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Purpose: To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations., Methods: Seven affected members were recruited. Medical history, clinical findings, and biometric measurements were recorded. Mutation analysis of the Nance-Horan syndrome (NHS) gene was performed by direct sequencing of polymerase chain reaction-amplified exons., Results: An unusual anterior Y-sutural cataract was documented in the affected male proband. Other clinical features among examined patients included microcorneas, long and narrow faces, and current or previous dental anomalies. A nonsense mutation was identified in each family, including a previously described 742 C>T, p.(Arg248*) mutation in Family A, and a novel mutation 2915 C>A, p.(Ser972*) in Family B., Conclusions: Our study expands the repertoire of NHS mutations and the related phenotype, including newly described anterior Y-sutural cataract and dental findings.

Purpose:  Fatigue due to sleep deprivation is one of the main causes of accidents. An objective and efficient method for determining whether the person is tired could provide a valuable tool in accident prevention. In this study, we evaluated whether oculomotor responses related to pupillary light reflex and saccadic velocity can identify subjects with sleep deprivation and whether these objective values correlate with subjective feeling of sleepiness., Methods:  Thirteen normal subjects (5 male, 8 female) participated in a 4-day study. During the first two days following a full night's (8 hr in bed) sleep, they underwent baseline automated oculomotor testing using the FIT-2500-Fatigue-Analyzer. Following a third full night's sleep, participants were then sleep-deprived for 28 hr. Ten measurements of automated oculomotor tests were performed during the sleep deprivation period. Visually-guided saccadic velocity (SV), initial pupil diameter (PD), pupillary constriction latency (CL), and amplitude of pupil constriction (CA) were assessed using the FIT-2500-Fatigue-Analyzer. The FIT-index, which expresses the deviation of the ocular parameters from the baseline measurements, was calculated. Correlation of oculomotor parameters with the subjective Stanford Sleepiness Scale (SSS) was performed., Results:  We found that oculomotor measures showed a significant increase in CL (298.6 to 308.4 msec, P < 0.05) and calculated FIT index (3.4 to 16.8, P < 0.05) and a significant decrease in SV (64.8 to 59.6 deg/sec) during sleep deprivation. The SSS was found to significantly increase over the sleep deprivation period (2.05 to 5.05, P < 0.05) and was significantly correlated with the FIT-index (r > 0.66, P < 0.02)., Conclusion:  Evaluation of oculomotor responses, particularly CL and SV together with the FIT-index, might have practical applications for the assessment of an individual's state of alertness or fatigue. Correlation of the FIT-index to the SSS provides evidence for the potential usefulness of oculomotor function measurements in the detection of subjective sleepiness.

Purpose: To evaluate the feasibility of tacrolimus 0.03% dermatological ointment (Protopic) in the treatment of intractable allergic conjunctivitis., Methods: Twenty patients (mean age 10.8 years, range 6-26) with intractable allergic conjunctivitis were enrolled in an open-label study. Tacrolimus 0.03% ointment was applied into the conjunctival sac of both eyes twice daily for 8 weeks, followed by a 2-week washout period. Other ocular medications were discontinued. Conjunctivitis severity was recorded with a composite subjective/objective score (chemosis, tarsal papillary size, corneal staining, tearing, itching, and photophobia) at baseline, week 8, and after washout. Tacrolimus blood levels were measured at 2 weeks., Results: Statistically significant improvement in all categories of the conjunctivitis score was observed between baseline and the week 8 examination (p < 0.001). Adverse events were limited to local burning in one patient who discontinued treatment. Blood tacrolimus levels were mostly undetectable., Conclusions: Application of tacrolimus 0.03% dermatological ointment into the conjunctival sac appears to be effective, well tolerated, and safe in the treatment of allergic conjunctivitis refractory to traditional treatment.

Purpose: To find correlations between convergence amplitude and reading ability, as assessed in various methods., Methods: Convergence of 66 children aged 8-10 years was evaluated using 1) Non-accommodative target at near and distance; 2) A near computerized stereogram; and 3) Measurement of near point of convergence (NPC). Reading ability was examined by: 1) a reading comprehension test and 2) the Developmental Eye Movement Test (DEM), which evaluates saccadic speed and accuracy., Results: Convergence amplitudes on a distant target and on a near stereogram were correlated with the DEM score (P = 0.005/0.02, r = -0.38/-0.32 and P < 0.001/0.002, r = -0.53/-0.53 for break/recovery respectively), while NPC and convergence on a near non-accommodative target did not. Reading comprehension test score was not correlated with any of the convergence measurements., Conclusions: Convergence amplitude measured while accommodation is controlled was correlated with the DEM score, which evaluates saccadic speed and accuracy. Further study to evaluate whether improvement in vergence control improves DEM scores is needed.

Objective: To evaluate the role of angiogenesis in the pathogenesis of pterygium by comparing the expression of von-Willebrand factor (vWF) and vascular endothelial growth factor (VEGF) in pterygium, and in normal superior bulbar conjunctiva., Methods: 23 human samples from pterygium and the superior bulbar conjunctiva were stained using rabbit anti-vWF and anti-VEGF antibodies. The density of vWF and VEGF positive vessels, VEGF staining intensity and the number of VEGF positive stromal, epithelial and vascular endothelial cells were evaluated., Results: Pterygium specimens had higher average vWF and VEGF positive microvascular counts per high power field (P = 0.0012), higher average VEGF staining intensity scores in epithelial, stromal and endothelial cells (p < 0.0001) and higher VEGF positive cell counts (P < 0.0001) than normal conjuctiva., Conclusions: Over-expression of VEGF in pterygium tissue, together with the abundance of vWF-stained new vessels, may support previous suggestions that angiogenesis may play a role in the formation of pterygium.

Purpose: To determine whether parameters calculated from pupillary activity can identify subjects with sleep deprivation, and whether the objective values correlate with a subjective feeling of fatigue., Methods: pupil size in the dark was recorded continuously for 10 minutes in 12 healthy volunteers using an infrared video camera. Two recordings were made for each subject: after a full night's sleep, and after 24 hours of sleep deprivation. Several parameters calculated from pupil size and activity were analyzed and compared with a subjective rating of the state of alertness provided by the participants in each test., Results: All pupillary parameters differed significantly between alertness and fatigue (p = 0.0076-0. 0186). Changes in one of the parameters - average pupillary diameter - correlated with changes in the subjective level of sleepiness (r = -0.51, p = 0.028). Although the values of most parameters differed among subjects, an absolute value of more than 25 in one parameter, cumulative pupillary variability ratio, was always associated with sleep deprivation., Conclusion: On-line analysis of the pupillogram using the suggested parameters can be performed easily to produce a real-time assessment of an individual's state of alertness or fatigue that correlates with his/her subjective assessment of this state.