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

Health, education, and social care provision after diagnosis of childhood visual disability

Aim: To investigate the health, education, and social care provision for children newly diagnosed with visual disability.Method: This was a national prospective study, the British Childhood Visual Impairment and Blindness Study 2 (BCVIS2), ascertaining new diagnoses of visual impairment or severe visual impairment and blindness (SVIBL), or equivalent vi-sion. Data collection was performed by managing clinicians up to 1-year follow-up, and included health and developmental needs, and health, education, and social care provision.Results: BCVIS2 identified 784 children newly diagnosed with visual impairment/SVIBL (313 with visual impairment, 471 with SVIBL). Most children had associated systemic disorders (559 [71%], 167 [54%] with visual impairment, and 392 [84%] with SVIBL). Care from multidisciplinary teams was provided for 549 children (70%). Two-thirds (515) had not received an Education, Health, and Care Plan (EHCP). Fewer children with visual impairment had seen a specialist teacher (SVIBL 35%, visual impairment 28%, χ2p < 0.001), or had an EHCP (11% vs 7%, χ2p < 0 . 01).Interpretation: Families need additional support from managing clinicians to access recommended complex interventions such as the use of multidisciplinary teams and educational support. This need is pressing, as the population of children with visual impairment/SVIBL is expected to grow in size and complexity.This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited

Epidemiology and Clinical Study of Nystagmus

Abstract: Introduction: Nystagmus is a repetitive to and fro movement of the eyes and can affect vision and involve individuals of all ages. Previous research into the pathophysiology of this disease has been based on case series or small numbers of patients. Improvements in and standardisation of electrodiagnostics and eye movement recordings have enabled scientists to diagnose and characterise the different nystagmus types more accurately. Purpose: The research into nystagmus carried out at the University of Leicester had several aims. The first population-based study on the prevalence of nystagmus was carried out within the county of Leicestershire. The second study was aimed at examining the clinical features of patients with different types of infantile and neurological nystagmus in order to characterise any specific features associated with this groups of patients. The final study was carried out with the aim of investigating the distribution of refractive errors in patients with nystagmus and to determine if the process of emmetropization in ocular development is influenced by the presence of nystagmus. Methods: Ethical approval was obtained. Patients were recruited for the epidemiological study from both the community and hospitals within Leicestershire. Patients for the clinical and refractive error studies were additionally recruited from outside the county. A further 602 normal subjects volunteered to participate in the refraction study. Results: The epidemiological study estimates the prevalence of nystagmus to be 16.6 per 10 000 (under 18 population) and 26.5 per 10 000 (over 18 population). The clinical study showed differences in visual acuity, stereopsis, anomalous head posture and conjugacy of nystagmus amongst different clinical groups. Finally, the refractive errors study suggests that the process of emmetropization is influenced by the presence of nystagmus. Conclusion: These studies provide previously unknown data about nystagmus and provide a platform for further research into this condition

Epidemiology and clinical study of nystagmus

Nystagmus is a repetitive to and fro movement of the eyes and can affect vision and involve individuals of all ages. Previous research into the pathophysiology of this disease has been based on case series or small numbers of patients. Improvements in and standardisation of electrodiagnostics and eye movement recordings have enabled scientists to diagnose and characterise the different nystagmus types more accurately. Purpose The research into nystagmus carried out at the University of Leicester had several aims. The first population-based study on the prevalence of nystagmus was carried out within the county of Leicestershire. The second study was aimed at examining the clinical features of patients with different types of infantile and neurological nystagmus in order to characterise any specific features associated with this groups of patients. The final study was carried out with the aim of investigating the distribution of refractive errors in patients with nystagmus and to determine if the process of emmetropization in ocular development is influenced by the presence of nystagmus. Methods Ethical approval was obtained. Patients were recruited for the epidemiological study from both the community and hospitals within Leicestershire. Patients for the clinical and refractive error studies were additionally recruited from outside the county. A further 602 normal subjects volunteered to participate in the refraction study. Results The epidemiological study estimates the prevalence of nystagmus to be 16.6 per 10 000 (under 18 population) and 26.5 per 10000 (over 18 population). The clinical study showed differences in visual acuity, stereopsis, anomalous head posture and conjugacy of nystagmus amongst different clinical groups. Finally, the refractive errors study suggests that the process of emmetropization is influenced by the presence of nystagmus. Conclusion These studies provide previously unknown data about nystagmus and provide a platform for further research into this condition.EThOS - Electronic Theses Online ServiceGBUnited Kingdo