Genomics Precision Diagnostic > Ophthalmology Precision Panel > Congenital Cataract Precision Panel

Congenital Cataract Precision Panel

A cataract is a loss of lens transparency. The crystalline lens plays a crucial role in the refractive vision by facilitating variable fine focusing of light onto the retina. Congenital cataracts are usually diagnosed at birth, failure to do so can result in permanent vision loss.

Overview

A cataract is a loss of lens transparency. The crystalline lens plays a crucial role in the refractive vision by facilitating variable fine focusing of light onto the retina. Congenital cataracts are usually diagnosed at birth, failure to do so can result in permanent vision loss. They are the most common cause of visual impairment and blindness in children worldwide. Genetic, metabolic, traumatic and infectious factors can all lead to childhood cataracts. However, about one quarter of congenital cataracts are associated to genetic defects, are usually bilateral and quite heterogeneous. Congenital cataracts can be inherited in an autosomal dominant or recessive pattern as well as X-linked.
The Igenomix Congenital Cataracts Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of blindness ultimately 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 Congenital Cataracts Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Lenticular opacity
- Irregular red reflex
- White reflex
- Retinal detachment

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 treatment with a multidisciplinary team in the form of medical therapy to prevent the progression to amblyopia, cataract surgery and dietary restrictions in the cause of galactosemia.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

