scholarly journals Ophthalmic Manifestation and Pathological Features in a Cohort of Patients With Linear Nevus Sebaceous Syndrome and Encephalocraniocutaneous Lipomatosis

2021 ◽  
Vol 9 ◽  
Author(s):  
Yan Yan ◽  
Siyi Zhang ◽  
Henghua Zhou ◽  
Yixiong Zhou ◽  
Yao Fu
Keyword(s):  
Optic Nerve ◽  
Case Series ◽  
Optic Nerve Hypoplasia ◽  
Ocular Involvement ◽  
Pathological Features ◽  
Encephalocraniocutaneous Lipomatosis ◽  
Department Of Ophthalmology ◽  
Study Population ◽  
Nevus Sebaceous ◽  
Craniofacial Defects

Purpose: This study aimed to figure out the association between ophthalmic and pathological features in patients with Linear Nevus Sebaceous Syndrome (LNSS) and in patients with Oculoectodermal Syndrome—Encephalocraniocutaneous Lipomatosis (OES-ECCL).Methods: It is a retrospective, non-consecutive, observational case series. Twenty-seven patients (12 with LNSS and 15 with OES-ECCL, 41 eyes) referred to the Department of Ophthalmology of the Shanghai Ninth People's Hospital between 2000 and 2020 were included. The mean age of the study population for the first-time consult was 5.7 years, ranging from 3 months to 34 years. Clinical notes, pathological records, and imaging findings were reviewed in all the patients.Results: Fourteen (51.9%) cases showed bilateral ocular involvement. Epibulbar choristomas were seen in all the patients. All the lesions involved the conjunctiva and cornea simultaneously. Multiple lesions were observed in 12 eyes. Of the 14 excised lesions, 11 were found to be complex choristomas. Further, 24 (89%) patients had eyelid coloboma. Also, 13 patients (48%) were diagnosed with strabismus, and 12 patients (44%) had abnormal fundus imaging, including optic nerve hypoplasia.Conclusions: LNSS and OES-ECCL shared common ophthalmic features, including epibulbar choristomas with distinctive characteristics, eyelid coloboma, strabismus, and optic nerve hypoplasia. The complex choristoma was found to be associated with the diseases. These specific patterns can be diagnostic clues to distinguish them from other syndromes, such as craniofacial defects, and to remind ophthalmologists that such patients require additional dermatological and neurological examinations and referral. Moreover, a thorough evaluation of ocular conditions is imperative for early interventions.

scholarly journals Endocrine Dysfunction in Children with Zika-Related Microcephaly Who Were Born during the 2015 Epidemic in the State of Pernambuco, Brazil

Viruses ◽  
2020 ◽  
Vol 13 (1) ◽  
pp. 1
Author(s):  
Andréia Veras Gonçalves ◽  
Demócrito de B. Miranda-Filho ◽  
Líbia Cristina Rocha Vilela ◽  
Regina Coeli Ferreira Ramos ◽  
Thalia V. B. de Araújo ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Viral Infections ◽  
Case Series ◽  
Optic Nerve Hypoplasia ◽  
Endocrine Dysfunction ◽  
Careful Monitoring ◽  
Early Puberty ◽  
Growth Impairment ◽  
Appropriate Treatment ◽  
The Brain

Congenital viral infections and the occurrence of septo-optic dysplasia, which is a combination of optic nerve hypoplasia, abnormal formation of structures along the midline of the brain, and pituitary hypofunction, support the biological plausibility of endocrine dysfunction in Zika-related microcephaly. In this case series we ascertained the presence and describe endocrine dysfunction in 30 children with severe Zika-related microcephaly from the MERG Pediatric Cohort, referred for endocrinological evaluation between February and August 2019. Of the 30 children, 97% had severe microcephaly. The average age at the endocrinological consultation was 41 months and 53% were female. The most frequently observed endocrine dysfunctions comprised short stature, hypothyroidism, obesity and variants early puberty. These dysfunctions occurred alone 57% or in combination 43%. We found optic nerve hypoplasia (6/21) and corpus callosum hypoplasia (20/21). Seizure crises were reported in 86% of the children. The most common—and clinically important—endocrine dysfunctions were pubertal dysfunctions, thyroid disease, growth impairment, and obesity. These dysfunctions require careful monitoring and signal the need for endocrinological evaluation in children with Zika-related microcephaly, in order to make early diagnoses and implement appropriate treatment when necessary.

