Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Idiopathic congenital nystagmus (ICN) is characterised by involuntary, periodic, predominantly horizontal, oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 ICN singleton cases (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina suggesting a specific role in the control of eye movement and gaze stability

Amblyopia and Visual Development

Background: Amblyopia, ‘lazy’ eye is a unilateral or bilateral reduction in vision for which no organic cause is present by physical examination of the eye with a prevalence of approximately 3.5% of the childhood population. It is commonly associated with a strabismus, refractive error or both. The most common form of treatment is conventional occlusion (daily patching the good eye). Clinical studies have attempted to investigate the optimal treatment of the disease and investigate compliance, however an evidence-base for treatment is still incomplete. Methods: The study included (i) a retrospective study of 322 amblyopic children to assess current visual outcomes in comparison to clinical effort and costs; (ii) A randomised control trial (n=52) comparing prescribed treatments of 0-hours, 3-hours and 6-hours patching per day in which compliance was electronically recorded; (iii) interviews of 25 families to explore reasons behind poor compliance; and (iv) a pilot study of educational material to improve compliance. Results: Current outcomes of amblyopia treatment are mediocre at considerable financial and time-costs. The RCT revealed poor compliance in both patching groups (3-hours and 6-hours) leading to visual improvements that were not significantly better than no patching. However, there was a clear dose-response between visual improvement and effective hours patched (p=0.00013). The interviews demonstrated emotional distress in families, lack of social acceptance, and confusion about amblyopia, its treatment and the role of professionals. Early findings indicate that an educational intervention could reduce the number of poor compliers. Conclusion: Poor compliance leads to poor visual outcomes of occlusion treatment for amblyopia. However, objective monitoring of patching demonstrates that occlusion therapy is effective. An educational intervention could address some of the problems associated with poor compliance such as poor parental understanding, providing feedback of visual improvement to the family and strategies for implementing patching as a normal routine

An educational intervention to improve adherence to high-dosage patching regimen for amblyopia: A randomised controlled trial

Background: Previous reports suggest that adherence to patching is a major issue in amblyopia treatment. We tested with an unmasked randomised controlled clinical trial whether an intense educational/motivational intervention improves adherence when a high-dose regime is prescribed. Methods: 62 children with newly diagnosed amblyopia were randomly allocated into two treatment arms with and without educational/motivational intervention material. Both were prescribed patching 10 h/day, 6 days/week for a fixed period of 12 weeks. The intervention arm received an educational/motivational intervention before patching which included information booklets, video, a cartoon story book, sticker charts and a dedicated session with a researcher. The control arm received the usual clinical information. The primary outcome measure was adherence measured using electronic occlusion dose monitors where a success/failure binary outcome was used to account for participants who dropped out of the study defined as patching >4 h/day. Visual outcome, expressed as percentage visual deficit, was measured as secondary outcome. Results: The intervention increased adherence success rate from 45.2% in the control group to 80.6% in the intervention group (p=0.0027). However, visual outcome was not significantly better in the intervention group (p=0.190). Conclusions: Our study shows that an intense educational/motivational intervention can improve adherence to patching to high prescribed doses although no significant improvement in visual outcome was observed. Trials registration number: ISRCTN05346737 (International Standard Randomised Controlled Trial Number Register)

Predictors and a remedy for noncompliance with amblyopia therapy in children measured with the occlusion dose monitor

PURPOSE. Noncompliance is one of the limiting factors in the success of occlusion therapy for amblyopia. Electronic monitoring was used to investigate predictors of noncompliance, and, in a prospective randomized clinical trial, determined the effectiveness of an educational program. METHODS. Compliance was measured electronically during 1 week every 3 months in 310 newly diagnosed amblyopic children. The family's demographic parameters and the child's clinical parameters were assessed for their influence on the level of compliance. In addition to standard orthoptic care, children were randomized to receive an educational cartoon story, reward stickers, and an information sheet for the parents (intervention group), or a picture to color (reference group). These and the electronic device were distributed during home visits by researchers. The primary outcome measure was the percentage of compliance (actual/prescribed occlusion time) in the two groups. The secondary outcome measure was the influence of demographic and clinical factors on compliance. RESULTS. Compliance was associated with parental fluency in the national language, country of origin, level of education, and initial visual acuity of the child. During the first 1-week measurement period children in the intervention group had better compliance than the reference group had (78% ± 32% vs. 57% ± 40%; P < 0.0001), and fewer children were not occluded at all (3 vs. 23 in the reference group; P < 0.0001). This difference remained throughout the study period. CONCLUSIONS. Poor parental fluency in the national language, a low level of education, and poor acuity at the start of treatment were predictors of low compliance. An educational program primarily aimed at the child improved compliance and reduced the number of children who did not comply with occlusion at all. Copyrigh