Normal-tension glaucoma: Pathogenesis and genetics

Abstract

Normal-tension glaucoma (NTG) is a multifactorial optic neuropathy which, similar to open-angle glaucomas, is characterized by progressive retinal ganglion cell death and glaucomatous visual field loss. The major distinction of NTG from open-angle glaucomas is that the intraocular pressure (IOP) does not exceed the normal range. Missing the major risk factor and target of therapy, the elevated IOP, NTG poses a clinical challenge. Several insightful reviews have been published on the pathophysiology of NTG describing the possible underlying mechanisms. The current literature available also suggests that a significant percentage of patients with NTG (as high as 21%) have a family history of glaucoma, indicating a genetic predisposition to the disease. These facts strengthen the indication that NTG remains an enigmatic process. The aim of this review was to summarize the vascular, mechanical and genetic components considered to be responsible for NTG development and to discuss the mechanisms through which they are involved in the pathogenesis of NTG.

Keywords: genetics; glaucoma; intraocular pressure; normal tension; pathogenesis.

Figure 1.

Factors contributing to normal-tension glaucoma (NTG). BP, blood pressure; RVP, retinal venous pressure; OPP, ocular perfusion pressure; OBF, ocular blood flow; ET-1, endothelin-1; RGC, retinal ganglion cell; OSAHS, obstructive sleep apnea/hypopnea syndrome; IOP, intraocular pressure; ONH, optic nerve head; LC, lamina cribrosa.