphyloma	AD	100	1 of 1
*B3GALNT2*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	97.14	17 of 17
*B3GALT6*	Spondyloepimetaphyseal Dysplasia, Ehlers -Danlos Syndrome	AR	65.09	24 of 39
*B3GLCT*	Peters-Plus Syndrome	AR	99.96	–
*B9D2*	Meckel Syndrome	AR	84.81	4 of 5
*BCOR*	Microphthalmia, Oculofaciocardiodental Syndrome	X,XD,G	99.87	–
*BEST1*	Bestrophinopathy, Macular Dystrophy, Retinitis Pigmentosa, Vitreoretinochoroidopathy, Foveomacular Vitelliform Dystrophy, – Nophthalmos	AD,AR	94.35	342 of 344
*BMP4*	Microphthalmia	AD,MU,P	100	38 of 42
*CDH11*	Elsahy-Waters Syndrome, Branchioskeletogenital Syndrome	AR	99.95	10 of 10
*CHN1*	Duane Retraction Syndrome	AD	92.41	11 of 11
*CHRDL1*	Megalocornea, Meesmann Corneal Dystrophy	AR,X,XR,G	99.69	–
*CHST5*	Corneal Macular Dystrophy, Corneal Endothelial Dystrophy, Groenouw Corneal Dystrophy	–	99.97	–
*CHST6*	Corneal Dystrophy	AR	100	177 of 177
*COL17A1*	Epidermolysis Bullosa, Epithelial Recurrent Erosion Dystrophy	AD,AR	100	117 of 117
*COL5A1*	Ehlers-Danlos Syndrome	AD	99.08	191 of 195
*COL8A2*	Corneal Dystrophy, Fuchs Endothelial Dystrophy	AD	94.25	10 of 10
*CRYAA*	Cataract, Microcornea	AD,AR	100	26 of 26
*CRYBA4*	Cataract, Microcornea	AD	100	11 of 11
*CRYBB1*	Cataract	AD,AR	100	20 of 20
*CRYBB2*	Cataract, Microcornea	AD	100	28 of 28
*CRYGC*	Cataract, Microcornea	AD	100	31 of 31
*CRYGD*	Cataract, Microcornea	AD	99.98	28 of 28
*CTCF*	Intellectual Disability, Microcephaly	AD	96.6	39 of 41
*CYP4V2*	Bietti Crystalline Corneoreti-L Dystrophy, Fundus Dystrophy	AR	100	112 of 112
*DAG1*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	99.98	9 of 9
*DCN*	Corneal Dystrophy, Stromal Dystrophy	AD	97.89	5 of 5
*DZANK1*	Corneal Dystrophy	–	99.87	–
*FBN1*	Acromicric Dysplasia, Ectopia Lentis, Marfan Syndrome, Mass Syndrome, Weill-Marchesani Syndrome	AD	100	2836 of 2845
*FMOD*	Corneal Dystrophy	–	99.97	2 of 2
*FOXE3*	Aphakia, Peters Anomaly	AD,AR	81.19	25 of 31
*GJA1*	Oculodentodigital Dysplasia	AD,AR,MU,O	100	119 of 119
*GJA8*	Cataract	AD	99.2	72 of 73
*GLA*	Fabry Disease	X,XR,G	98	–
*GNPTAB*	Mucolipidosis	AR	100	279 of 280
*GORAB*	Geroderma Osteodysplastica	AR	96	17 of 18
*GRHL2*	Corneal Dystrophy	AD,AR	100	8 of 11
*GSN*	Amyloidosis, Corneal Dystrophy	AD	96.69	16 of 17
*HMX1*	Oculoauricular Syndrome	AR	85.58	2 of 2
*JAG1*	Alagille Syndrome	AD	99.98	640 of 641
*KERA*	Cornea Pla-	AR	99.93	17 of 17
*KIF11*	Lymphedema, Microcephaly, Chorioretinopathy	AD	99.78	82 of 89
*KRAS*	Cardiofaciocutaneous Syndrome, Oculoectodermal Syndrome	AD	100	38 of 38
*KRT12*	Corneal Dystrophy	AD	97.81	24 of 24
*KRT3*	Meesmann Corneal Dystrophy	AD	99.94	4 of 4
*LCAT*	Fish-Eye Disease	AR	90	110 of 110
*LMX1B*	-Il-Patella Syndrome	AD,AR	100	191 of 191
*LOXHD1*	Fuchs Corneal Dystrophy	AR	99.98	97 of 97
*LTBP2*	Megalocornea, Ectopia Lentis, Weill-Marchesani Syndrome	AR	99.98	34 of 34
*LUM*	Stromal Dystrophy, Macular Corneal Dystrophy, Cornea Pla-	–	99.83	1 of 1
*MAB21L2*	Microphthalmia	AD,AR	99.97	8 of 8
