scholarly journals Cardiac and ocular manifestations in Egyptian patients with mucopolysaccharidoses

2001 ◽  
Vol 7 (06) ◽  
pp. 981-991 ◽  
Author(s):  
R. M. Shawky ◽  
M. T. Abdel Monim ◽  
A. A. El Sebai ◽  
S. M. El Sayed

Cardiac and ocular manifestations were evaluated in 21 patients clinically suspected of mucopolysaccharidosis. After electrophoresis analysis of urinary glycoaminoglycans, 3 patients were excluded because their results did not correlate with any known type of mucopolysaccharidosis. Echocardiography revealed abnormal findings in 11 patients [61.1%]. The mitral valve was the most commonly affected valve; 7 patients [38.9%] had thickened mitral valve and 6 had mitral regurge. Corneal opacities were found in 3 patients [16.7%] and progressive increase in intraocular pressure in 1 patient [5.6%], while fundus examination showed early optic atrophy in 1 patient [5.6%] and bilateral papilloedema in 2 patients [11.1%].

Biomedicines ◽  
2021 ◽  
Vol 9 (6) ◽  
pp. 682
Author(s):  
Maria Jesus Rodrigo ◽  
David Garcia-Herranz ◽  
Manuel Subias ◽  
Teresa Martinez-Rincón ◽  
Silvia Mendez-Martínez ◽  
...  

 Background: To compare two prolonged animal models of glaucoma over 24 weeks of follow-up. A novel pre-trabecular model of chronic glaucoma was achieved by injection of biodegradable poly lactic-co-glycolic acid (PLGA) microspheres (10–20 µm) (Ms20/10) into the ocular anterior chamber to progressively increase ocular hypertension (OHT). Methods: Rat right eyes were injected to induce OHT: 50% received a suspension of Ms20/10 in the anterior chamber at 0, 2, 4, 8, 12, 16 and 20 weeks, and the other 50% received a sclerosing episcleral vein injection biweekly (EPIm). Ophthalmological clinical signs, intraocular pressure (IOP), neuroretinal functionality measured by electroretinography (ERG), and structural analysis of the retina, retinal nerve fiber layer (RNFL) and ganglion cell layer (GCL) protocols using optical coherence tomography (OCT) and histological exams were performed. Results: Both models showed progressive neuroretinal degeneration (p < 0.05), and contralateral eye affectation. The Ms20/10 model showed a more progressive increase in IOP and better preservation of ocular surface. Although no statistical differences were found between models, the EPIm showed a tendency to produce thicker retinal and thinner GCL thicknesses, slower latency and smaller amplitude as measured using ERG, and more aggressive disturbances in retinal histology. In both models, while the GCL showed the greatest percentage loss of thickness, the RNFL showed the greatest and earliest rate of thickness loss. Conclusions: The intracameral model with biodegradable microspheres resulted more like the conditions observed in humans. It was obtained by a less-aggressive mechanism, which allows for adequate study of the pathology over longer periods. 


1981 ◽  
Vol 62 (5) ◽  
pp. 75-76
Author(s):  
Y. M. Vurgaft

There is no consensus in the literature on how to measure intraocular pressure (IOP) in case of leucorrhoea. We set ourselves the goal of finding out in a clinical setting the effect on the data of applanation tonometry of the size, intensity and location of corneal opacities and, taking into account the information obtained, to develop the most rational method for assessing tonometric indications for leucorrhoea.


2016 ◽  
Vol 12 (2) ◽  
Author(s):  
Ghulam Sabir

Aim: To recognize and draw a line between glaucomatous and non glaucomatous patients at very early stage. Objects: Such silent dangerous ocular problem must be recognized and treated at very initial stage to avoid subsequent complications. Diagnosis: History and all the parameters including intraocular pressure, vision, visual fields and fundus examination were evaluated for diagnosis. Method of study: The study was done at General Hospital and Services Hospital Lahore from 1987 to early 1991. All the patients over the age of 40 year whether coming for first time or already on antiglaucoma treatment were evaluated thoroughly. Patients were examined by senior colleagues also. Results: Total 180 patients were included in study, 120 males 60 females. They were divided into four groups. Group I and II were diagnosed early and included 120 patients with no complications. Group-III and IV were misdiagnosed and included 60 patients. Discussion Until and unless, special care is taken to focus on the diagnosis, it is usually missed with many complications. It is only the casual behaviour of treating physician who considers the patient`s complaint lightly and examines them superficially. Conclusion: Although misdiagnosed cases are relatively less than truly misdiagnosed cases of glaucoma yet they form an important fraction of patients who may go blind within coming years. It is therefore necessary to diagnose such patients at very early stage. The surgeon should take special interest to diagnose such patients. One should not hesitate to consult senior colleagues in doubtful cases. Proper counseling for non cooperative patients is very necessary.