scholarly journals Ocular syphilis: Case Series (2000–2015) from Two Tertiary Care Centers in Montreal

2017 ◽  
Vol 4 (suppl_1) ◽  
pp. S105-S105
Author(s):  
Julie Vadboncoeur ◽  
Yasmine Rabia ◽  
Marie-Josée Aubin ◽  
Annie-Claude Labbé ◽  
Laurence Jaworsky ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Tertiary Care ◽  
Case Series ◽  
Penicillin G ◽  
Ocular Involvement ◽  
Reference Laboratory ◽  
Ocular Syphilis ◽  
Nerve Involvement ◽  
Interstitial Keratitis ◽  
Optic Nerve Involvement

Abstract Background In the past 15 years, a recrudescence of syphilis was observed in Canada, along with a surge in ocular syphilis cases. Without treatment, ocular syphilis can have serious consequences potentially leading to blindness. Our goal was to describe the demographics, clinical presentations, proportion of co-infection with HIV, treatments and visual outcomes of ocular syphilis cases. Methods Patients with a confirmed positive syphilis serology between 2000 and 2015 were identified through the reference laboratory database. A retrospective chart review was performed for those who visited the ophthalmology clinic of Hôpital Maisonneuve-Rosemont or Hôpital Notre-Dame to identify ocular syphilis cases. Results Among the 119 patients (174 eyes) identified (2.5% of the population screened), 80% were male; of which 63% were MSM. Mean presenting logMAR visual acuity was 0.70 (20/100 Snellen) and unilateral ocular involvement occurred in 54%. Ocular manifestations included interstitial keratitis (24 eyes), anterior uveitis (37 eyes), intermediate uveitis (17 eyes), posterior uveitis (31 eyes), panuveitis (27 eyes), isolated optic nerve involvement (25 eyes), and others (12 eyes) including VI nerve palsy, scleritis, and episcleritis. Cerebrospinal fluid (CSF) examination was done in 65 (55%) patients. Of those, VDRL was positive in 14 (22%) patients; white blood cells and proteins were elevated in, respectively, 28 (43%) and 39 (60%) of patients. HIV status was unknown in 39 (33%) patients; among those whose serology were performed (or previous status was known), 38 (48%) were HIV infected. Intravenous aqueous penicillin G was administered in 69 (58%), intramuscular benzathine penicillin in 25 (21%) and other antibiotics, mainly due to allergy, in three (3%) patients. Treatment allowed a visual improvement of –0.22 logMAR (gain of five lines on Snellen chart) after a mean follow-up period of 19 months. Conclusion Syphilis can manifest with a widely diversified array of ocular presentations, especially uveitis and optic nerve involvement. Therefore it is primordial to keep this diagnosis in mind when facing high-risk patients with ocular symptoms. It is of utmost importance that clinicians improve rates of lumbar puncture, HIV screening and intraveinous penicillin treatment when managing ocular syphilis. Disclosures All authors: No reported disclosures.

scholarly journals Retinoblastoma: An institutional experience

2015 ◽  
Vol 5 (9) ◽  
pp. 723-726
Author(s):  
S Karki ◽  
P Upadhyaya ◽  
M Agarwal ◽  
KK Maharjan ◽  
P Lavaju
Keyword(s):  
Optic Nerve ◽  
High Risk ◽  
Tumor Staging ◽  
Tertiary Care ◽  
Prognostic Significance ◽  
Routine Practice ◽  
Ocular Involvement ◽  
Department Of Ophthalmology ◽  
Nerve Invasion ◽  
Choroidal Invasion

