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1.
Saudi J Ophthalmol ; 37(3): 241-246, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38074304

RESUMEN

PURPOSE: Myopia is known to be one of the most common causes of impaired vision. It is on the rise, especially among high-risk groups such as medical students. Our study aims to estimate the prevalence of myopia and characterize the associated risk factors among medical trainees in Lebanon. METHODS: This descriptive cross-sectional study targeted all medical students and residents enrolled at the Lebanese University in April 2020. Ocular history data, including refractive errors and daily activities, were collected using an online survey. The primary measure was the prevalence of myopia. The secondary measures were myopia risk factors. Associations of demographic and behavioral factors were explored, and risk factors were analyzed using multivariate logistic regression. RESULTS: Among 365 participants (mean age 22.8 years), 51.6% (185) were female. Myopia was found to be prevalent in 52.8% (193) of medical trainees, with a mean reported refractive error of -2.46 diopters in the study eye (right eye) and -2.41 diopters in the fellow eye (left eye). Three factors were significantly and independently associated with myopia prevalence, namely, history of myopia in siblings (P < 0.001), more hours of near activities (P = 0.026), and less outdoor activity (P = 0.007). CONCLUSION: By quantifying the high prevalence of myopia among medical trainees in Lebanon, as well as the established familial and behavioral risk factors, our findings congruently contribute to the global perspective of this long-studied refractive error.

2.
Genes (Basel) ; 14(2)2023 02 15.
Artículo en Inglés | MEDLINE | ID: mdl-36833424

RESUMEN

Spondyloocular syndrome (SOS, OMIM # 605822) is a rare genetic disorder characterized by osseous and ocular manifestations, including generalized osteoporosis, multiple long bones fractures, platyspondyly, dense cataracts and retinal detachment, and dysmorphic facial features, with or without short stature, cardiopathy, hearing impairment, and intellectual disability. Biallelic mutations in the XYLT2 gene (OMIM * 608125), encoding the xylosyltransferase II, were shown to be responsible for this disease. To date, 22 cases with SOS have been described, with varying clinical presentations and a yet-to-be-established genotypic-phenotypic correlation. Two patients from a consanguineous Lebanese family that presented with SOS were included in this study. Whole exome sequencing revealed a novel homozygous nonsense mutation in XYLT2 (p.Tyr414*) in these patients. We review all previously reported cases with SOS, describe the second nonsense mutation in XYLT2, and contribute to a better delineation of the phenotypic spectrum of the disease.


Asunto(s)
Osteocondrodisplasias , Osteoporosis , Humanos , Codón sin Sentido , Fenotipo , Osteocondrodisplasias/genética , Homocigoto , Osteoporosis/genética , Trastornos de la Visión
3.
Eur J Neurol ; 29(8): 2486-2492, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35638367

RESUMEN

BACKGROUND AND PURPOSE: Epileptic encephalopathy (EE) refers to a heterogeneous group of epilepsy syndromes characterized by seizures as well as encephalopathies, leading to cognitive and behavioral disturbances. These conditions vary in their age at onset, their severity, and their electroencephalographic patterns. Whereas genetic factors are involved in approximately 40% of all epilepsy cases, they contribute to 80% of early infantile EEs (EIEEs), with approximately 125 genes previously linked to this disease. METHODS: Whole exome sequencing (WES) was performed in a 9-month-old Lebanese girl presenting with EIEE. RESULTS: WES enabled the detection of a homozygous missense mutation in the NECAP1 gene (NM_015509.3: p.Glu8Lys) in the proband. CONCLUSIONS: Here, we report the first homozygous missense mutation in the NECAP1 gene in a 9-month-old girl presenting with EIEE. Our findings allow a better characterization of the NECAP1-linked disease and enable broadening its clinical spectrum by including, in addition to EIEE, severe generalized hypotonia, poor feeding, developmental delay, severe microcephaly, delayed myelination, abnormalities of the corpus callosum, and eye abnormalities.


