Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene FRMD7 (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye movement recordings of 90 subjects with mutation in the gene (FRMD7 group) to 48 subjects without mutations but with clinical IIN (non-FRMD7 group). Fifty-eight female obligate carriers of the mutation were also investigated. The median visual acuity (VA) was 0.2 logMAR (Snellen equivalent 6/9) in both groups and most patients had good stereopsis. The prevalence of strabismus was also similar (FRMD7: 7.8%, non-FRMD7: 10%). The presence of anomalous head posture (AHP) was significantly higher in the non-FRMD7 group (P < 0.0001). The amplitude of nystagmus was more strongly dependent on the direction of gaze in the FRMD7 group being lower at primary position (P < 0.0001), compared to non-FRMD7 group (P = 0.83). Pendular nystagmus waveforms were also more frequent in the FRMD7 group (P = 0.003). Fifty-three percent of the obligate female carriers of an FRMD7 mutation were clinically affected. The VA's in affected females were slightly better compared to affected males (P = 0.014). Subnormal optokinetic responses were found in a subgroup of obligate unaffected carriers, which may be interpreted as a sub-clinical manifestation. FRMD7 is a major cause of X-linked IIN. Most clinical and eye movement characteristics were similar in the FRMD7 group and non-FRMD7 group with most patients having good VA and stereopsis and low incidence of strabismus. Fewer patients in the FRMD7 group had AHPs, their amplitude of nystagmus being lower in primary position. Our findings are helpful in the clinical identification of IIN and genetic counselling of nystagmus patients.

IMPORTANCE Occlusion dose monitors have helped establish that better adherence to occlusion is associated with improved visual outcomes in patients undergoing amblyopia treatment. However, the role of adherence to glasses wearing is unknown.OBJECTIVES To establish the feasibility and reliability of objectively monitoring adherence to glasses wearing using age-based norms, establish the association between adherence to glasses wearing and improvement in visual acuity (VA) after optical treatment and occlusion therapy, and analyze the effect of age, sex, refractive errors, type of amblyopia, and adherence to glasses wearing on improvement in VA.

Background/aims: Few studies have investigated normal response characteristics of torsional optokinetic nystagmus (tOKN). The authors have investigated the effect of stimulus velocity and central/peripheral stimulation on tOKN. Methods: Torsional OKN was elicited using a sinusoidal grating rotating at velocities of 3˚/s to 1000˚/s in clockwise and anticlockwise directions. To investigate the effect of central stimulation, stimulus size was varied from 2.86˚to 50.8˚. An artificial scotoma placed over a 50.8˚stimulus was varied from 2.86˚to 43.2˚to investigate peripheral stimulation. Eight subjects participated in each experiment and torsional eye movements were recorded using video-oculography. The mean slow phase velocity (MSPV) and gain were calculated. Results: The maximum gain occurred in response to 8˚/s stimulation. The MSPV increased up to a stimulus velocity of 200˚/s achieving a maximum of 3˚/s in both directions. MSPV was linearly correlated with the log of stimulus velocity. The smallest field size, rotating at 40˚/s, evoked 10% of the gain elicited by the largest display. When the most peripheral stimulus was used, the gain was maintained at 50% of the gain evoked when the full display was used. Conclusions: A wide range of stimulus velocities can elicit tOKN and peripheral field stimulation contributes significantly to its response.

SummaryWe describe a novel treatment of superior oblique myokymia.. A forty year old woman