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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.

Nat. Genet. 38, 1242–1244 (2006); published online 1 October 2006; corrected after print 6 June 2011 In the version of this article initially published, the author Andrew Bastawrous was omitted from the author list. The error has been corrected in the HTML and PDF versions of the article.

SUMMARY Anterior segment ischemia (ASI) is a potentially blinding complication of extensive eye muscle surgery. Eyes have been described with this complication following surgery on as few as two rectus muscles, especially in patients with thyroid dysfunction or other medical illnesses. In an attempt to assess the risk of ASI, we have reviewed the records of 34 eyes in 26 patients who underwent surgery on three or four rectus muscles. Seven eyes of six patients with thyroid ophthalmopathy which underwent two- or threemuscle surgery were also studied. Evidence of clinically significant ASI was apparent in only one patient during a follow-up period of seven months to eleven years. This case was mild and no visual toss resulted. Our findings suggest that surgery on three or four rectus muscles in healthy patients is probably safe when performed in a staged fashion.

In response to the information needs of scientists and physicians who work in the field of vision, we have developed a direct-access, on-line specialized information retrieval system which combines computer-assisted instruction and bibliographic retrieval. An essential feature of the system is its accessibility via remote computer terminal. The key to the data base is a thesaurus which contains specific terminology arranged in a hierarchical structure. The thesaurus is used both for indexing the literature and for retrieving the information stored in the computer. Courses of instruction on selected subjects in ophthalmology have been programmed and form part of the data base. A search of the literature retrieval system by single subject, or by a combination of several subjects chosen from the thesaurus, retrieves the appropriate bibliographic citations. The response to the service offered by the Vision Information Center indicates that the center should expand its facilities to satisfy the needs of its clients.

ABSTRACT Previous studies have indicated that visual acuities of normal infants can be estimated with good accuracy using swept spatial frequency visual-evoked-potentials (VECPs). In this report we describe acuity measurements obtained with this technique from 304 examinations performed on 135 children having various visual disorders. When possible, two or more different stimulation frequencies (8, 12, 15 or 24 contrast reversals/sec) were used in each patient, and three to eight sweep VECPs were obtained from each patient under each simulation and recording condition. High correlation coefficients (0.94 - 0.96) between the acuity estimated on each patient from either the single sweep giving the best visual acuity (BSS) or from vector averages (VeA) of the EEG data obtained from several sweeps confirmed previous findings in normal infants. We also found high correlation coefficients among BSS recorded at different temporal frequencies (0.79 - 0.97) and among comparisons of BSS or VeA acuity to optotype visual acuity (0.6 - 0.89). Children with clinically undetectable optokinetic responses showed lower visual acuity estimated by BSS than those who demonstrated optokinetic nystagmus. We conclude that the sweep VECP is a valid method, giving estimates of acuity which correlate well with optotype acuity and correspond well to other clinical findings, and that it can be useful in the clinical management of nonverbal patients.

ABSTRACT The visual pathway of albinos is characterized by abnormal optic nerve fiber decussation with increased contralateral projection. This results in hemispheric asymmetry of monocular visually evoked cortical potentials (VECPs) and may be related to lack of stereopsis. Flash VECP, Random Dot E (RDE), and Titmus stereotest data were collected from 40 nystagmus patients, 19 albino and 21 with normal pigmentation. Data were compared with results obtained from 19 race- and age-matched normal subjects. All albino patients demonstrated hemispheric VECP asymmetries exceeding ± 2.0 standard deviations from the normal mean, showing either delayed ipsilateral P latency (88%), reduced ipsilateral P amplitude (59%), or both (47%). None of the normally pigmented Infantile nystagmus patients exceeded this criteria on either VECP measure. While only one albinotic patient showed positive RDE and stereofly results, 86% of normally pigmented nystagmus patients passed the stereofly test, 60% demonstrated 400 sec (Titmus) stereopsis, and 66% showed positive RDE results. These findings reveal that normally pigmented infantile nystagmus patients have variable degrees of stereopsis and no excessive abnormalities of optic nerve fiber decussation as evidenced by flash VECP. Additionally, this study verifies visual pathway abnormalities and the lack of stereopsis in albino nystagmus patients.

ABSTRACT In an effort to define the most comfortable electrode needing the simplest skin preparation with low and stable skin impedance, we compared the impedance between skin electrodes and Stat-Trace Il SM 02 EKG electrodes (Niko Med USA, New Brunswick, NJ) - the latter being renamed \"dry electrodes\" because they are used without electrolyte paste - on 12 normal subjects with two different skin preparations, with and without alcohol. The dry electrodes were found to have lower impedance than the skin electrodes. With each skin preparation the alcohol scored better, 7.2 kOhm vs 16.5 kOhm, respectively, and \"no preparation\" worse, 13.8 kOhm vs 22.7 kOhm, respectively, (but still acceptable when the dry electrode was used). The dry electrode's impedance was quite stable from the moment of application while the skin electrode's impedance drifted dramatically for 30 minutes. If the dry electrode was halved in area of skin contact, as often is necessary with the nasal electrode in children, the impedance rose proportionally but remained acceptable. We conclude that the new dry electrodes give us improved electro-oculography records and suggest their use, particularly for infants and young children where ease of application and simple skin preparation are particularly important.

ABSTRACT Four patients with dissociated horizontal deviation (DHD) are described and an explanation of their horizontal comitant deviations is offered. The patients had asymmetric comitant horizontal deviations dependent on the fixing eye. All of them had unequal visual acuity (VA) and asymmetric manifest latent nystagmus (MLN) documented with eye movement recordings. The subjects appear to use convergence to reduce their nystagmus when viewing with the eye having more severe nystagmus and hence poorer vision. When patients viewed with the eye having less nystagmus, little or no convergence was exhibited. We suggest that DHD may be the manifestation of an asymmetric nystagmus blockage syndrome (NBS). The dampening effect of convergence on nystagmus has been well documented in the past and seems to apply here. The patients demonstrate that a true, but asymmetric NBS, can be found with MLN.