Asunto(s)
Epilepsia , Espasmos Infantiles , Electroencefalografía , Epilepsia/genética , Femenino , Homocigoto , Humanos , Lactante , Mutación/genética , Espasmos Infantiles/genética
4.
Case Rep Ophthalmol Med ; 2021: 3671951, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33510921

RESUMEN

Digital marking systems have been shown to be more accurate at positioning toric intraocular lenses and hence providing better visual outcomes. Patients with cyclodeviation and concomitant astigmatism undergoing toric intraocular lens placement present an extra challenge. We present a case of a patient with high astigmatism and a preexisting superior oblique palsy where using the Verion™ digital marking system proved to be an extremely valuable tool. We suggest that using this technology is especially helpful in patients with preexisting cyclodeviation and compensatory head tilt.

5.
J Refract Surg ; 32(8): 534-41, 2016 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-27505314

RESUMEN

PURPOSE: To report the incidence, clinical presentation, risk factors, and treatment outcome of pediatric keratoconus in a tertiary referral eye hospital in Beirut, Lebanon. METHODS: In this retrospective study, the authors evaluated all patients with keratoconus 14 years or younger newly diagnosed at the Beirut Eye Specialist Hospital, Beirut, Lebanon, between January 2010 and December 2014. The incidence of pediatric keratoconus among all pediatric patients and among patients with keratoconus of all ages was assessed. Patients with pediatric keratoconus were evaluated for keratoconus stage, initial presentation, uncorrected distance visual acuity, corrected distance visual acuity (CDVA), corneal topography, and pachymetry. Patients were classified according to different treatment regimen groups and different follow-up visits were evaluated. RESULTS: During 5 years, 16,808 patients were examined, of whom 2,972 were 14 years or younger. A total of 541 patients were diagnosed as having keratoconus; of those, 16 were 14 years or younger at the time of diagnosis. Hence, the incidence of keratoconus was 0.53% among pediatric patients and 3.78% among adult patients (> 14 years). Initial presentation was during routine checkup (1 of 16) for allergic conjunctivitis (3 of 16), reduced vision (10 of 16), and corneal hydrops (mimicking keratitis) (2 of 16). Except for 2 patients lost to follow-up, all eyes received corneal cross-linking treatment and 16 eyes received additional intracorneal ring segment implantation. CONCLUSIONS: The incidence of pediatric keratoconus indicates that increased awareness for keratoconus among children is needed, mainly in cases of family history of keratoconus, ocular allergy/pruritus, poor CDVA, corneal hydrops, and/or high astigmatism. [J Refract Surg. 2016;32(8):534-541.].


Asunto(s)
Reactivos de Enlaces Cruzados/uso terapéutico , Queratocono , Prótesis e Implantes , Adolescente , Niño , Topografía de la Córnea , Femenino , Humanos , Incidencia , Queratocono/diagnóstico , Queratocono/epidemiología , Queratocono/terapia , Líbano/epidemiología , Masculino , Fármacos Fotosensibilizantes/uso terapéutico , Derivación y Consulta , Estudios Retrospectivos , Riboflavina/uso terapéutico , Factores de Riesgo , Centros de Atención Terciaria , Rayos Ultravioleta , Agudeza Visual/fisiología
6.
J AAPOS ; 17(4): 367-70, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23928003

RESUMEN

PURPOSE: To assess the outcomes after hydrophilic acrylic intraocular lens (IOL) implantation during pediatric cataract surgery. METHODS: This was a retrospective chart review of children who underwent cataract surgery or secondary IOL implantation at Beirut Eye Specialist Centre, Rizk Hospital, between March 2002 and August 2007. RESULTS: A total of 57 eyes of 40 patients (20 boys) were included in this study. The average age at surgery was 48 ± 40 months (range, 5-172 months). Of these, 54 eyes had congenital or developmental cataracts and 3 eyes had traumatic cataracts. Primary cataract removal and IOL implantation accounted for 45 surgeries, and secondary IOL implantation accounted for 12 surgeries. Hydrophilic acrylic IOLs were implanted in all surgeries. Average follow-up time was 47 ± 21 months (range, 9-97 months). No intraoperative complications were recorded. Of the 57 eyes, 12 (21%) had postoperative complications, but only 7 (12%) required secondary intervention. Average best-corrected visual acuity improved from 2.0 ± 1.0 logMAR preoperatively to 0.8 ± 1.0 logMAR at last follow-up. Improved visual acuity was observed in 47 eyes (82.5%); 31 eyes (54.4%) had a visual acuity of ≥ 20/40 at the last follow-up. CONCLUSIONS: Hydrophilic acrylic IOLs appear to be suitable for use in pediatric cataract surgery. Results from this study suggest that, compared with hydrophobic IOLs, these IOLs produce similar complication rates, secondary intervention rates, and visual acuity results.