2021 ◽  
Vol 62 (7) ◽  
pp. 1003-1007
Author(s):  
Sang Yoon Kim ◽  
Seung Min Lee ◽  
Jonghoon Shin ◽  
Ji Eun Lee ◽  
Su Jin Kim

Purpose: We report ocular manifestations in two patients with 7q microdeletion. Case summary: (Case 1) A 62-day-old male infant was admitted to the ophthalmology outpatient department for ocular examination after being diagnosed with microdeletion of chromosome seven (7q36.2q36.3 deletion) in DNA microarray comparative genomic hybridization (DNA microarray CGH) and fluorescence in situ hybridization (FISH) tests. Fundus examination showed optic disc hypoplasia in both eyes and retinopathy of prematurity, accompanied by retinal hemorrhage in his right eye. Around the age of 24 months, the patient was diagnosed with intermittent exotropia with anisometropia and was prescribed spectacles. (Case 2) A 3-year-old male infant was referred to the ophthalmology clinic to evaluate poor fixation, which was found during rehabilitation therapy for cerebral palsy and developmental delay. Fundus examination showed an increased cup/disc ratio bilaterally. A flash visual evoked potential test indicated a decrease in amplitude in his right eye. Intermittent exotropia of forty prism diopters was observed. DNA microarray CGH and FISH tests performed at another hospital revealed microdeletion of chromosome seven (7q35 microdeletion) and CNTNAP2 gene loss. Conclusions: When genetic anomalies associated with ocular development are identified, it is necessary to detect the ophthalmic abnormalities early and provide the appropriate treatment to allow for the development of normal visual function.


2014 ◽  
Vol 6 (1) ◽  
pp. 105-108
Author(s):  
Carlos Mario Franco ◽  
Kepa Balparda ◽  
Ana María Díaz ◽  
Daniel Jiménez ◽  
Ana Paulina Pamplona

Background: Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome is an uncommon condition related to a paraneoplastic syndrome secondary to an underlying plasma cell disorder. Among the myriad of manifestations of the disease, ocular signs and symptoms are relatively prevalent, affecting about half of all patients with the disease. Objective: To report the ocular manifestations of POEMS syndrome. Case: A 47-year-old lady diagnosed to have POEMS syndrome presented with painless progressive visual diminution. Her color vision was impaired. There was bilateral papilloedema. Conclusion: POEMS syndrome should be considered among the differential diagnoses of all patients with a bilateral papilledema in which no other cause can be readily elucidated. DOI: http://dx.doi.org/10.3126/nepjoph.v6i1.10781 Nepal J Ophthalmol 2014; 6 (2): 105-108


2021 ◽  
pp. 43-44
Author(s):  
Mohammed Ather ◽  
Farha Jabeen ◽  
Vanga Hemanth Reddy ◽  
Avvari Sowmya ◽  
Manikonda Bhoomika Rao ◽  
...  

Purpose: To identify the ocular disorders in mentally challenged children attending a special school. Methods: A total of 100 mentally challenged children in the age group of 3-16 years attending special school in a district of South India were examined. Complete ocular examination was done. Ocular problems were identied and categorized into development related, hygiene related and IQ related problems. Results: Seventy children (70%) had ocular problems. Refractive error and strabismus were the common ocular problems seen in this study. Ocular manifestations like nystagmus, congenital ptosis, anti mongoloid slant, wide telecanthus with epicanthus, chalazia, stye, blepharitis, congenital NLD obstruction, conjunctivitis, xerosis, microcornea, corneal opacities, congenital cataracts, optic atrophy, retinitis pigmentosa were seen. An association was found between the severity of mental retardation and ocular problems (P<0.005). Conclusion: A high prevalence of ocular problems was seen in mentally retarded school children. These children should undergo annual ophthalmic evaluation. Visual function of the children should be assessed as soon as the child is admitted to the school. Earlier assessment and correction of the visual problems will have greater chance of achieving potential and will prevent visual impairment. Aim of the study: To identify the ocular disorders in mentally challenged children attending National Institute of Mental Health, a special school for such children.


2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Lauren A. Dalvin ◽  
Christopher L. Deufel ◽  
Kimberly S. Corbin ◽  
Ivy A. Petersen ◽  
Timothy W. Olsen ◽  
...  

