Genomics Precision Diagnostic > Ophthalmology Precision Panel > Optic Atrophy Precision Panel

Optic Atrophy Precision Panel – 58 genes

Optic atrophy is the clinical manifestation of any disease process causing axon degeneration in the retinogeniculate pathway. Particularly, these diseases affect the retinal ganglion cells and their axons forming the optic nerve, which are in charge of transferring the visual information from the photoreceptors to the lateral geniculus in the brain.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Optic atrophy is the clinical manifestation of any disease process causing axon degeneration in the retinogeniculate pathway. Particularly, these diseases affect the retinal ganglion cells and their axons forming the optic nerve, which are in charge of transferring the visual information from the photoreceptors to the lateral geniculus in the brain. Optic atrophy is clinically seen as changes in the color and the structure of the optic disc associated with variable degrees of visual dysfunction starting typically in the first decade of life. It is a relative common form of inherited optic neuropathy and it may be syndromic which can include extra-ocular symptoms mostly neuromuscular. The mode of inheritance varies from mitochondrial, autosomal dominant and recessive.
The Igenomix Optic Atrophy Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of progressive 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 Optic Atrophy Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Blurred vision
- Difficulties with peripheral vision
- Difficulties with color vision
- Reduction in the sharpness of 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 treatment with a multidisciplinary team in the form of regular ophthalmologic examination, low vision aids and preventive measures such as avoidance of alcohol, tobacco and some medications.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ACO2*	Cerebellar-Retinal Degeneration, Optic Atrophy	AR	100	33 of 33
*AFG3L2*	Optic Atrophy, Spinocerebellar And Spastic Ataxia, Myoclonic Epilepsy, Neuropathy	AD,AR	99.74	42 of 42
*ATP6*	Leber Optic Atrophy, Neuropathy, Ataxia, Retinitis Pigmentosa, Striatal Necrosis, Leigh Syndrome, Spastic Paraplegia Narp Syndrome	MI	–	–
*ATP8*	Kearns-Sayre Syndrome	–	98.02	–
*AUH*	3-Methylglutaconic Aciduria	AR	99.99	11 of 11
*C12ORF65*	Oxidative Phosphorylation Deficiency, Spastic Paraplegia	AR	–	–
*C19ORF12*	Neurodegeneration, Brain Iron Accumulation, Spastic Paraplegia, Mitochondrial Membrane Protein- Associated Neurodegeneration	AD,AR	–	–
*CISD2*	Wolfram Syndrome	AR	92.92	5 of 5
*COX3*	Leber Optic Atrophy, Leber Hereditary Optic Neuropathy, MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes)	MI	–	–
*CYTB*	Leber Optic Atrophy, MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes), Histiocytoid Cardiomyopathy	MI	98.8	–
*DNAJC19*	3-Methylglutaconic Aciduria, Dilated Cardiomyopathy, Ataxia	AR	100	6 of 6
*DNM1L*	Encephalopathy, Optic Atrophy	AD,AR	100	29 of 29
*FDXR*	Neuropathy, Optic Atrophy, Ataxia, Global Developmental Delay	AR	99.93	23 of 23
*MECR*	Dystonia, Optic Atrophy, Basal Ganglia Abnormalities	AR	100	8 of 8
*MFN2*	Charcot-Marie- Tooth Disease, Motor And Sensory Neuropathy, Multiple Symmetric Lipomatosis	AD,AR	100	233 of 233
*MT-CO1*	Myoglobinuria, Mitochondrial Complex Iv Deficiency, Sideroblastic Anemia, Deafness	–	97.64	–
*MT-CO2*	Colorectal Cancer, Tetralogy Of Fallot, MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke- Like Episodes)	–	99.19	–
*MT-ND1*	MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes), Optic Neuropathy, Alzheimer, Sudden Infant Death Syndrome	–	98.8	–
*MTPAP*	Spastic Ataxia, Optic Atrophy, Dysarthria Syndrome	AR	99.99	2 of 2
*ND2*	Leber Optic Atrophy, Complex I Deficiency, Leigh Syndrome	MI	85.56	–
