Alternative titles; symbols
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 17p13.2 | {Nonarteritic anterior ischemic optic neuropathy, susceptibility to} | 258660 | Autosomal recessive | 3 | GP1BA | 606672 |
A number sign (#) is used with this entry because of evidence that susceptibility to nonarteritic anterior ischemic optic neuropathy (NAION) is conferred by variation in the gene encoding glycoprotein Ib-alpha (GP1BA; 606672) on chromosome 17p13.
Deutsch et al. (1990) described a family in which identical twin sisters in their forties had bilateral nonarteritic anterior ischemic optic neuropathy (NAION) and a younger sister had unilateral papillophlebitis. Berggren et al. (1974) had reported 3 of 7 sibs with anterior ischemic optic neuropathy; in 2, the involvement was bilateral and in 1 unilateral.
Mojon et al. (2002) found a high prevalence of sleep apnea syndrome (107650) in patients with NAION, which supported previous case reports suggesting that such an association existed. This association might explain why approximately 75% of all patients with NAION discovered visual loss upon first awakening or when they first used vision critically after sleeping. The authors stated that sleep apnea syndrome may play an important role in the pathogenesis of NAION.
Deramo et al. (2003) investigated the relationship between NAION and serum lipid levels in 37 consecutive patients diagnosed with NAION at or below age 50 years and 74 age- and gender-matched controls. They found that hypercholesterolemia (143890) was a risk factor in these patients and suggested that NAION might be the first manifestation of a previously unrecognized lipid disorder. The patients had experienced a focal, microvascular central nervous system ischemic event at a relatively young age. Deramo et al. (2003) suggested that aggressive treatment of lipid abnormalities might be warranted in these patients.
Purvin et al. (2004) reviewed medical records of 20 patients who experienced an episode of NAION in an eye with optic disc drusen (ODD). The authors found that their patients were strikingly similar to those with NAION unassociated with drusen with regard to prevalence of vascular risk factors, pattern of visual field loss, and occurrence of a subsequent similar event in the other eye. In contrast, however, patients with ODD and NAION were younger than those with NAION, were more likely to report preceding episodes of transient visual obscuration, and had a more favorable visual outcome.
Salomon et al. (2004) reported that the presence of the VNTR B allele of the GP1BA gene (606672.0002) confers a significant risk for NAION and predisposes affected patients to second eye involvement.
Berggren, L., Thorburn, W., Fodstad, H. Three cases of noninflammatory ischemic optic neuropathy occurring in the same family. Acta Ophthal. 52: 589-595, 1974. [PubMed: 4479396] [Full Text: https://doi.org/10.1111/j.1755-3768.1974.tb01094.x]
Deramo, V. A., Sergott, R. C., Augsburger, J. J., Foroozan, R., Savino, P. J., Leone, A. Ischemic optic neuropathy as the first manifestation of elevated cholesterol levels in young patients. Ophthalmology 110: 1041-1045, 2003. [PubMed: 12750110] [Full Text: https://doi.org/10.1016/S0161-6420(03)00079-4]
Deutsch, D., Eting, E., Avisar, R., Klein, T., Teller, J., Savir, H. Familial anterior ischemic optic neuropathy and papillophlebitis. Am. J. Ophthal. 110: 306-308, 1990. [PubMed: 2396658] [Full Text: https://doi.org/10.1016/s0002-9394(14)76351-2]
Mojon, D. S., Hedges, T. R., III, Ehrenberg, B., Karam, E. Z., Goldblum, D., Abou-Chebl, A., Gugger, M., Mathis, J. Association between sleep apnea syndrome and nonarteritic anterior ischemic optic neuropathy. Arch. Ophthal. 120: 601-605, 2002. [PubMed: 12003609] [Full Text: https://doi.org/10.1001/archopht.120.5.601]
Purvin, V., King, R., Kawasaki, A., Yee, R. Anterior ischemic optic neuropathy in eyes with optic disc drusen. Arch. Ophthal. 122: 48-53, 2004. [PubMed: 14718294] [Full Text: https://doi.org/10.1001/archopht.122.1.48]
Salomon, O., Rosenberg, N., Steinberg, D. M., Huna-Baron, R., Moisseiev, J., Dardik, R., Goldan, O., Kurtz, S., Ifrah, A., Seligsohn, U. Nonarteritic anterior ischemic optic neuropathy is associated with a specific platelet polymorphism located on the glycoprotein 1B-alpha gene. Ophthalmology 111: 184-188, 2004. [PubMed: 14711733] [Full Text: https://doi.org/10.1016/j.ophtha.2003.05.006]