Table 1

Clinical characteristics of patients with congenital and acquired superior oblique muscle palsy and nucleotide changes in the ARIX gene

Case NoSexAge at onsetEyePast historyFamily historyDeviation at far (prism dioptres)Magnetic resonance imagingSurgical procedureNucleotide changes
FirstSecondPromoter5′-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.
1F12 yearsLNoNo25LHT/16XTLSO atrophyLIO recess 10 mm LLR recess 6 mm
2M3 monthsLNoNo14LHT/4XTNormalLIO recess 10 mm
3†FChildhoodRNoFather: RE, SOP25RHT/10XTNormalRIO recess 10 mmG153A
4†M40sRNoDaughter: RE, SOP30RHT/6XTRSO atrophyLIR recess 4 mmG153A
5F3 monthsRNoAunt: hypertropia25RHT/14XTRSO atrophyRIO recess 10 mm RSR recess 3 mmLIR recess 3 mm LLR recess 6 mm
6M8 yearsLNoNo10LHT/4XTNormalLIO recess 10 mm
7*MChildhoodRNoNo35RHT/6ETRSO absenceRIO recess 14 mmLIR recess LIR recess 3.5 mm LSR resect 3,5 mmC-44A‡T7C‡
8M4 monthsRNoNo10RHTNormalRIO recess 5 mm
9F20sRNoNo16RHT/14XTNormalRIO recess 10 mm
10M3 yearsLNoNo8LHT/2XTLSO atrophyLIO recess 10 mm
11F3 monthsLNoNo10LHT/6XTLSO atrophyLIO recess 10 mm
12FBirthRNoNo10RHT/6XTNormalRIO recess 4 mm RSR recess 3 mmC-9A‡C76G‡
13M2 yearsRNoNo8RHT/30XTNARLR recess 5 mm RMR resect 5 mm
14F60 yearsLSAH operationNo16LHT/6XTLSO atrophyLIO recess 10 mmRIR recess 3 mm
15F38 yearsLTraffic accidentNo25LHT/8XTLSO atrophyLIO recess 10 mm