Alagille syndrome and optic pit

Background Optic disc anomalies are frequently associated with Alagille syndrome. We report here the first case of a patient with Alagille syndrome combined with optic pit and serous macular detachment. Methods A male patient with Alagille syndrome was referred from the pediatric hepatology department for investigation of visual loss in the right eye. Anterior segment examination showed evidence of posterior embryotoxon, confirmed by gonioscopic evaluation. Dilated fundus examination revealed serous macular detachment and optic pit. Results OCT 3 scans confirmed the clinical findings. Conclusions Optic pit is uncommon and should prompt a search for genetic disorders or development abnormalities. The association between the two syndromes in this patient might be due to failure of correct neuroectodermal development, for which a common genetic pathway is likely.     

New metrics for analysis of dendritic branching patterns demonstrating similarities and differences in ON and ON-OFF directionally selective retinal ganglion cells.

The morphology and dendritic branching patterns of retinal ganglion cells have been studied in Golgi-impregnated, whole-mount preparations of rabbit retina. Among a large number of morphological types identified, two have been found that correspond to the morphology of ON and ON-OFF directionally selective (DS) ganglion cells identified in other studies. These two kinds of DS ganglion cell are compared with each other, as well as with examples of class I, class II, and class III cells, defined here with reference to our previous studies. Cell body, dendritic field size and branching pattern are analyzed in this paper and levels of dendritic stratification are examined in the following paper. ON DS ganglion cells are about 10% larger in soma size and about 5 times the dendritic field area of ON-OFF DS ganglion cells, when compared at the same retinal location. These two morphological types of ganglion cell can be said to define the upper and lower bounds of an intermediate range of cell body and dendritic field sizes within the whole population of ganglion cells. Nevertheless, in previous physiological studies receptive field sizes of the two types were shown to be similar. This discrepancy between morphological and physiological evidence is considered in the Discussion in terms of a model of the excitatory receptive field of ON-OFF DS ganglion cells incorporating starburst amacrine cells. A new set of metrics is introduced here for the quantitative analysis and characterization of the branching pattern of neuronal arborizations. This method compares the lengths of terminal and preterminal dendritic branches (treated separately), as a function of the distances of their origins from the soma, viewed graphically in a two-dimensional scatter plot. These values are derived from computer-aided 3D logging of the dendritic trees, and distance from the soma is measured as the shortest distance tracked along the dendritic branches. From these metrics of the "branch length distributions," scale-independent branching statistics are derived. These make use of mean branch lengths and distances, slopes of lines fitted to the distributions, and elliptical indices of scatter in the distributions. By these measures, ON and ON-OFF DS ganglion cells have similar branching patterns, which they share to varying degrees with functionally unrelated class III.1 ganglion cells. The scale of the branching patterns of ON and ON-OFF DS cells and their degree of uniformity are different, however.(ABSTRACT TRUNCATED AT 400 WORDS)     

Suppression scotomas in primary microstrabismus — a perimetric artefact

Static perimetry with stereoscopic targets, stereo-perimetry, was performed on eight patients with primary microstrabismus to find out how strabismic subjects see under natural conditions, i.e. how they ordinarily make use of their squinting eye. In all cases, suppression scotomas were detectable using dissociating perimetric techniques. By means of stereoperimetry, however, the scotomas were not detectable. On the contrary, stereo-acuity was always best in the center of the suppression scotomas. This result indicates that suppression scotomas of the microstrabismic subjects examined here represented perimetric artefacts. In microstrabismic pateints, the cooperation of the deviated eye in the central visual field is probably much better than has previously been thought.     

Melanotic Neuroectodermal Tumor of Infancy Occurring in the Left Thigh of a 6-Month-Old Female Infant

We report an exceptional case of melanotic neuro-ectodermal tumor of infancy (MNTI) occurring in the soft tissue of the left thigh of a 6-month-old female infant. The tumor consisted mainly of small round cells (neuroblasts) arranged in cords and nests that were separated by broad fibrovascular areas. In addition, there were a few medium-sized tumor cells containing melanin pigment (melano-cytic cells) that in electron microscopy contained melanosomes as well as tonofilaments. Both tumor cell types immunostained for neuron-specific enolase (NSE) and vimentin, and the melanocytic cells reacted additionally with the antikeratin antibody KL1. Within the tumor stroma, neurofilament- and S-100-protein-positive neural cells and vimentin- and desmin-positive myofibroblasts were seen. Although densecore granules were demonstrated ultrastructurally in some neuroblasts, no immunostaining for chromogranin A, Leu-7, serotonin, or regulatory peptides was found. MNTI located in an extremity can be confused with malignant small round and blue cell tumors of childhood. The distinction between MNTI and these tumors is of clinical significance because MNTI, in most cases, is a benign tumor that, in contrast to the latter, can be cured by complete excision. The presence of a biphasic cell population with neuroblasts and melanocytic cells must be considered the main diagnostic feature of MNTI.     

