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Optic atrophy and optic neuropathy
GC_51
Last update: 16.01.2026
Inherited optic neuropathies are disorders characterized by degeneration or dysfunction of the optic nerve, resulting in progressive visual loss, impaired color vision, visual field defects, and optic disc pallor. Some disorders are isolated, whereas others occur as part of multisystem neurologic or mitochondrial disease.
This panel includes genes associated with the major inherited optic neuropathies, including dominant optic atrophy, Wolfram syndrome, mitochondrial optic neuropathies, Behr syndrome, and syndromic neuro-ophthalmic disorders. Representative genes include OPA1, OPA3, WFS1, TMEM126A, AFG3L2, RTN4IP1, POLG, and mitochondrial genes.
This panel is recommended for patients with optic atrophy or unexplained optic neuropathy when the primary site of disease localizes to the optic nerve rather than the retina or anterior segment.
ACO2, AFG3L2, ALPK1, AP3B2, ATAD3A, ATG7, AUH, BLOC1S1, BORCS8, BTD, C12ORF65, C19ORF12, C19orf12, CISD2, DNAJC19, DNAJC30, DNM1L, EPRS1, FDXR, HIKESHI, HK1, HSD17B10, ISCA2, LETM1, LHX2, LRRC8C, MAG, MCAT, MECR, MFF, MFN2, MGME1, MIEF1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTPAP, MTRFR, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA12, NDUFAF3, NDUFS1, NR2F1, OPA1, OPA3, PDSS1, PDXK, POLG, PPIB, PRPS1, RTN4IP1, SLC19A2, SLC19A3, SLC25A46, SLC44A1, SLC52A2, SNF8, SNX10, SPG7, SSBP1, SUCLA2, TFG, TIMM8A, TMEM126A, TSFM, UCHL1, WFS1, YME1L1, ZNHIT3
ClinVar P/LP variants (IDs) not covered: -
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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