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GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*AGK*	Congenital Cataract- Hypertrophic Cardiomyopathy- Mitochondrial Myopathy Syndrome	AR	99.98	33 of 33
*BCOR*	Syndromic Micropthalmia, Oculofaciocardiodental Syndrome	X,XD,G	99.87	NA of NA
*BFSP1*	Cataract, Multiple Types	AD,AR	97.54	7 of 8
*BFSP2*	Autosomal Dominant Cataract, Multiple Types	AD	100	7 of 7
*CAV1*	Lipodystrophy With Congenital Cataracts And Neurodegeneration , Lipodystrophy, Berardinelli- Seip Congenital Lipodystrophy, Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis	AD,AR	100	18 of 18
*CHMP4B*	Cataract, Multiple Types	AD	99.72	3 of 3
*CRYAA*	Cataract, Multiple Types, Cataract-Microcornea Syndrome	AD,AR	100	26 of 26
*CRYAB*	Alpha-b Crystallinopathy, Posterior Polar Cataract, Congenital Lamellar Cataract, Familial Isolated Dilated Cardiomyopathy	AD,AR	100	30 of 30
*CRYBA1*	Congenital Zonular Cataract With Sutural Opacities	AD	100	14 of 14
*CRYBA2*	Floriform Cataracts	AD	100	2 of 2
*CRYBA4*	Cataract-Microcornea Syndrome	AD	100	11 of 11
*CRYBB1*	Autosomal Recessive Congenital Nuclear Cataract, Cataract- Microcornea Syndrome	AD,AR	100	20 of 20
*CRYBB2*	Congenital Cataract Cerulean Type, Cataract- Microcornea Syndrome	AD	100	28 of 28
*CRYBB3*	Autosomal Recessive Congenital Nuclear Cataract	AD,AR	100	7 of 7
*CRYGB*	Cataract Multiple Types	AD	99.57	2 of 2
*CRYGC*	Coppock-Like Cataract, Cataract-Microcornea Syndrome	AD	100	31 of 31
*CRYGD*	Crystalline Aculeiform Cataract, Cataract- Microcornea Syndrome	AD	99.98	28 of 28
*CRYGS*	Membranous Cataract	AD	100	9 of 9
*CTDP1*	Congenital Cataracts, Facial Dysmorphism, And Neuropathy	AR	97.52	0 of 1
*EPHA2*	Posterior Polar Cataract, Congenital Total Cataract	AD	100	24 of 24
*EYA1*	Branchiootic Syndrome, Branchiootorenal Syndrome, Otofaciocervical Syndrome, Bor Syndrome	AD	100	197 of 199
*FAM126A*	Hypomyelination And Congenital Cataract	AR	100	11 of 12
*FOXC1*	Axenfeld-Rieger Syndrome Type 3, Iridogoniodysgenesis Type 1, Isolated Aniridia, Peters Anomaly	AD	88.98	94 of 100
*FOXE3*	Familial Thoracic Aortic Aneurysm, Anterior Segment Developmental Anomaly, Congenital Primary Aphakia, Peters Anomaly	AD,AR	81.19	25 of 31
*FTL*	Hyperferritinemia- Cataract Syndrome	AD,AR	100	21 of 63
*FYCO1*	Autosomal Recessive Congenital Cataract	AR	99.98	20 of 20
*GALK1*	Galactokinase Deficiency	AR	97.92	45 of 45
*GCNT2*	Cataract With Adult I Phenotype	AD,AR	97.19	9 of 10
*GFER*	Mitochondrial Progressive Myopathy, With Congenital Cataract, Hearing Loss, And Developmental Delay	AR	99.89	6 of 6
*GJA3*	Zonular Pulverulent Cataract	AD	95.63	35 of 45
*GJA8*	Zonular Pulverulent Cataract, Cataract- Microcornea Syndrome	AD	99.2	72 of 73
*HSF4*	Lamellar Cataract	AD	100	26 of 26
*IARS2*	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	AR	99.95	11 of 11
*INPP5K*	Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability , Marinesco-Sjogren Syndrome	AR	92	10 of 10
*LEMD2*	Cataract, Congenital Or Juvenile Cataract	AR	93.48	3 of 3
*LIM2*	Cataract, Multiple Types	AR	100	4 of 4
*LSS*	Alopecia-Mental Retardation Syndrome, Cataract	AR	100	22 of 22
*MAF*	Ayme-Gripp Syndrome, Cataract Multiple Types, Cataract-Microcornea Syndrome	AD	75.14	23 of 23
*MED25*	Basel-Vanagaite–Smirin-Yosef Syndrome, Congenital Cataract-Microcephaly- Nevus Flammeus Simplex- Severe Intellectual Disability Syndrome	AR	100	5 of 5
*MIP*	Cataract Multiple Types	AD	100	29 of 29
*MIR184*	Edict Syndrome	AD	na	na
*MIR204*	Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	AD	na	na
*MSMO1*	Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	AR	99.78	4 of 4
*NHS*	Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes, Nance-Horan Syndrome	X,XD,G	98.45	NA of NA
*OCRL*	Dent Disease, Lowe Oculocerebrorenal Syndrome	X,XR,G	100	NA of NA
*P3H2*	Myopia, High, With Cataract And Vitreoretinal Degeneration	AR	99.81	NA of NA
*PANK4*	Neurodegeneration With Brain Iron Accumulation , Choreoacanthocytosis	–	99.6	1 of 1
*PAX6*	Aniridia, Anterior Segment Dysgenesis, Multiple Subtypes, Coloboma Of Optic Nerve, Bilateral Congenital, Ocular Coloboma, Foveal Hypoplasia And Presenile Cataract Syndrome, Hereditary Keratitis, Optic Nerve Hypoplasia, Bilateral Optic Nerve Aplasia, Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome, Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	AD	100	460 of 485
*PITX2*	Iridogoniodysgenesis Type 2, Rieger Syndrome Type 1, Ring Dermoid Of Cornea, Axenfeld-Rieger Syndrome, Peters Anomaly	AD	99.97	104 of 107
*PITX3*	Anterior Segment Mesenchymal Dysgenesis , Cataract Multiple Types	AD,AR	99.49	8 of 11
*SIL1*	Marinesco-Sjogren Syndrome	AR	100	47 of 48
*SIPA1L3*	Cataract	AR	96.17	3 of 3
*SLC16A12*	Juvenile Cataract, With Microcornea And Glucosuria	AD	99.95	18 of 18
*SLC25A4*	Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Congenital Cataract-Hypertrophic Cardiomyopathy- Mitochondrial Myopathy Syndrome	AD,AR	99.84	16 of 16
*SLC33A1*	Congenital Cataracts, Hearing Loss, And Neurodegeneration	AD,AR	99.44	9 of 9
*TDRD7*	Cataract, Autosomal Recessive Congenital Cataract	AR	99.98	6 of 6
*TKFC*	Congenital Cataract-Hypertrophic Cardiomyopathy- Mitochondrial Myopathy Syndrome	AR	99.91	NA of NA
*UNC45B*	Cataract	AD	99.72	6 of 6
*VIM*	Cataract Multiple Types	AD	100	4 of 4
*VSX2*	Microphthalmia With Coloboma, Microphthalmia	AR	100	13 of 13
*WFS1*	Nuclear Total Cataract, Wolfram Syndrome	AD,AR	99.97	390 of 395

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

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

Methodology

References

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Congenital Cataract Precision Panel

A cataract is a loss of lens transparency. The crystalline lens plays a crucial role in the refractive vision by facilitating variable fine focusing of light onto the retina. Congenital cataracts are usually diagnosed at birth, failure to do so can result in permanent vision loss.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

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