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פאנלים

Glaucoma

GC_85

Last update: 07.01.2026

Inherited glaucoma is characterized by progressive optic nerve damage, often associated with elevated intraocular pressure and visual field loss. Hereditary forms may present as congenital, juvenile-onset, adult-onset, or syndromic glaucoma and may be associated with anterior segment dysgenesis.

This panel includes genes associated with the major inherited glaucomas, including primary congenital glaucoma, juvenile open-angle glaucoma, anterior segment dysgenesis syndromes, and optic nerve susceptibility disorders. Representative genes include MYOC, CYP1B1, FOXC1, PITX2, LTBP2, TEK, OPTN, TBK1, WDR36, and PAX6.

This panel is recommended for patients with congenital, juvenile-onset, familial, or syndromic glaucoma, particularly when there is bilateral disease, severe intraocular pressure elevation, anterior segment abnormalities, or a strong family history.
ADAMTS10, ADAMTS17, AFG3L2, ANGPT1, ASB10, ATOH7, BMP4, CNTNAP2, COL4A1, COL8A2, CPAMD8, CREBBP, CYP1B1, DDX58, ELP4, EXO5, FOXC1, FOXD3, FOXE3, GJA1, IFIH1, LMX1B, LTBP2, MAF, MFRP, MYOC, NTF4, OCRL, OPA1, OPA3, OPTN, PAX6, PIK3R1, PITX2, PITX3, PRPF8, PRSS56, PXDN, SBF2, SH3PXD2B, SIX6, SLC4A4, SPATA13, SSBP1, TBK1, TEK, TMEM126A, TP53BP2, TRIM44, WDR36

ClinVar P/LP variants (IDs) not covered: ATOH7:[30807] | LMX1B:[4292043]

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