2011 ◽  
Vol 21 (6) ◽  
pp. 695-699 ◽  
Author(s):  
Chrysanthi Basdekidou ◽  
Pascal Dureau ◽  
Catherine Edelson ◽  
Patrice De Laage De Meux ◽  
Georges Caputo

Purpose. To evaluate the surgical outcomes and visual results after penetrating keratoplasty for congenital unilateral corneal opacities in Peters anomaly. Methods. This was a retrospective study of 14 children who underwent keratoplasty for a unilateral Peters anomaly between 1999 and 2009. All patients received a topical treatment of cyclosporine and corticosteroids. Suture ablation was performed between the first and second postoperative month and all patients had spectacle correction and amblyopia treatment. Age at time of surgery, posterior segment status evaluated by ultrasonography, axial length, preoperative intraocular pressure, fellow eye status, mean follow-up time, early and late complications, final graft outcome, refraction, and visual acuity upon the last visit were noted. Results. Mean age at the time of surgery was 9 months. Posterior segment was normal in all cases. Mean axial length was 18 mm and mean intraocular pressure was 11 mmHg. Mean follow-up was 30 months. Four children had graft rejection episodes, 2 of which responded to medication. Four underwent cataract surgery, one developed pupil deformation requiring a pupilloplasty and 2 cases were complicated by surgical glaucoma. A total of 11 eyes (78.6%) had clear grafts at the end of the follow-up. Mean spherical equivalent was −1.5 D. Visual acuity was measurable in 3 cases and was 20/50 in one case, 20/63 in the second, and 20/2000 in the third. Concerning preverbal children, central, steady, and maintained fixation was found in 8 cases. Conclusions. Operating on a unilateral congenital corneal opacity is a challenging decision and should be taken after explaining the need for long-term follow-up to the parents. Useful vision can be achieved and maintained after strict amblyopia therapy. A multidisciplinary ophthalmologic follow-up is necessary.


2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
L F Filippetti ◽  
O H Huttin ◽  
C V Venner ◽  
R A Aubert ◽  
Y J Juilliere ◽  
...  

Abstract Background Both pulmonary artery pressure (PAP) and right ventricular (RV) function have shown their value in the prognostic evaluation of patients with mitral valve prolapse (MVP). Echocardiography which allows simultaneous pressure estimation and volume measurement by 3D allows an approach of arterial (Ea) and ventricular elastance (Emx) and of right ventriculo-arterial coupling (RVAC), usually derived from pressure-volume loops, and could be of interest in the assessment of the RV-PA unit. Methods Thirty normal patients (group Nl, mean age 52.7 ± 15.9) and 75 patients with stable MVP (mean age 52.4 ± 15.4 (ns for age), 39 (group MVP1) with no or mild mitral regurgitation (MR) and 36 (group MVP2) with moderate to severe MR) underwent echocardiography including 3D RV acquisition. RV end-systolic volume (ESV), end-diastolic volume (EDV), stroke volume (SV) (mL) and ejection fraction (EF) (%) were obtained 3D echo (3DE) volumetric analysis (GE, EchoPac). mPAP was estimated from echo using Chemla’s formula (mPAP = 0.61 x sPAP + 2mmHg). Pulmonary artery effective elastance (Ea) was estimated as mPAP/SV (mmHg/mL), RV maximal end-systolic elastance (Emax) as mPAP/ESV (mmHg/mL), and RVAC as Ea/Emax. Ea, Emax and RVAC were compared between the 3 groups of patients using ANOVA. Results Mean LVEF was similar in the 3 groups. There was a significant differences in mPAP (Nl: 15.6 ± 3.0; MVP1: 16.3 ± 3.3; MVP2: 22.9 ± 11.1, p = 0.001). RVEDV (Nl: 81.3 ± 19.2; MVP1: 80.1 ± 22.0; MVP2: 96.1 ± 28.6, p = 0.09), RVEF (Nl: 50.4 ± 4.4; MVP1: 49.3 ± 5.5; MVP2: 46.6 ± 6.6, p = 0.02) and RVESV (Nl: 39.9 ± 9.8; MVP1: 40.8 ± 12.8; MVP2: 52.0 ± 19.5, p = 0.01) were significantly different among the 3 groups. There was a non significant trend toward progressive increase in Ea (Nl: 0.41 ± 0.12; MVP1: 0.45 ± 0.15; MVP2: 0.53 ± 0.30, p = 0.07) and E max (Nl: 0.42 ± 0.11; MVP1: 0.45 ± 0.17; MVP2: 0.53 ± 0.31, p = 0.11) among the 3 groups but RVAC was not significantly different (Nl: 0.99 ± 0.17; MVP1: 1.04 ± 0.22; MVP2: 1.05 ± 0.37, ns). Conclusion 3D echocardiography allows a complete analysis of the RV-PA unit and is able to reveal subtle changes in its equilibrium. Together with an increase in RV volumes and decrease in RVEF, our study reveals a progressive increase in arterial elastance in parallel with the severity of MR, compensated by an increase in ventricular elastance to maintain RV – PA coupling in those stable patients with MVP.


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