Table 4.
Primary inherited optic nerve disorders – Pattern of inheritance, reported loci, and causative genes.
| Inheritance | Locus | Gene | OMIM | Phenotypes | References |
|---|---|---|---|---|---|
| AD | 3q28-q29 | OPA1 | 165500 | Isolated optic atrophy and syndromal forms of dominant optic atrophy (DOA+) | (Delettre et al., 2000; Alexander et al., 2000; Yu-Wai-Man et al., 2010b) |
| 19q13.2-q13.3 | OPA3 | 165300 | Optic atrophy and premature cataracts (ADOAC) | (Garcin et al., 1961; Reynier et al., 2004) | |
| 18q12.2-q12.3 | OPA4 (Unknown) | 605293 | Optic atrophy | (Kerrison et al., 1999) | |
| 22q12.1-q13.1 | OPA5 (Unknown) | 610708 | Optic atrophy | (Barbet et al., 2005) | |
| 16q21-q22 | OPA8 (Unknown) | – | Optic atrophy and sensorineural deafness | (Carelli et al., 2007c) | |
| AR | 19q13.2-q13.3 | OPA3 | 606580 | 3-methylglutaconic aciduria type III (Costeff syndrome) | (Anikster et al., 2001) |
| 8q21-q22 | OPA6 (Unknown) | 258500 | Optic atrophy | (Barbet et al., 2003) | |
| 11q14.1-q21 | OPA7 (TMEM126A) | 612989 | Optic atrophy | (Hanein et al., 2009) | |
| XL | Xp11.4-p11.21 | OPA2 (Unknown) | 311050 | Optic atrophy | (Assink et al., 1997; Katz et al., 2006) |
| Mitochondrial | – | – | 53500 | Leber hereditary optic neuropathy and overlap mitochondrial syndromes | Table 1 |