Clinical characteristics of patients with congenital and acquired superior oblique muscle palsy and nucleotide changes in the ARIX gene
| Case No | Sex | Age at onset | Eye | Past history | Family history | Deviation at far (prism dioptres) | Magnetic resonance imaging | Surgical procedure | Nucleotide changes | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
| First | Second | Promoter | 5′-UTR of exon1 | ||||||||
| NA = not available; SAH = subarachnoid haemorrhage; LHT = left hypertropia; RHT = right hypertropia; XT = exotropia; ET = esotropia; LSO = left superior oblique; LIO = left inferior oblique; LLR = left lateral rectus; LIR = left inferior rectus; LSR = left superior rectus; RIO = right inferior oblique; RSO = right superior oblique; RSR = right superior rectus; RLR = right lateral rectus; RIR = right inferior rectus; RMR = right medial rectus; SOP = superior oblique muscle palsy. | |||||||||||
| *Patient with superior oblique muscle and trochlea absence. †Father and daughter with superior oblique muscle palsy. ‡These two changes are located on the same strand. | |||||||||||
| Cases 1–13 represent patients with congenital superior oblique muscle palsy and cases 14 and 15 represent the patients with acquired superior oblique muscle palsy. | |||||||||||
| 1 | F | 12 years | L | No | No | 25LHT/16XT | LSO atrophy | LIO recess 10 mm LLR recess 6 mm | |||
| 2 | M | 3 months | L | No | No | 14LHT/4XT | Normal | LIO recess 10 mm | |||
| 3† | F | Childhood | R | No | Father: RE, SOP | 25RHT/10XT | Normal | RIO recess 10 mm | G153A | ||
| 4† | M | 40s | R | No | Daughter: RE, SOP | 30RHT/6XT | RSO atrophy | LIR recess 4 mm | G153A | ||
| 5 | F | 3 months | R | No | Aunt: hypertropia | 25RHT/14XT | RSO atrophy | RIO recess 10 mm RSR recess 3 mm | LIR recess 3 mm LLR recess 6 mm | ||
| 6 | M | 8 years | L | No | No | 10LHT/4XT | Normal | LIO recess 10 mm | |||
| 7* | M | Childhood | R | No | No | 35RHT/6ET | RSO absence | RIO recess 14 mm | LIR recess LIR recess 3.5 mm LSR resect 3,5 mm | C-44A‡ | T7C‡ |
| 8 | M | 4 months | R | No | No | 10RHT | Normal | RIO recess 5 mm | |||
| 9 | F | 20s | R | No | No | 16RHT/14XT | Normal | RIO recess 10 mm | |||
| 10 | M | 3 years | L | No | No | 8LHT/2XT | LSO atrophy | LIO recess 10 mm | |||
| 11 | F | 3 months | L | No | No | 10LHT/6XT | LSO atrophy | LIO recess 10 mm | |||
| 12 | F | Birth | R | No | No | 10RHT/6XT | Normal | RIO recess 4 mm RSR recess 3 mm | C-9A‡ | C76G‡ | |
| 13 | M | 2 years | R | No | No | 8RHT/30XT | NA | RLR recess 5 mm RMR resect 5 mm | |||
| 14 | F | 60 years | L | SAH operation | No | 16LHT/6XT | LSO atrophy | LIO recess 10 mm | RIR recess 3 mm | ||
| 15 | F | 38 years | L | Traffic accident | No | 25LHT/8XT | LSO atrophy | LIO recess 10 mm | |||