Genomics Precision Diagnostic > Ophthalmology Precision Panel > Leber Congenital Amaurosis Precision Panel

Leber Congenital Amaurosis Precision Panel – 24 genes

Leber Congenital Amaurosis (LCA) belongs to the spectrum of early-onset retinal dystrophies. It is a group of monogenic inherited retinal degenerations that show early onset and severe visual dysfunction.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Leber Congenital Amaurosis (LCA) belongs to the spectrum of early-onset retinal dystrophies. It is a group of monogenic inherited retinal degenerations that show early onset and severe visual dysfunction. Although it is a genetically and phenotypically heterogeneous group of disease it presents in the first few years of life, most often before the age of 1 year and is characterized by wandering nystagmus and reduced vision from birth. Patients may have normal intelligence, but data has demonstrated that as many as 20% develop intellectual disability. The genetic causes of these diseases are due to mutations in genes that play a role in the development and function of the retina and is generally inherited in an autosomal recessive pattern.
The Igenomix Leber Congenital Amaurosis 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 Leber Congenital Amaurosis Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Nystagmus
- Amaurotic pupil response
- Visual loss
- Photophobia
- Cone-shaped cornea
- Strabismus
- Cataract
- Abnormal retinal pigment

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 novel gene therapy and medical care.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Detect novel disease-causing genes and novel variant in disease-causing genes.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)		HGMD**
*AIPL1*	Leber Congenital Amaurosis, Retinitis Pigmentosa, Cone Rod Dystrophy	AD,AR,X,XR,G		89	82 of 82
*CEP290*	Bardet-Biedl Syndrome, Joubert Syndrome, Leber Congenital Amaurosis, Meckel Syndrome, Senior-Loken Syndrome, Oculorenal Defect	AR		96.47	293 of 327
*CRB1*	Leber Congenital Amaurosis, Pigmented Paravenous Chorioretinal Atrophy, Retinitis Pigmentosa, Nanophthalmos	AD,AR,X,G		99.84	365 of 371
*CRX*	Cone-Rod Dystrophy, Leber Congenital Amaurosis, Retinitis Pigmentosa	AD,AR,X,XR,G		99.91	117 of 117
*GDF6*	Klippel- Feil Syndrome, Leber Congenital Amaurosis, Microphthalmia, Multiple Synostoses Syndrome	AD,AR,MU,D		98.58	19 of 19
*GUCY2D*	Choroidal Dystrophy, Leber Congenital Amaurosis, Night Blindness, Cone Rod Dystrophy	AD,AR		99.98	248 of 248
*IFT140*	Retinitis Pigmentosa, Short- Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome, Leber Congenital Amaurosis	AR		99.97	81 of 81
*IMPDH1*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AD		99.98	29 of 29
*IQCB1*	Senior- Loken Syndrome, Leber Congenital Amaurosis	AR		99.98	43 of 43
*KCNJ13*	Leber Congenital Amaurosis, Vitreoretinal Degeneration	AD,AR		99.64	11 of 11
*LCA5*	Leber Congenital Amaurosis	AR		99.67	51 of 52
*LRAT*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AD,AR,X,XR,G		100	25 of 25
*NMNAT1*	Leber Congenital Amaurosis, Cone Rod Dystrophy	AR		98.94	72 of 75
*PCYT1A*	Spondylo- metaphyseal Dysplasia, Cone-Rod Dystrophy, Leber Congenital Amaurosis	AR		99.98	22 of 22
*PRPH2*	Choroidal Dystrophy, Macular Dystrophy, Patterned Dystrophy Of Retinal Pigment Epithelium, Retinitis Pigmentosa, Foveomacular Vitelliform Dystrophy, Cone Rod Dystrophy, Retinitis Pigmentosa, Retinitis Punctata Albescens, Stargardt Disease	AD,AR		100	188 of 188
*RD3*	Leber Congenital Amaurosis	AR		100	13 of 13
*RDH12*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AD,AR		100	122 of 122
*ROM1*	Retinitis Pigmentosa	AD,AR,X,XR,G		100	20 of 20
*RPE65*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AD,AR		100	231 of 231
*RPGRIP1*	Leber Congenital Amaurosis, Cone Rod Dystrophy, Meckel Syndrome	AR		99.33	146 of 159
*SPATA7*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AR		97.02	43 of 43
*TUBB4B*	Leber Congenital Amaurosis, Deafness	AD		100	3 of 3
*TULP1*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AR		99.9	82 of 82
*USP45*	Leber Congenital Amaurosis	AR		99.08	4 of 5

* 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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