Pigmentary degeneration indwed by N-methyl-N-nitrosourea and the fate of pigment epithelial cells in the rat retina

Pigmentary degeneration of the retina was induced by a single intraperitoneal Injection of 75mgkg of N-methyl-N-nitrosourea (MNU) In female Brown-Norway colored rats at 50 days of age, which were then observed at 24, 48 and 72 h and 7, 21,35 and 150 days after the treatment. MNU-treated rats showed selective destruction of the photoreceptor cells by an apoptotic mechanlsm 24 h after the treatment, and the destruction was completed by day 7. During the photoreceptor cell degeneration, proliferation of Miller cells and infiltratlon of macrophages was prominent 72h and 21 days aRttr the treatment, respectively. Müller cell proliferation and macrophage infiltratbn corresponded to degenerative photo-receptor cell phagocytosis, and prollferating Müller cell processes responded to stabilize the damaged retina. Pigment epithelial cell detachment from the Bruch's membrane was seen 72 h after the treatment, and migration within all layers of the retina was seen at day 7 when photoreceptor Cells were lost. At 21, 35 and 150 days after the treatment, lack of photoreceptor cells and deposition of pigment epithelial cells within the retina but not in contact to vascular endothe-lial cells were characteristic. MNU-induced photoreceptor apoptosis followed by Miiller cell and macrophage reaction then pigment epithellal cells deposition withln the retina partially resembles retinitis pigmentosa in humans.     

The ophthalmic artery and its branches,measurements and clinical importance

Summary Seventy-one Caucasian orbits (36 right, 35 left) were studied by dissection. The diameter of the ophthalmic a. (2 mm from the origin) was 1.54 ± 0.04 mm (male) and 1.31 ± 0.05 mm (female). In individual cases, there were no significant differences in vessel diameter between the right and left sides but, differences in vessel diameter between males and females were more commonly observed in the arteries which leave the orbit (extraorbital group), the individual vessels having a larger diameter in males. The incidence of the ophthalmic a. passing in the orbit medially under the optic n. was 18.6%. The lacrimal a. was observed to arise from the ophthalmic a. in only 82.5% of the cases examined, 15.9% of the cases showed the origin to be at the anastomotic branch of the middle meningealThis article is dedicated to Pr Dr Hoepke on occasion of his 100th birthday     

A patient homozygous for the SCA6 gene with retinitis pigmentosa

The present authors studied a 55-year-old-patient homozygous for the SCA6 gene who experienced frequent attacks of positional vertigo at 37 years of age with subsequent staggering gait and night blindness. Retinitis pigmentosa (RP), as well as cerebellar ataxia and vertical antidirectional nystagmus, were detected. The subject's parents were first cousins, and two of his three male cousins, whose parents were also first cousins, had RP without ataxia or nystagmus. The numbers of CAG repeats in the expanded alleles of the SCA6 gene found by molecular analysis were 21 and 21. The genetic results were negative for SCA1, SCA2, SCA3, SCA7 and dentatorubral pallidoluysian atrophy. The retinal degeneration in this patient is most likely to be secondary to a genetic disorder of autosomal or X-linked recessive inheritance rather than SCA6. Other reported cases of patients homozygous for the SCA6 gene are also reviewed.     

Rhodopsin resynthesis in rats with hereditary retinal dystrophy

Rhodopsin resynthesis was studied in vivo in the retina and optic cup of two strains of rats with hereditary dystrophy: Campbell albino rats and Hunter rats with pigmented eyes. Wistar and MSU rats, respectively, were used as the controls. The rate of reduction of rhodopsin after its decolorization in the retina in the affected animals was shown to be much slower than in healthy animals and to decrease as the disease developed. In the period of marked morphological changes, only 50% of the decolorized pigment was reduced during 2 h of dark adaptation (the time for complete regeneration of rhodopsin in healthy rats). In Campbell and Hunter rats the breakdown and resynthesis of rhodopsin take place not only in the retina, but also in the layer of fragments of outer segments of the photoreceptors, located between cells of the pigmented epithelium and the retina.Laboratory of the Biochemical Basis of Research, I. M. Sechenov Institute of Evolutionary Physiology and Biochemistry, Academy of Sciences of the USSR, Leningrad. Laboratory of Cyctochemistry and Molecular Biology, Institute of Human Morphology, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR S. E. Severin.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 85, No. 2, pp. 167–170, February, 1978.