TABLE 1. Summary of patients with cerebellar dysfunction presenting with binocular diplopia from esotropia.
Patient | Sex | Genetic test results | Family history | Age of diplopia onset | Age of ataxia onset | Age first examined by us | Age at last review | Lateral rectus underaction | Esodeviation worse to Near(N) or Distance(D) | Vertical deviation present | Cerebellar eye signs | Non-ocular cerebellar signs | Brain maging* | Diagnosis | Treatment |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | F | NEG | Y | 36 | 39 | 37 | 46 | L, then B | N = D, then D > N | Y | Broken pursuit, GEN | Y | Normal | ADCA | Prisms & surgery |
2 | M | NEG | Y | 63 | NA | 70 | 71 | B | D > N | Y | Broken pursuit, GEN | N | Small vessel disease | ADCA | Prisms |
3 | M | NEG | N | 73 | 74 | 74 | 76 | B | D > N | N | Broken pursuit, GEN, DBN | Y | Generalised atrophy | ICD | Prisms |
4 | F | NEG | N | 75 | 78 | 75 | 93 | R, then B | D > N | Y | Broken bursuit, hypometric saccade, DBN | Y | Normal | ICD | Prisms |
5 | F | NEG | N | 45 | 75 | 75 | 78 | B | D > N | Y | Broken bursuit, hypometric saccade, GEN | Y | Cerebellar atrophy | ICD | Prisms & botox |
6 | M | ND | N | 66 | NA | 69 | 75 | B | D > N | N | Broken pursuit, GEN | N | Small vessel disease | ICD | Prisms |
7 | F | SCA expansion | Y | 31 | 31 | 38 | 42 | L, then B | D > N | Y | Broken pursuit, GEN, hypometric saccade | Y | Cerebellar atrophy | ADCA | Prisms |
NA = not applicable; ND = not done; GEN = gaze-evoked nystagmus; DBN = down-beat nystagmus; NEG = negative for SCA 1, 2, 3, 6, 7; L = left; R = right; B = both; ADCA = autosomal dominant cerebellar ataxia; ICD = idiopathic cerebellar degeneration.
Only Patient 4 was examined by us at onset, but developed ataxia 3 years and DBN 7 years later. All other patients first presented elsewhere and were first observed to have cerebellar eye signs when first examined by us.
*Magnetic resonance imaging was undertaken except for Patient 4 who had computed tomography due to claustrophobia.