Background: This article aims to describe histopathologic high risk tumor characteristics in our patient population of retinoblastoma. It is based on consensus criteria for definitions of choroidal and optic nerve invasion as outlined in The International RetinoblastomaStaging Working Group (IRSWG) 2009.Materials and Methods: Fifty histopathologically diagnosed cases of retinoblastoma were archived from records of Pathology department during years 2004 to 2014. Re-evaluation of slides to identify choroidal and optic nerve invasion as per IRSWG along with Pathologic tumor staging was done. Data were entered into Microsoft excel sheets and results expressed in percentages. Department of Ophthalmology was consulted for recurrence of Retinoblastoma.Results: Among fifty cases, Choroidal invasion was absent in 62% cases. Minimal invasion (<3mm) was seen in 18% cases, massive (>3mm) in 14% cases and extra ocular involvement in 6% cases. The optic nerve was free of tumor in more than three forth of the cases (78%). Prelaminar and retro laminar involvement of optic nerve was observed in 6% and 10% cases respectively. Intraocular spread of tumor was observed in 6% of cases. The cut margin of optic nerve was involved in 42% while it was free of tumor in 58% of cases. Significant number of tumours were pathologically classified as pT1 (58%) followed by pT2a (22%). pT3a and pT4b were found in 6% each and pT3b and pT4a were found in 4% each. Recurrence was observed in two cases of PT3a and one of pT4b.Conclusion: We conclude identifying low percentages of high risk charateristics in a retrospective histologic experience with Retinoblastoma. Recurrence observed in two tumours staged pT3a sheds light on prognostic significance of reporting massive choroidal invasion despite free cut margin. These observations call for routine practice of standardized histopathologic reporting and processing of enucleated eye samples at our tertiary care centre.Journal of Pathology of Nepal (2015) Vol. 5, 723-726

Fetal Alcohol Syndrome—An Ophthalmological and Socioeducational Prospective Study

PEDIATRICS ◽  
1996 ◽  
Vol 97 (6) ◽  
pp. 845-850
Author(s):  
Kerstin Strömland ◽  
Ann Hellström
Keyword(s):  
Optic Nerve ◽  
Fetal Alcohol Syndrome ◽  
Alcohol Exposure ◽  
Social Situation ◽  
Educational Status ◽  
Optic Nerve Hypoplasia ◽  
Ocular Involvement ◽  
Long Term Effects ◽  
Fetal Alcohol

Background. The eye is a sensitive indicator of adverse effects of prenatal alcohol exposure. Anomalies of the eyes and their adnexa are known to be associated with the fetal alcohol syndrome (FAS), although long-term effects of these malformations are unknown. Design. A prospective ophthalmologic follow-up (median, 11 years; range, 4 to 19 years) was performed in 25 children with FAS. Their social situation and educational status were also investigated. Results. All but one of the children had ophthalmologic abnormalities. Fundus anomalies were observed in 23 children, of whom 19 had optic nerve hypoplasia. Thirteen children had concomitant strabismus. Microphthalmos, buphthalmos, phthisis, microcornea, coloboma of the iris and uvea, blepharoptosis, cataract, persistent hyperplastic primary vitreous, and nystagmus were observed in single cases. The dysmorphology of the eyes remained unchanged during the follow-up period. In 2 children with severe mental retardation and, initially, very poor vision, the severe visual handicap persisted. Seventeen children had an initial visual acuity ≥20/70, which remained unchanged in 10 children and improved in 7 children, despite the presence of optic nerve hypoplasia in 14 of the children. Ten mothers died, 8 of them because of alcohol-related diseases, and only 4 of the mothers were able to take care of their children. Sixteen children went to schools for the mentally retarded, and only 3 children had a normal school education without extra teaching assistance. Conclusions. In children with FAS, the major sequela, ie, brain damage, remains despite extensive medical, educational, and social support. The presence of ophthalmic signs, which persisted but did not deteriorate during the follow-up period, strengthens the diagnosis of FAS, and the high frequency of ocular involvement indicates the importance of a complete ophthalmologic evaluation in children with FAS.