*MAF*	Cataract, Microcornea,	AD	75.14	23 of 23
*MED25*	Basel-Va-Gaite- Smirin-Yosef Syndrome	AR	100	5 of 5
*MIR184*	Edict Syndrome	AD	–	–
*NHS*	Cataract, -Nce- Horan Syndrome	X,XD,G	98.45	–
*NIPBL*	Cornelia De Lange Syndrome	AD	99.32	409 of 426
*NLRP1*	Corneal Intraepithelial Dyskeratosis, Palmoplantar Carcinoma	AD,AR,MU,P	99.37	15 of 15
*NLRP3*	Keratoendotheliitis Fugax Hereditaria	AD	100	152 of 152
*OPN1LW*	Cone-Rod Dystrophy, Color Blindness, Bornholm Eye Disease	X,XR,G	88	–
*OPN1MW*	Cone-Rod Dystrophy, Color Blindness, Bornholm Eye Disease	X,XR,G	41.73	–
*OSMR*	Amyloidosis	AD	100	14 of 14
*OTX2*	Microphthalmia	AD	100	56 of 58
*OVOL2*	Corneal Dystrophy	AD	99.87	0 of 3
*PAX6*	Aniridia, Coloboma Of Optic Nerve, Foveal Hypoplasia, Keratitis, Peters Anomaly, Wagr Syndrome	AD	100	460 of 485
*PIKFYVE*	Corneal Dystrophy, Yunis-Varon Syndrome,	AD	99.91	16 of 17
*PITX2*	Rieger Syndrome, Ring Dermoid Of Cornea, Peters Anomaly	AD	99.97	104 of 107
*PITX3*	Anterior Segment Mesenchymal Dysgenesis, Cataract	AD,AR	99.49	8 of 11
*PLCB3*	Spondylometaphyseal Dysplasia, Corneal Dystrophy	AR	100	1 of 1
*PLK4*	Microcephaly And Chorioretinopathy	AR	99.74	10 of 10
*PRDM5*	Brittle Cornea Syndrome, Axenfeld- Rieger Syndrome	AR	99.86	13 of 13
*PRSS56*	Microphthalmia, – Nophthalmos	AR	99.65	28 of 30
*PXDN*	Corneal Opacification	AR	100	14 of 14
*RAB18*	Warburg Micro Syndrome	AR	100	4 of 4
*RAB3GAP1*	Warburg Micro Syndrome, Cataract	AR	99.94	70 of 70
*RAB3GAP2*	Martsolf Syndrome, Warburg Micro Syndrome, Spastic Paraplegia, Cataract	AR	100	17 of 17
*RBBP9*	Corneal Dystrophy	–	100	–
*RBP4*	Microphthalmia, Coloboma, Reti-L Dystrophy	AD,AR	100	8 of 8
*SLC16A12*	Cataract, Microcornea	AD	99.95	18 of 18
*SLC4A11*	Corneal Dystrophy, Fuchs Endothelial Dystrophy	AD,AR	99.98	108 of 109
*TACSTD2*	Corneal Dystrophy	AR	97.66	31 of 32
*TBC1D20*	Warburg Micro Syndrome	AR	99.94	6 of 6
*TCF4*	Fuchs Corneal Dystrophy	AD	98.91	124 of 124
*TEK*	Glaucoma	AD,AR	100	35 of 35
*TENM3*	Microphthalmia, Coloboma	AR	99.94	6 of 6
*TGFBI*	Groenouw Corneal Dystrophy	AD	99.98	73 of 73
*UBIAD1*	Schnyder Corneal Dystrophy, Stromal Dystrophy	AD	92	32 of 32
*VSX1*	Keratoconus, Corneal Dystrophy	AD	94.56	25 of 25
*ZEB1*	Corneal Dystrophy	AD	89.95	63 of 65
*ZNF133*	Corneal Dystrophy	–	99.83	3 of 3
*ZNF469*	Brittle Cornea Syndrome	AR	99.91	79 of 79

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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Corneal Dystrophies Precision Panel – 91 genes

Corneal Dystrophies (CD) are a group of genetic, commonly progressive, eye disorders in which abnormal material often accumulates in the clear outer layer of the eye (the cornea).

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Detail description

Request Information

Corneal Dystrophies (CD) are a group of genetic, commonly progressive, eye disorders in which abnormal material often accumulates in the clear outer layer of the eye (the cornea).