J. Delleman, E. Bleeker-Wagemakers, A. W. V. VAN VEELEN
{"title":"Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome.","authors":"J. Delleman, E. Bleeker-Wagemakers, A. W. V. VAN VEELEN","doi":"10.3928/0191-3913-19770701-05","DOIUrl":"https://doi.org/10.3928/0191-3913-19770701-05","url":null,"abstract":"Three families with a total of five patients with Lowe's syndrome are described. We tried to trace female heterozygotes by ophthalmological abnormalities in order to realize prevention of this serious X-chromosomal recessive disease. Of the fourteen female relatives examined, eight showed pathological opacities of the lens, two of these being proven heterozygotes. In our opinion, in Lowe's syndrome, examination of the eyes can play an important role in the detection of heterozygotes.","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 4 1","pages":"205-12"},"PeriodicalIF":0.0,"publicationDate":"1977-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70103130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Psoriasis associated with anterior uveitis.","authors":"E. Meyer, B. Miller, S. Zonis, O. Gidoni","doi":"10.3928/0191-3913-19770701-06","DOIUrl":"https://doi.org/10.3928/0191-3913-19770701-06","url":null,"abstract":"A patient with psoriasis and anterior uveitis is described. In her family the two entities of iridocyclitis and psoriasis occurred separately in two generations and appeared associated in the third generation. Tissue typing of the family revealed HL-A 27 antigen in two members and HL-A 17 in the other two members. The possible relevance of HL-A antigens to the two clinical entities is discussed.","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 4 1","pages":"213-4"},"PeriodicalIF":0.0,"publicationDate":"1977-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70103173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Uncommon ocular changes in Down's syndrome (mongolism).","authors":"K. Awan","doi":"10.3928/0191-3913-19770701-07","DOIUrl":"https://doi.org/10.3928/0191-3913-19770701-07","url":null,"abstract":"A one-year-old White female mongoloid child was seen with typical palpebral fissures, esotropia, myopic astigmatism, and nystagmus. Additional uncommon ocular findings included ganglionic neuroretinal hypoplasia (hypoplasia of the optic nerve) and bilateral congenital impatency of the nasolacrimal duct. An active search for these ocular changes is recommended in cases of Down's syndrome.","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 4 1","pages":"215-6"},"PeriodicalIF":0.0,"publicationDate":"1977-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70103181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Buphthalmos in neurofibromatosis: is it an expression of regional giantism?","authors":"C. Hoyt, F. Billson","doi":"10.3928/0191-3913-19770701-11","DOIUrl":"https://doi.org/10.3928/0191-3913-19770701-11","url":null,"abstract":"A case of buphthalmos and regional giantism in neurofibromatosis with the characteristics of the Francois syndrome is reported. Difficulties of early diagnosis are emphasized. A discussion of the mechanisms which may produce buphthalmos in neurofibromatosis is presented. We propose that buphthalmos in neurofibromatosis may be primarily an expression of regional giantism rather than a consequence of uncontrolled intraocular pressure.","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 4 1","pages":"228-34"},"PeriodicalIF":0.0,"publicationDate":"1977-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70103273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Nonpulsatile exophthalmos in carotid-cavernous sinus fistula.","authors":"W L Broughton, W Gee, J Doppman, A Ommaya","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>An unusual case of carotid artery-cavernous sinus fistula with pulseless exophthalmos is presented in a two and one-half year old child. Though exophthalmos and increased episcleral venous distention were present, the ophthalmic artery pressure was not significantly altered as determined by ocular pneumoplethysmography. Consequently there was no evidence of hypoxic sequelae which frequently occur with this arteriovenous shunt. The combined use of arteriography and ocular pneumoplethysmography is advocated for determining and characterizing the presence of significant intracranial arteriovenous disease.</p>","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 4","pages":"221-4"},"PeriodicalIF":0.0,"publicationDate":"1977-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12079864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Ocular pathology in infantile type of neuronal ceroid-lipofuscinosis.","authors":"A Tarkkanen, M Haltai, L Merenmies","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Ocular pathology of the infantile type of ceroid-lipofuscinosis is reported. The material comprised 10 eyes of five autopsies in which the diagnosis had been confirmed by neuropathological autopsy. The condition is clinically characterized by its age of onset from eight to 18 months, rapid psychomotor retardation, ataxia, and muscular hypotony. The patients become blind by the age of two years with optic atrophy and retinal hypopigmentation as the main ophthalmoscopic features. In the retina a complete disappearance of the visual cells, the bipolar cells and the ganglion cells was observed with marked reactive gliosis. Loss of pigment from the retinal pigment epithelium had taken place. The optic nerve showed atrophy and gliosis with complete loss of myelin sheaths. Granular deposits stainable with PAS, and Sudan black B stains were observed in the nonpigmented ciliary epithelium of the pars plana, the pigment epithelium as well as the glial cells of the optic nerve. Granular deposits were also noted in the cytoplasm of large pigmentladen macrophages in the retina. Electronmicroscopy revealed osmiophilic granular deposits in the cytoplasm of many retinal glial cells.