Leber Congenital Amaurosis Precision Panel
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
- 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
** HGMD: Number of clinically relevant mutations according to HGMD
References
Tsang, S. H., & Sharma, T. (2018). Leber Congenital Amaurosis. Advances in experimental medicine and biology, 1085, 131–137. https://doi.org/10.1007/978-3-319-95046-4_26
Cideciyan, A. V., & Jacobson, S. G. (2019). Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision. Investigative ophthalmology & visual science, 60(5), 1680–1695. https://doi.org/10.1167/iovs.19-26672
Kumaran, N., Moore, A. T., Weleber, R. G., & Michaelides, M. (2017). Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. The British journal of ophthalmology, 101(9), 1147–1154. https://doi.org/10.1136/bjophthalmol-2016-309975
Kondkar, A., & Abu-Amero, K. (2019). Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine. Experimental Eye Research, 189, 107834. doi: 10.1016/j.exer.2019.107834
Takkar, B., Bansal, P., & Venkatesh, P. (2018). Leber’s Congenital Amaurosis and Gene Therapy. Indian journal of pediatrics, 85(3), 237–242. https://doi.org/10.1007/s12098-017-2394-1
Thompson, J. A., De Roach, J. N., McLaren, T. L., & Lamey, T. M. (2018). A Mini-Review: Leber Congenital Amaurosis: Identification of Disease-Causing Variants and Personalised Therapies. Advances in experimental medicine and biology, 1074, 265–271. https://doi.org/10.1007/978-3-319-75402-4_32
