Fast-phase instabilities in normally sighted relatives of congenital nystagmus patients—autosomal dominant and x-chromosome recessive modes of inheritance

Verification of inheritance in congenital nystagmus (CN) is only possible through the identification of more than one affected member in a family, since in a single case there are no accurate clinical differentiations between spontaneous and inherited CN. We performed electronystagmographic examinations (ENG) to search for abnormal involuntary eye movements as a sign of heredity in seemingly unaffected members of CN families.ENG registrations were performed under three test conditions: (1) with the subject fixating a target, (2) with the room lights off and (3) with closed eyes.Fifty normally sighted individuals (group (a) underwent the test procedure to provide a baseline of normality. Five CN families (three dominant, two sex-linked recessive) were tested as group (b). The eye movement recordings were analysed in terms of nystagmus intensity (amplitude x frequency of the involuntary saccade). In every one of the five families, abnormalities in seemingly non-affected members could be demonstrated: in four families, fastphase instabilities, in the fifth family a true (CN) (slowphase instability).All certain gene carriers were diagnosed correctly by the ENG.These findings indicate a method for detecting slightly affected members in dominant pedigrees and female gene carriers in sex-linked mode of transmission.     

47例骨髓穿刺干抽的临床和病理分析

分析４７例骨髓穿刺干抽的临床和病理改变，干抽占同期１３１９例骨穿的３．６％。根据骨髓细胞的密度和间质纤维增殖的程度，把干抽的原因分为４类：高细胞伴间质细胞增多者１９例（４２．２％）；间质细胞增多者１４例（３１．１％）；高细胞者８例（１７．８％）及低细胞者４例（８．９％）。主要疾病为：急性淋巴细胞白血病（２５．５％），急性非淋巴细胞白血病（１７．０％），慢性白血病（１４．９％），骨髓转移瘤（１０．６     

Fine structure of the anteromedial eye of the liphistiid spider,Heptathela kimurai

Background: The presence of efferent fibers in the anteromedial eye of liphistiid spiders kept in natural daily cycles of illuminance has been reported. However, this report is limited to innervation by the efferent fiber and daily rhabdomal changes, and there have been no detailed ultrastructural accounts of the eye. Methods: The fine structure of this eye was examined by electron microscopy. Results and conclusions: The eye consists of a cornea, a lens, a vitreous body, and a retina. The retina contains 13 or 14 receptor cells and glial cells. The rhabdoms are distal to the nuclei of the receptor cells. In the distal region of the receptive segment, the rhabdomeres lie in the center of the cell. In the middle region, anisomorphic rhabdoms formed by microvilli from adjacent cells are at the cell periphery. In the proximal region, the rhabdomeres are situated in the center of the cell. The ocellar nerve of the eye runs toward the protocerebrum and enters the posterior part of the first optic ganglion of the secondary eyes. Pigmented cells and nonpigmented cells are observed. The pigmented cells are located in the most lateral of the eye and cover the whole eye. The nonpigmented cells are located in the receptor cell bodies and extend to the origin of the ocellar nerve. They wind to form capillaries filled with electron-dense material. These structures are discussed in comparison with those of other spiders and other chelicerates. © 1994 Wiley-Liss, Inc.     

Ultrasound-guided in utero injections allow studies of the development and function of the eye

Ultrasound-guided in utero injections into the brain of murine embryos has been shown to facilitate gene delivery. We investigated whether these methods would allow gene transfer into ocular structures. Gene transfer using retroviral vectors or electroporation was found to be quite effective. We determined the window of time, as well as compared several strains of mice, that yield a high degree of survival and successful gene transfer. Several retroviral constructs were tested for expression and coexpresssion of two genes in retinal cell types. In addition, a retroviral vector was engineered to give cone photoreceptor-enriched expression, and a retroviral vector was demonstrated to provide RNAi-mediated loss-of-function. These methods enable access to early ocular structures and provide a more rapid method of assessment of gene and promoter function than possible using genetically engineered mice.     

Inheritance of ocular dominance

Evidence for an inherited component in the determination of the preferred eye in sighting dominance is presented that replicates the earlier findings by Merrell (1957). Significantly more left-sighting-preferent individuals were found in the progeny of R×L and L×L matings than in the R×R matings.The preparation of this study was supported by National Institute of Mental Health Grant MH-21989.     

Smooth eye movements evoked by electrical stimulation of the cat's superior colliculus

Head-fixed gaze shifts were evoked by electrical stimulation of the deeper layers of the cat superior colliculus (SC). After a short latency, saccades were triggered with kinematics similar to those of visually guided saccades. When electrical stimulation was maintained for more than 150–200 ms, postsaccadic smooth eye movements (SEMs) were observed. These movements were characterized by a period of approximately constant velocity following the evoked saccade. Depending on electrode position, a single saccade followed by a slow displacement or a staircase of saccades interspersed by SEMs were evoked. Mean velocity decreased with increasing deviation of the eye in the orbit in the direction of the movement. In the situation where a single evoked saccade was followed by a smooth movement, the duration of the latter depended on the duration of the stimulation train. In the situation where evoked saccades converged towards a restricted region of the visual field (goal-directed or craniocentric saccades), the SEMs were directed towards the centre of this region and their mean velocity decreased as the eye approached the goal. The direction of induced SEMs depended on the site of stimulation, as is the case for saccadic eye movements, and was not modified by stimulation parameters (place code). On the other hand, mean velocity of the movements depended on the site of stimulation and on the frequency and intensity of the current (rate code), as reported for saccades in the cat. The kinematics of these postsaccadic SEMs are similar to the kinematics of slow, postsaccadic correction observed during visually triggered gaze shifts of the alert cat. These results support the hypothesis that the SC is not exclusively implicated in the control of fast refixation of gaze but also in controlling postsaccadic conjugate slow eye movements in the cat.     