</p>","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 4","pages":"235-41"},"PeriodicalIF":0.0,"publicationDate":"1977-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12077754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Psoriasis associated with anterior uveitis.","authors":"E Meyer, B Miller, S Zonis, O Gidoni","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A patient with psoriasis and anterior uveitis is described. In her family the two entities of iridocyclitis and psoriasis occurred separately in two generations and appeared associated in the third generation. Tissue typing of the family revealed HL-A 27 antigen in two members and HL-A 17 in the other two members. The possible relevance of HL-A antigens to the two clinical entities is discussed.</p>","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 4","pages":"213-4"},"PeriodicalIF":0.0,"publicationDate":"1977-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11765299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Detection of learning disabilities using the visually evoked cortical potential.","authors":"J P Lux","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>It was proposed that the Visually Evoked Cortical Potential (VECP) could be used to detect learning disabilities. It was found that a comparison of the responses from the two parietal lobes to a checkerboard pattern could provide such a detector. The latency differences had a correlation of .79 with scores on a test of learning disabilities for high school aged children.</p>","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 4","pages":"248-53"},"PeriodicalIF":0.0,"publicationDate":"1977-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12077753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Electron microscopic study of the orbital lesion of Hand-Schüller-Christian disease.","authors":"T. Amemiya, H. Yoshida","doi":"10.3928/0191-3913-19770701-13","DOIUrl":"https://doi.org/10.3928/0191-3913-19770701-13","url":null,"abstract":"The orbital bone lesion of a patient with Hand-Schüller-Christian disease was examined by electron microscopy. Vacuoles in the cytoplasm of foam cells contained granules which were shown by histochemical examination to be cholesterin. Langerhans cell granules in the histiocytes of Hand-Schüller-Christian disease showed a close resemblance to those in Langerhans cell of the epidermis, eosinophilic granuloma and Letterer-Siwe disease. Charcot-Leyden crystals appeared to be formed in the lysosomes of histiocytes in Hand-Schüller-Christian disease. From histopathological and cytological points of view, eosinophilic granuloma, Hand-Schüller-Christian disease and Letterer-Siwe disease are classified as histiocytosis X. The simultaneous appearance of Langerhans cell granules and Charcot-Leyden crystals is specific in histiocytosis X.","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 4 1","pages":"242-7"},"PeriodicalIF":0.0,"publicationDate":"1977-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70103320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Pediatric dosing considerations in ophthalmology--dosage adjustments based on aqueous humor volume ratio.","authors":"T. F. Patton","doi":"10.3928/0191-3913-19770701-15","DOIUrl":"https://doi.org/10.3928/0191-3913-19770701-15","url":null,"abstract":"By simplifying a pharmacokinetic treatment, an equation can be derived which predicts that equal areas under aqueous humor concentration-time profiles can be obtained by administering a dose to infants which is some fraction of the normal adult dose. This fraction is obtained by dividing the aqueous humor volume of the child by that of the adult. This theory has been tested using rabbits as an experimental model. Using literature values for aqueous humor volumes, it was possible to calculate what fraction of a dose of pilocarpine administered to 20-day-old rabbits would result in the same ocular concentrations of drug as in 60-day-old rabbits. When the experiment was performed, agreement between predicted and experimental values was excellent. Although admittedly an oversimplified treatment, these results are the first step in a comprehensive pharmacokinetic model which should result in a more rational approach to ophthalmic drug delivery in infants and children.","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 4 1","pages":"254-6"},"PeriodicalIF":0.0,"publicationDate":"1977-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70103342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}