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פאנלים
Neuro-Ophthalmology
GC_83
Last update: 07.01.2026
Neuro-ophthalmic disorders affect the optic nerve, ocular motor system, or visual pathways and often occur as part of broader neurologic or mitochondrial disease. Clinical manifestations include optic neuropathy, ophthalmoplegia, abnormal eye movements, nystagmus, strabismus, and unexplained visual loss.
This panel includes genes associated with the major inherited optic neuropathies, mitochondrial disorders, congenital cranial dysinnervation disorders, and syndromic neuro-ophthalmic diseases. Representative genes include OPA1, OPA3, WFS1, POLG, MFN2, RTN4IP1, TMEM126A, SSBP1, and mitochondrial genes.
This panel is recommended for patients whose visual impairment is suspected to arise from the optic nerve or neurologic disease rather than primary retinal pathology, particularly when neurologic or mitochondrial features are also present.
ACO2, AFG3L2, ANGPT1, ANTXR1, APTX, ASB10, ATAD3A, AUH, C10ORF2, C12ORF65, C19ORF12, CHN1, CISD2, CPAMD8, CYP1B1, DNAJC19, DNM1L, ELP4, FDXR, FOXC1, FOXD3, FRMD7, GPR143, HESX1, ISCA2, KIF21A, LTBP2, MECR, MFN2, MGME1, 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, MYOC, NARS2, NDUFAF3, NDUFS1, NR2F1, NTF4, OPA1, OPA3, OPTN, OTX2, PAX6, PDSS1, PHOX2A, POLG, PRPS1, PXDN, ROBO3, RRM2B, RTN4IP1, SALL4, SETX, SLC19A2, SLC19A3, SLC25A4, SLC25A46, SLC38A8, SLC52A2, SNX10, SOX2, SPATA13, SPG7, SSBP1, SUCLA2, TEK, TIMM8A, TK2, TMEM126A, TP53BP2, TRIM44, TSFM, TUBB3, TYMP, UCHL1, WDR36, WFS1, YME1L1, ZNHIT3
ClinVar P/LP variants (IDs) not covered: TK2: [3778875]
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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