Literature review of ophthalmological findings in patients with LS
| Author | Journal | Year | Cases (n) | Locus of mutation | Ptosis | Strabismus* | Nystagmus | OA | PR |
|---|---|---|---|---|---|---|---|---|---|
| Grover et al9 | Am J Ophthalmol | 1970 | 2 | NA | 0/2 | 0/2 | 1/2 | 2/2 | 0/2 |
| Howard et al8† | Am J Opthalmol | 1972 | 65 | NA | 2/65 | 26/65‡ | 17/65 | 18/65 | NA |
| Calcić et al | J Child Neurol | 2001 | 1 | NI in mtDNA and SURF1 | 1/1 | 1/1 | 1/1 | 0/1 | 0/1 |
| Nesbitt et al | Dev Med Child Neurol | 2012 | 16 | MT-ND3 (m.10191T>C) | NA | NA | 2/16 | 4/16 | NA |
| Kirby et al§ | Ann Neurol | 2003 | 3 | MT-ND5 (m.13513G>A) | 0/1 | 1/1 | 0/1 | 1/1 | 0/1 |
| Sudo et al18 | J Hum Genet | 2004 | 6 | MT-ND5 (m.13513G>A) | 5/6 | 3/6 | NA | 2/4 | NA |
| Ruiter et al | Eur J Hum Genet | 2007 | 2 | MT-ND5 (m.13513G>A) | 1/2 | 2/2 | 2/2 | 2/2 | NA |
| Brautbar et al | Mol Genet Metab | 2008 | 5 | MT-ND5 (m.13513G>A) | 2/4 | 3/3 | NA | 1/4 | NA |
| Leshinsky et al† | J Child Neurol | 2011 | 18 | MT-ND6 (m.14487T>C) | NA | NA | NA | 4/18 | NA |
| Fanhnehjelm et al¶ | Acta Ophthalmol | 2012 | 1 | MT-ND6 (m.14487T>C) | 0/1 | 1/1 | NA | 0/1 | 0/1 |
| Hayashi et al | Ophthalmology | 2000 | 1 | MT-ATP6 (m.8993T>G) | 0/1 | 0/1 | 0/1 | 1/1 | 0/1 |
| West et al | J Pediatr Ophthalmol Strabismus | 2009 | 1 | SURF1 | 0/1 | 1/1 | 1/1 | NA | NA |
| Rahman et al3 | Ann Neurol | 1996 | 35 | Heterogeneous | 6/35 | 12/35 | 16/35 | 12/35 | NA |
| Gronlund et al10 | Br J Opthalmol | 2010 | 12 | Heterogeneous | 0/12 | 3/12 | 3/12 | 4/12 | 0/12 |
| Ma et al | J Clin Neurosci | 2013 | 75 | Heterogeneous | 3/75 | 2/75 | 4/75 | NA | NA |
| This report | – | – | 44 | Heterogeneous | 7/44 | 18/44 | 6/44 | 9/39 | 9/39 |
| Total | 27/249 (10.8%) | 72/248 (29.0%) | 52/254 (20.5%) | 60/201 (29.9%) | 9/57 (15.8%) |
*Strabismus was assessed together with ophthalmoplegia or reduced ocular motility.
†These cases were from the literature review in the article.
‡One case in this report had esotropia initially, but spontaneous consecutive exotropia developed later. Ten cases were exotropia, six cases were esotropia, two cases were not specified, and others were ophthalmoplegia.
§There were three cases in this article. Among them, one case was from Rahman et al3 and another case did not have ophthalmologic information.
¶Two cases were reported in this article, but another patient had not been fully evaluated due to poor cooperation. Therefore it was excluded from analysis.
x/y, x is the number of patients with this clinical features, y is the number of patients for whom information regarding this clinical feature was available.
LS, Leigh syndrome; mtDNA, mitochondrial DNA; NA, not available; NI, not identified; OA, optic atrophy; PR, pigmentary retinopathy; SURF1, surfeit locus protein 1.