*ND3*	Complex I Deficiency, Leigh Syndrome	–	99.99	–
*ND4*	Leber Optic Atrophy, MELAS (Mitochondrial Myopathy, Encephalopathy , Lactic Acidosis And Stroke- Like Episodes), Leigh Syndrome	MI	–	–
*ND4L*	Leber Optic Atrophy	MI	99.83	–
*ND5*	Leber Optic Atrophy, MELAS (Mitochondrial Myopathy, Encephalopathy , Lactic Acidosis And Stroke-Like Episodes), MERRF (Mioclonic Epilepsy With Ragged-Red Fibres), Leigh Syndrome	MI	99.89	–
*ND6*	Leber Optic Atrophy, MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes), Leigh Syndrome	MI	100	–
*NDUFS1*	Complex I Deficiency, Leigh Syndrome, Leukodystrophy	AR	99.98	30 of 30
*NR2F1*	Bosch-Boonstra Optic Atrophy Syndrome, Intellectual Disability	AD	89.78	26 of 31
*OPA1*	Behr Syndrome, DNA Depletion Syndrome, Optic Atrophy, Deafness, Ophthalmoplegia, Myopathy, Ataxia, Neuropathy	AD,AR	99.98	397 of 402
*OPA3*	Optic Atrophy, 3-Methylglutaconic Aciduria, Cataract	AD,AR	100	18 of 18
*POLG*	DNA Depletion Syndrome, Ophthalmoplegia, Sensory Ataxic Neuropathy, Dysarthria, Alpers- Huttenlocher Syndrome, Neurogastrointestinal Encephalomyopathy	AD,AR	99.92	325 of 326
*RTN4IP1*	Optic Atrophy , Ataxia, Mental Retardation , Seizures	AR	99.91	14 of 14
*SLC24A1*	Night Blindness	AR	99.23	26 of 26
*SLC25A46*	Neuropathy	AR	99.79	16 of 17
*SLC52A2*	Brown-Vialetto– Van Laere Syndrome, Spinocerebellar Ataxia, Blindness, Deafness	AR	100	31 of 32
*SNX10*	Osteopetrosis	AR	100	14 of 14
*SPG7*	Spastic Paraplegia, Primary Lateral Sclerosis	AD,AR	99.94	125 of 126
*TIMM8A*	Mohr- Tranebjaerg Syndrome	X,XR,G	100	–
*TMEM126A*	Optic Atrophy, Auditory Neuropathy	AR	100	4 of 4
*TRNC*	MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke- Like Episodes)	MI	–	–
*TRNE*	Diabetes, Deafness, Myopathy, Cytochrome C Oxidase Deficiency	–	–	–
*TRNF*	MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes), MERRF (Mioclonic Epilepsy With Ragged- Red Fibres)	MI	–	–
*TRNH*	MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes), MERRF (Mioclonic Epilepsy With Ragged-Red Fibres)	–	–	–
*TRNI*	MERRF (Mioclonic Epilepsy With Ragged -Red Fibres)	MI	–	–
*TRNK*	Maternally- Inherited Diabetes And Deafness, Leigh Syndrome Cardiomyopathy, Hearing Loss, MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes), MERRF (Mioclonic Epilepsy With Ragged-Red Fibres)	MI	–	–
*TRNL1*	MELAS (Mitochondrial Myopathy, Encephalopathy , Lactic Acidosis And Stroke-Like Episodes), MERRF (Mioclonic Epilepsy With Ragged– Red Fibres), Kearns-Sayre Syndrome, Diabetes, Deafness, Leigh Syndrome, Ophthalmoplegia	MI	–	–
*TRNL2*	Ophthalmoplegia	–	–	–
*TRNN*	Mitochondrial Complex Iv Deficiency, Ophthalmoplegia	AR,MI	–	–
*TRNQ*	MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke- Like Episodes), MERRF (Mioclonic Epilepsy With Ragged-Red Fibres)	MI	–	–
*TRNS1*	Deafness, Mitochondrial Complex Iv Deficiency, Ophthalmoplegia, Palmoplantar Keratoderma, MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke- Like Episodes), MERRF (Mioclonic Epilepsy With Ragged- Red Fibres)	AR,MI	–	–
*TRNS2*	MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke -Like Episodes) MERRF (Mioclonic Epilepsy With Ragged-Red Fibres), Usher Syndrome	MI	–	–
*TRNT*	Lethal Infantile Mitochondrial Myopathy	MI	–	–
*TRNV*	MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke- Like Episodes), Leigh Syndrome	MI	–	–
*TRNW*	Optic Atrophy, Leigh Syndrome, MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke- Like Episodes)	AR,MI	–	–
*TSFM*	Oxidative Phosphorylation Deficiency	AR	93.35	11 of 14
*UCHL1*	Neurodegeneration, Optic Atrophy, Parkinson Disease	AD,AR	100	5 of 5
*WFS1*	Cataract, Deafness, Diabetes Mellitus, Wolfram Syndrome	AD,AR	99.97	390 of 395
*YME1L1*	Optic Atrophy	AR	99.98	1 of 1
*ZNHIT3*	Peho Syndrome	AR	73.96	1 of 1

* 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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