Optic Nerve Hypoplasia and the Syndrome of Nevus Sebaceous of Jadassohn

Ophthalmology ◽  
1987 ◽  
Vol 94 (12) ◽  
pp. 1570-1576 ◽  
Author(s):  
Barrett Katz ◽  
Clayton A. Wiley ◽  
Vincent W. Lee
Keyword(s):  
Optic Nerve ◽  
Optic Nerve Hypoplasia ◽  
Nevus Sebaceous

Cannabis-associated arteritis

VASA ◽  
2010 ◽  
Vol 39 (1) ◽  
pp. 43-53 ◽  
Author(s):  
Grotenhermen
Keyword(s):  
Systematic Review ◽  
Case Reports ◽  
Case Series ◽  
Cardiovascular Effects ◽  
Causative Factor ◽  
Cannabis Use ◽  
Thromboangiitis Obliterans ◽  
Pathological Features ◽  
Scientific Support ◽  
Clinical And Pathological Features

Background: To investigate the hypothesis that cases of arteritis similar to thromboangiitis obliterans (TAO) and associated with the use of cannabis were caused by cannabis or THC (dronabinol), or that cannabis use is a co-factor of TAO. Patients and methods: A systematic review on case reports and the literature on so-called cannabis arteritis, TAO, and cardiovascular effects of cannabinoids was conducted. Results: Fifteen reports with 57 cases of an arteritis associated with the use of cannabis and two additional case series of TAO, in which some patients also used cannabis, were identified. Clinical and pathological features of cannabis-associated arteritis do not differ from TAO and the major risk factor of TAO, tobacco use, was present in most, if not in all of these cases. The proposed pathophysiological mechanisms for the development of an arteritis by cannabis use are not substantiated. Conclusions: The hypothesis of cannabis being a causative factor or co-factor of TAO or an arteritis similar to TAO is not supported by the available evidence. The use of the term “cannabis arteritis” should be avoided until or unless more convincing scientific support is forthcoming.

Unilateral optic nerve hypoplasia in a case of septo-optic dysplasia

2021 ◽  
Author(s):  
R. El Hachimi ◽  
S. Benchekroun ◽  
R. El Hadiri ◽  
L.O. Cherkaoui
Keyword(s):  
Optic Nerve ◽  
Optic Nerve Hypoplasia

Long-Term Evaluation of the Roux-Elmslie-Trillat Procedure for Patellar Instability

2005 ◽  
Vol 33 (8) ◽  
pp. 1220-1223 ◽  
Author(s):  
Joseph R. Carney ◽  
Timothy S. Mologne ◽  
Michael Muldoon ◽  
Jay S. Cox
Keyword(s):  
Confidence Interval ◽  
Case Series ◽  
Level Of Evidence ◽  
Long Term Effect ◽  
Functional Scores ◽  
Study Population ◽  
Term Evaluation ◽  
Subluxation Of The Patella

Background Few published articles exist reporting the long-term evaluation of the Roux-Elmslie-Trillat procedure. Purpose To assess the long-term effect of the Roux-Elmslie-Trillat procedure in preventing recurrent subluxation and dislocation of the patella. Study Design Case series; Level of evidence, 4. Methods Eighteen patients who underwent the Roux-Elmslie-Trillat procedure for dislocation or subluxation of the patella were identified from a group previously evaluated at a mean follow-up of 3 years. The prevalence of recurrent subluxation or dislocation at a mean follow-up of 26 years was compared with the prevalence reported at the mean follow-up of 3 years. Although not the focus of this study, Cox functional scores were obtained from the smaller group and compared with the results at the 3-year follow-up. Results Seven percent (95% confidence interval, 0.00-0.32) of the patients had recurrent subluxation at 26 years compared with 7% (95% confidence interval, 0.03-0.13) of the study population reported at 3 years (P = 1.00). Fifty-four percent (95% confidence interval, 0.27-0.79) rated their affected knee as good or excellent at 26 years compared with 73% (95% confidence interval, 0.64-0.81) of the larger study population reported at 3 years (P = .14). Conclusion The prevalence of recurrent subluxation and dislocation in patients with patellofemoral malalignment who underwent the Roux-Elmslie-Trillat procedure for dislocation or subluxation of the patella is similar at 3 and 26 years after the procedure. The long-term functional status of the affected knee in patients who underwent the Roux-Elmslie-Trillat procedure declined.

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