{"title":"Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood.","authors":"L. Prosperi, M. Cordella, S. Bernasconi,","doi":"10.3928/0191-3913-19770901-13","DOIUrl":"https://doi.org/10.3928/0191-3913-19770901-13","url":null,"abstract":"The cases of two children affected from LMBB syndrome are reported. The first child was six years old, suffering from obesity and mild mental retardation; the other was two years old, suffering from hexadactyly and obesity. In both children the suspected diagnosis of LMBB syndrome was verified by the electroetinographic evidence of a tapetoretinal degeneration although the fundi were atypical. A third child, the younger brother of the second case, presented an atypical pigmentation of the retina and the electroretinographic changes of a tapeto-retinal degeneration. Since tapeto-retinal degeneration, which is the most common of the main signs of the syndrome, is not always recognized by ophthalmoscopy in early childhood, the clinical value of electroretinography in making an early diagnosis is emphasized.","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 5 1","pages":"305-8"},"PeriodicalIF":0.0,"publicationDate":"1977-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70103787","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":"Photic epilepsy evoked by square-wave pulses. Report of a case studied by changing stimulus intensity and duration.","authors":"Y. Honda","doi":"10.3928/0191-3913-19770901-14","DOIUrl":"https://doi.org/10.3928/0191-3913-19770901-14","url":null,"abstract":"A spike and wave discharge of photic-evoked myoclonic epilepsy was investigated employing square-wave pulses of a stimulator having mechanical shutter, and the following conclusions were reached. The amplitude of the spike and wave complex of photogenic epilepsy depends on the intensity of photic stimulation when this is investigated in the range from 2.5 X 10(3) ergs/cm2 sec to its 4.31 log units high. A spike prior to the slow wave appears as the stimulus intensity increases. The implicit time is shortened as the intensity increases. Prolongation of the stimulus duration makes the ascending phase of the slow wave steep, and an off-response appeared when stimuli of 100 msec or longer were applied. Clinically, a biphasic myoclonic convulsion of limbs is clearly observed in on- and off-phases when stimuli of 300 msec or longer are applied. The responses become prominent when frequency increases from 0.5 to 3.0/sec.","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 5 1","pages":"309-15"},"PeriodicalIF":0.0,"publicationDate":"1977-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70103803","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":"Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood.","authors":"L Prosperi, M Cordella, S Bernasconi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The cases of two children affected from LMBB syndrome are reported. The first child was six years old, suffering from obesity and mild mental retardation; the other was two years old, suffering from hexadactyly and obesity. In both children the suspected diagnosis of LMBB syndrome was verified by the electroetinographic evidence of a tapetoretinal degeneration although the fundi were atypical. A third child, the younger brother of the second case, presented an atypical pigmentation of the retina and the electroretinographic changes of a tapeto-retinal degeneration. Since tapeto-retinal degeneration, which is the most common of the main signs of the syndrome, is not always recognized by ophthalmoscopy in early childhood, the clinical value of electroretinography in making an early diagnosis is emphasized.</p>","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 5","pages":"305-8"},"PeriodicalIF":0.0,"publicationDate":"1977-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11779471","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":"Optic atrophy in the bobble-head doll syndrome.","authors":"T H Kirkham","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 5","pages":"299-301"},"PeriodicalIF":0.0,"publicationDate":"1977-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11517610","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":"Childhood myasthenia gravis.","authors":"S. Berkovitz, M. Belkin, A. Tenenbaum","doi":"10.3928/0191-3913-19770901-03","DOIUrl":"https://doi.org/10.3928/0191-3913-19770901-03","url":null,"abstract":"A boy aged five and a girl aged one year suffering from myasthenia gravis are described. Both cases had respiratory complications and were treated erroneously until their ptosis was noticed and the diagnosis of myasthenia gravis confirmed. The etiology, types, symptomatology, and treatment of the diseases are described. Attention of the pediatric ophthalmologists is called to the fact that they should consider myasthenia gravis in the differential diagnosis of ptosis and external ophthalmoplegia.","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 5 1","pages":"269-73"},"PeriodicalIF":0.0,"publicationDate":"1977-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70103380","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":"Juvenile retinal detachment.","authors":"J. Scharf, S. Zonis","doi":"10.3928/0191-3913-19770901-12","DOIUrl":"https://doi.org/10.3928/0191-3913-19770901-12","url":null,"abstract":"Among the total of 537 patients treated for retinal detachment 27 (5.02%) were under the age of 20. In 44.44 percent of the cases, there was a history of trauma. In 58.33% of the fellow eyes in this group of patients, retinal pathology was found. This pathology is considered to be a predisposing factor and trauma itself is only a trigger in causing retinal detachment.","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"24 1","pages":"302-4"},"PeriodicalIF":0.0,"publicationDate":"1977-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70103722","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":"Corneal ulcers associated with Goldenhar syndrome.","authors":"D A Snyder, M Swartz, M F Goldberg","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Two patients with Goldenhar syndrome developed corneal ulcers. Previous acid burn of the cornea and prolonged topical corticosteroid administration occurred in Patient 1. Predisposing ocular anomalies in patients with Goldenhar syndrome include corneal hypesthesia; keratoconjunctivitis sicca, and exposure secondary to eyelid colobomas, lacrimal gland and duct anomalies, dermoids and lipodermoids, and neurologic deficits. Serious ocular morbidity may be prevented by searching for and adequately treating these predisposing factors. It is possible that embryonic events contribute to ocular complications in Goldenhar syndrome, in part, by causing hypoplasia or abnormal function of the trigeminal and facial nerves.</p>","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 5","pages":"286-9"},"PeriodicalIF":0.0,"publicationDate":"1977-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11548320","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":"Consecutive cyclic esotropia.","authors":"Y. Uemura, M. Tomita, Y. Tanaka","doi":"10.3928/0191-3913-19770901-05","DOIUrl":"https://doi.org/10.3928/0191-3913-19770901-05","url":null,"abstract":"A 12-year-old girl who developed a cyclic esotropia following strabismus surgery for intermittent exotropia at the age of eight years is presented. Unusual findings and surgical results are described. We suggest the term of \"consecutive cyclic esotropia\" for this clinical entity.","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 5 1","pages":"278-80"},"PeriodicalIF":0.0,"publicationDate":"1977-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70103388","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":"Corneal ulcers associated with Goldenhar syndrome.","authors":"D. A. Snyder, M. Swartz, M. Goldberg","doi":"10.3928/0191-3913-19770901-08","DOIUrl":"https://doi.org/10.3928/0191-3913-19770901-08","url":null,"abstract":"Two patients with Goldenhar syndrome developed corneal ulcers. Previous acid burn of the cornea and prolonged topical corticosteroid administration occurred in Patient 1. Predisposing ocular anomalies in patients with Goldenhar syndrome include corneal hypesthesia; keratoconjunctivitis sicca, and exposure secondary to eyelid colobomas, lacrimal gland and duct anomalies, dermoids and lipodermoids, and neurologic deficits. Serious ocular morbidity may be prevented by searching for and adequately treating these predisposing factors. It is possible that embryonic events contribute to ocular complications in Goldenhar syndrome, in part, by causing hypoplasia or abnormal function of the trigeminal and facial nerves.","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 5 1","pages":"286-9"},"PeriodicalIF":0.0,"publicationDate":"1977-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70103566","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 S Hoyt, F A Billson","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 4","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":"11615207","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}