Table.
Summary of all Alleles (c.DNA Changes) and Phenotypes
| ID | Allele 1 | Allele 2 | Phenotype | Age of Onset (Years) | Presenting Visual Symptoms |
|---|---|---|---|---|---|
| MEH001 | c.4552delC | c.4552delC | RP | 8 | Nyctalopia and peripheral vision issues |
| MEH002 | c.8480_8481del* | c.8480_8481del* | RP | Unknown | Nyctalopia and peripheral vision issues |
| MEH003 | c.8588-8611dup* | c.8588-8611dup* | RP | 8 | Peripheral vision issues |
| MEH004 | Exon 4-6 del* | Exon 4_6 del* | RP | 9 | Nyctalopia and peripheral vision issues |
| MEH005 | c.5237G>A | c.9278+2T>G | Sectoral RP | 17 | Mild peripheral vision issues |
| MEH006 | c.3954C>A | Exon 17_30 del* | RP | 6 | Nyctalopia and peripheral vision issues |
| MEH007 | c.6393delC | c.6254-3_6254delinsT | RP | 7 | Peripheral vision issues |
| MEH008 | c.6900C>G | c.9077+1G>T | RP | 14 | Nyctalopia |
| MEH009 | c.5237G>A | c.7823G>A | Sectoral RP | Asymptomatic | Asymptomatic |
| MEH010 | c.1411G>A | c.4759_4766del8 | RP | 6 | Nyctalopia |
| MEH011 | c.8308+1G>A | c.336+1del | RP | 10 | Nyctalopia |
| MEH012 | c.7482+2T>C | c.5916_5917delTC | RP | unknown | Nyctalopia |
| MEH013 | Exon 67_69 del* | Exon 67_69 del* | RP | Unknown | Nyctalopia and peripheral vision issues |
| MEH014 | c.6319C>T | c.7305dup* | RP | 8 | Unknown |
| MEH015 | c.8722G>A | c.3337G>C | RP | Unknown | Nyctalopia and peripheral vision issues |
| MEH016 | c.2398-1G>T | c.7908C>G | RP | 8 | Nyctalopia |
| MEH017 | c.4246C>T* | c.4246C>T* | RP | 9 | Nyctalopia and peripheral vision issues |
| MEH018 | c.1336delG* | c.9122T>C | RP | 12 | Nyctalopia and peripheral vision issues |
| MEH019 | c.5368+1G>T | c.5237G>A | RP | Unknown | Too young for symptoms |
| MEH020 | Exon 67_68 del | Exon 67_68 del | RP | 13 | Nyctalopia and peripheral vision issues |
| MEH021 | c.7823G>A | c.9122T>C | RP | 12 | Nyctalopia and peripheral vision issues |
| MEH022 | c.7908C>G | c.193delC | RP | 10 | Nyctalopia |
| MEH023 | c.6319C>T | c.6319C>T | RP | Unknown | Nyctalopia |
| MEH024 | c.1986+3A>T* | c.1986+3A>T* | RP | 1 | Nyctalopia and peripheral vision issues |
| MEH025 | c.1986+3A>T* | c.1986+3A>T* | RP | unknown | Nyctalopia |
| MEH026 | c.9122T>C | c.2177-2A>G | RP | unknown | Nyctalopia |
| MEH027 | c.4759_4766del | Not found | RP | 18 | Nyctalopia and peripheral vision issues |
| MEH028 | c.1369C>T | c.5237G>A | Sectoral RP | 16 | Peripheral vision issues |
| MEH029 | c.1411G>A | c.4759_4766del8 | RP | 16 | Nyctalopia and peripheral vision issues |
| MEH030 | c.6050-9G>A | c.6050-9G>A | RP | 8 | Nyctalopia and peripheral vision issues |
| MEH031 | c.9319+1G>T | Exon 35_38 del* | RP | 14 | Nyctalopia and peripheral vision issues |
Ten variants are novel (asterisks).
RP, retinitis pigmentosa.