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.

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.

Posterior continuous curvilinear capsulorhexis with anterior vitrectomy vs optic capture buttonholing without anterior vitrectomy in pediatric cataract surgery.

PURPOSE: To investigate long-term complications after pediatric cataract surgery with implantation of a heparin-coated polymethyl methacrylate intraocular lens (PMMA IOL) and posterior continuous curvilinear capsulorhexis (PCCC) with anterior vitrectomy vs PCCC without anterior vitrectomy with optic capture buttonholing. SETTING: Department of Ophthalmology, Goethe University, Frankfurt, Germany. DESIGN: Prospective randomized clinical trial. METHODS: Eyes with unilateral or bilateral congenital cataract without further pathologies or former surgeries were randomly assigned in 2 groups: cataract removal, IOL implantation, and PCCC with anterior vitrectomy (group A) or posterior optic buttonholing without anterior vitrectomy (group B). The main outcome measures were posterior capsule opacification (PCO), complication rates, and refractive development. RESULTS: 58 eyes of 41 pediatric cataract surgery patients were included. The mean age at the time of operation was 66.05 months (±29.39). In group A (n = 26), 2 eyes required treatment for PCO, whereas the optic axis remained clear in all eyes in group B (n = 30), which was statistically insignificant. In addition, group B had a slightly lower rate of complications. The mean spherical equivalent after a mean postoperative follow-up of 6.5 years was -0.11 ± 2.51 diopters (D) (-5.0 to +4.0 D) in group A and -0.08 ± 2.14 D (-5.0 to +4.0 D) in group B, which was also statistically insignificant. CONCLUSIONS: Optic capture with a heparin-coated PMMA IOL proved to be a safe technique in the prevention of secondary cataract formation without a higher rate of complications and the necessity of vitrectomy.

Predictability of intraocular lens calculation using the Holladay II formula after in-the-bag or optic captured posterior chamber intraocular lens implantation in paediatric cataracts.

PURPOSE: To assess the predictability of postoperative refraction using the Holladay II-formula in paediatric patients randomized to undergo 2 different surgical procedures. METHODS: Fourty cataractous eyes of 29 patients (age 2.31-11.75 years) were operated with in-the-bag intraocular lens implantation. Randomly, either an anterior vitrectomy (group A, 19 eyes) or posterior optic capture without vitrectomy (group B, 21 eyes) was performed. Randomization was done in 4 separate age groups, in accordance with 4 target refractions (0, 1, 2 and 3 dpt) to compensate for the anticipated myopic shift. RESULTS: The predicted refraction correlated with the achieved postoperative refraction (total group, p = 0.019), closer in group A (p = 0.033) than in group B (p = 0.265); however, the results of groups A and B were not significantly different (p = 0.324). There was a tendency for postoperative targeted hyperopia being underachieved in the youngest patients. CONCLUSION: The Holladay II formula provides reliable intraocular lens calculation in paediatric cataracts. The tendency to underachieve the target refraction in younger patients needs further investigation.

Scotopic pupil size in a normal pediatric population using infrared pupillometry.

PURPOSE: To determine scotopic pupil diameter in a normal pediatric population. METHODS: Scotopic pupil size was measured in 166 eyes of 83 children with a mean age of 6.01+/-4.11 years (range 0.51-14.26 years) using the light and hand-held Colvard infrared pupillometer. Measurements were performed under dim illumination after 2 min of dark adaptation. The Colvard infrared pupillometer utilizes light amplification technology to determine scotopic pupil size. RESULT: The mean scotopic pupil diameter was 6.06+/-0.95 mm (range 4.0-8.5 mm) in the right eyes (OD) and 6.11+/-1.02 mm (range 4.0-8.5 mm) in the left eyes (OS), and 6.09+/-0.98 mm (range 4.0-8.5 mm) for both eyes (OU). An increase in mean scotopic pupil size with age was detected, with a peak of 7.28+/-0.42 mm at the age of 10-11 years. The correlation coefficient for age and scotopic pupil diameter was 0.51 OU (OD 0.52, OS 0.51), and the correlation coefficient for objective refraction (spherical equivalent) and scotopic pupil diameter was 0.05 OU (OD 0.01, OS 0.08). CONCLUSIONS: The scotopic pupil diameter in a pediatric population increases with age until the age of 11 years and then decreases again.

[Predictive value of teller Acuity Card Test (TACT) and comparison of recognition and grating acuities in premature children with and without residua of Retinopathy of Prematurity (ROP)]. / Zum prognostischen Stellenwert der Gittersehschärfe bei Frühgeborenen mit und ohne Retinopathia praematurorum (RPM) im Lebensalter von 6 Monaten nach errechnetem Geburtstermin.

BACKGROUND: The aim of the study was to evaluate the predictive value of grating acuity as measured by the TAC Test (TACT) at the age of 6 months corrected age and to compare grating and recognition acuities in eyes with and without ROP residua at an age of three to seven years. PATIENTS AND METHODS: The development of visual acuity between 6 months and 3 - 7 years (4.5 years median) was evaluated in 87 eyes of 44 premature children born between the 24 th and 36 th week of gestation, with a birthweight ranging from 550 to 2580 g. Thirteen eyes reached threshold: ROP disease and underwent cryocoagulation. Grating acuity was measured with the TACT at 6 months corrected age and every half year up to three to seven years (median 4.5 years). Recognition acuity was measured with the Sheridan-Gardiner Test (SGT) at 4.5 years (median). TACT-results at 6 months corrected age and 3 - 7 years were compared for the group of patients with normal posterior pole and patients with ROP residua. Furthermore, SGT scores and TACT scores were compared at the 4.5 years follow-up. A visual acuity of >/= 0.1 (3 cy/ degrees ) and >/= 0.4 (13 cy/ degrees ) was considered favourable at the age of 6 months corrected age and 3 - 7 years, respectively. RESULTS: The TACT scores ranged from < 0.03 to 0.2 (< 1.0 to 6.5 cy/ degrees ) at 6 months and from < 0.05 to 2.0 (< 1.6 to 57 cy/ degrees ) at 3 - 7 years. In 77 % of cases the TACT scores at 6 months had predictive value for the further TACT scores and in 78 % for the optotype acuity. There was no difference between eyes with normal posterior pole and eyes with ROP residua concerning the predictive value of non favourable optotype acuity. CONCLUSIONS: Testing grating acuity at 6 months corrected age allows to roughly predict both grating and recognition acuities at the age of 3 - 7 years. No difference between patients with normal posterior pole and patients with ROP residua was found.

Striatal activation during blepharospasm revealed by fMRI.

OBJECTIVE: To investigate brain areas involved in the initiation and execution of eyelid spasm in patients with benign essential blepharospasm. METHODS: The authors used fMRI and correlated the blood oxygenation level-dependent (BOLD) signal with epochs of frequent eyelid spasm in six patients and with epochs of voluntary eye blinks in four healthy subjects. RESULTS: Spasm epochs were accompanied by activation in a subregion of the putamen in all patients, whereas voluntary blinking in healthy subjects was not. Other areas of activation common to patients and healthy subjects included frontal and parietal operculum, supplementary motor area, primary sensorimotor cortex, various visual areas, and the cerebellum. CONCLUSIONS: The striatum may be involved in the initiation or execution of eyelid spasm. Future studies, possibly including electromyography (EMG) during fMRI, are needed to detect the sequence and role of other concomitantly activated areas.