Table 1. Clinical Manifestations of Patients Carrying MYO7A Mutations.
| USH01-III:1 | USH01-III:2 | USH02-II:1 | USH03-II:1 | |||||
| O.D. | O.S. | O.D. | O.S. | O.D. | O.S. | O.D. | O.S. | |
| Genotype ( MYO7A ) | ||||||||
| Type of Mutation | Biallelic | Biallelic | Homozygous | Homozygous | ||||
| Nucleotide Variation | c.[1343+1G>A];[2837T>G] | c.[1343+1G>A];[2837T>G] | c.581_582del | c.494C>T | ||||
| Amino Acid Change | p.[?];[Met946Arg] | p.[?];[Met946Arg] | p.Pro194Hisfs*13 | p.Thr165Met | ||||
| Novel or Recurrent | Novel | Novel | Novel | Recurrent | ||||
| Frequency in Control Alleles | 0/200 | 0/200 | 0/200 | 0/200 | ||||
| Accession Numbers in National Institutes of Health Sequence Read Archive | ||||||||
| BioProject | SRP040003 | SRP040003 | SRP040003 | SRP040003 | ||||
| BioSamples | SRS579268 | SRS579270 | SRS569215 | SRS579266 | ||||
| Runs | SRR1200449 | SRR1200450 | SRR1200411 | SRR1200446 | ||||
| Age (years)/Sex | 24/M | 22/M | 50/F | 60/F | ||||
| Walking Age | 12-month | 12-month | 20-month | 24-month | ||||
| Onset Age for Hearing Impairments | since born | since born | since born | since born | ||||
| Onset Age for Visual Defects | 15-year-old | 13-year-old | 7-year-old | 6-year-old | ||||
| BCVAs (logMAR) | 0.8 | 0.8 | 0.6 | 0.7 | FC | FC | HM | HM |
| IOP (mmHg) | 14 | 13.8 | 13.2 | 14.5 | 14.5 | 18.5 | 17.5 | 16.5 |
| Fundus Appearance | ||||||||
| Macular Degeneration | No | No | No | No | Yes | Yes | Yes | Yes |
| Optic Disk | Pale | Pale | Pale | Pale | Pale | Pale | Pale | Pale |
| Artery Attenuation | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Pigment Deposits | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Visual Field | TV | TV | TV | TV | NA | NA | NA | NA |
| Electroretinography | Diminished | Diminished | Diminished | Diminished | NA | NA | NA | NA |
| Clinical Diagnosis | USH type 2 | USH type 2 | USH type 1 | USH type 1 | ||||
Abbreviations: USH: usher syndrome; O.D.: right eye; O.S.: left eye; SD: splice site mutation; M: male; F: female; BCVA: best-corrected visual acuities; FC: finger count; HM: hand move; IOP: intraocular pressure; TV: tubular vision; NA: not available.