Cytology and intrinsic organization of the perihypoglossal nuclei in the cat

The morphology of the neurons in the perihypoglossal nuclei (nucleus prepositus, nucleus intercalatus, and nucleus of Roller) of the cat was studied in normal Nissl material, and by intracellular injection of horseradish peroxidase. The neurons in the nucleus prepositus were morphologically heterogeneous. Many of the cells in the ventromedial part of the caudal prepositus had relatively large somata, and complex dendritic trees which arose from numerous proximal dendrites and ramified extensively in the ventromedial aspect of the prepositus. These neurons had thick axons which typically did not give rise to local collaterals. The cells in the dorsolateral part of the caudal prepositus tended to have small somata, and dendritic trees which arborized in that region of the nucleus. The axons of these small cells frequently gave rise to local collaterals which terminated in the prepositus. Most of the cells in the prepositus had medium-sized somata and relatively few dendrites which branched in an isodendritic manner and extended for long distances, frequently leaving the nucleus. These "principal" prepositus neurons had axons which arborized unilaterally, and often gave rise to collaterals which terminated in either the ipsilateral or contralateral prepositus. The neurons in the nucleus of Roller and nucleus intercalatus which were intracellularly injected with horseradish peroxidase resembled the multidendritic and small prepositus cells, respectively. The intrinsic connectivity of the perihypoglossal nuclei was also studied by injecting horseradish peroxidase or 3H-leucine into the prepositus nucleus. The results of these experiments suggest that the perihypoglossal nuclei are highly interconnected bilaterally, although the large cells in the ventromedial prepositus and the nucleus of Roller contribute little to these intrinsic connections, and are not major recipients of intrinsic inputs. On the other hand, the magnitude of the reciprocal connections between the prepositus and the nucleus intercalatus suggests that they are functionally related.     

Are eye movement evoked potentials different from pattern reversal evoked potentials?

The averaged lambda wave elicited by saccadic eye movements across a checkerboard pattern has been reported to differ from checkerboard reversal evoked reponses, even when the electroencephalographic responses were corrected for the artefact caused by the movement of the dipole moment of the eye itself. Because of these differences it was suggested that the recording of the lambda wave might provide extra information in pathological circumstances. We performed experiments in which the parameters of the pattern (high contrast checkerboard pattern, 20 checks, large field 72 × 72 degrees) shift across the retina were carefully adjusted. For instance, eye movements were made across an integer and odd number of checks in order to mimic the pattern reversal. Furthermore, the timing of the pattern movement in the pattern reversal condition was adjusted so as to simulate the saccadic eye movement. The results seem to suggest that the reported dissimilarities between pattern reversal and eye movement evoked responses can be accounted for by the small differences of the retinal shift in the two conditions.     

Saccadic anomalies: vergence induces large departures from ball-and-socket behavior

The configuration of muscular forces, which maintains a given orientation of the eye, varies with vergence state. As a consequence, changes in vergence produce both static and dynamic violations of simple ball-and-socket behavior: during strong convergence, the entire eye is displaced temporally within its orbit at steady state by as much as 200 microns; and the axis of ocular rotation for small horizontal saccades is consistently displaced forward within the globe by an average of about 1 mm. These phenomena occur regardless of whether vergence is maintained by accommodation or by binocular disparity. Hence, systematic errors of as much as a full degree can arise in measurement of vergence movement, unless monitoring methods are used which are insensitive to translational motion. The observed displacement on the axis of rotation for saccades may be involved in subjective shrinkage of visual targets during convergence ("experimental micropsia ").     

幼兔近视模型及大光明护眼液的疗效

目的 :探讨学生近视眼的发病机制和有效治疗药物。方法 :选用 2 0只新西兰纯种幼兔建立近视模型 ,然后分别采用2种药物和生理盐水治疗。结果 :大光明护眼液治疗组的平均屈光度 (D)值为 (+ 2 5 0± 0 6 8)、平均裸眼觅食距离 (cm)值为(2 80 0 0± 2 7 30 )、平均体重 (g)增长值为 (72 6 0 0± 31 30 ) ;而珍视明滴眼液治疗组和生理盐水治疗组近视屈光度 (D)值分别为(+ 1 6 6± 0 2 9)和 (+ 0 85± 0 42 ) ,平均裸眼觅食距离 (cm)分别为 (2 5 6 0 0± 5 4 48)和 (196 0 0± 76 48) ,平均体重 (g)增长分别为 (6 2 2 0 0± 31 94)和 (5 6 0 0 0± 6 2 85 )。结论 :(1)长期限制视距、微弱光线照射和经常习惯性近距离视物是造成近视眼的直接因素 ;(2 )采用大光明护眼液治疗近视眼的疗效明显 ,优于珍视明滴眼液和生理盐水治疗组 (P <0 0 1)。