Asunto(s)
Extracción de Catarata/métodos , Lentes de Contacto Hidrofílicos , Implantación de Lentes Intraoculares , Lentes Intraoculares , Adolescente , Materiales Biocompatibles , Niño , Preescolar , Lentes de Contacto Hidrofílicos/efectos adversos , Femenino , Humanos , Lactante , Implantación de Lentes Intraoculares/métodos , Lentes Intraoculares/efectos adversos , Masculino , Evaluación de Resultado en la Atención de Salud , Diseño de Prótesis , Estudios Retrospectivos , Agudeza Visual
7.
Anesthesiology ; 107(5): 733-8, 2007 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-18073548

RESUMEN

BACKGROUND: Emergence agitation in children after sevoflurane is common. Different drugs have been used to decrease its occurrence with variable efficacy. The authors compared the incidence and severity of emergence agitation in children who received a single dose of propofol at the end of strabismus surgery versus children who received saline. METHODS: In this prospective, randomized, double-blind study, the authors enrolled 80 healthy children aged 2-6 yr. The children were randomly allocated to the propofol group (n = 41), which received 1 mg/kg propofol at the end of surgery, or to the saline group (n = 39), which received saline. RESULTS: The mean scores on the Pediatric Anesthesia Emergence Delirium scale were significantly lower in the propofol group compared with the saline group (8.6 +/- 3.9 vs. 11.5 +/- 4.5; P = 0.004). Also, the incidence of agitation was significantly lower in the propofol group compared with the saline group (19.5% vs. 47.2%; P = 0.01). A threshold score greater than 10 on the Pediatric Anesthesia Emergence Delirium scale was the best discriminator between presence and absence of emergence agitation. Times to removal of the laryngeal mask airway (10.6 +/- 1.5 vs. 9.4 +/- 1.9 min; P = 0.004) and emergence times (23.4 +/- 5.7 vs. 19.7 +/- 5 min; P = 0.004) were significantly longer in the propofol group. However, discharge times were similar between the two groups (propofol: 34.1 +/- 8.4 min; saline: 34.9 +/- 8.6 min). More parents in the propofol group were satisfied. CONCLUSIONS: In children undergoing strabismus surgery, 1 mg/kg propofol at the end of surgery after discontinuation of sevoflurane decreases the incidence of agitation and improves parents' satisfaction without delaying discharge from the postanesthesia care unit.


Asunto(s)
Periodo de Recuperación de la Anestesia , Éteres Metílicos/efectos adversos , Propofol/uso terapéutico , Agitación Psicomotora/prevención & control , Estrabismo/cirugía , Anestésicos por Inhalación/efectos adversos , Anestésicos Intravenosos/administración & dosificación , Anestésicos Intravenosos/uso terapéutico , Niño , Preescolar , Método Doble Ciego , Femenino , Humanos , Incidencia , Tiempo de Internación/estadística & datos numéricos , Masculino , Satisfacción del Paciente/estadística & datos numéricos , Propofol/administración & dosificación , Estudios Prospectivos , Agitación Psicomotora/epidemiología , Curva ROC , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , Sevoflurano , Cloruro de Sodio/administración & dosificación , Factores de Tiempo , Resultado del Tratamiento
9.
BMC Cancer ; 5: 156, 2005 Dec 06.
Artículo en Inglés | MEDLINE | ID: mdl-16332258

RESUMEN

BACKGROUND: Zoledronic acid is very widely used in patients with metastatic bone disease and osteoporosis. Only one case of bilateral uveitis was recently reported related to its use. CASE PRESENTATION: We report the first case of severe unilateral anterior uveitis in a patient with breast cancer and an intraocular lens. Following zoledronic acid infusion, the patient developed severe and dramatic right eye pain with decreased visual acuity within 24 hours and was found to have a fibrinous anterior uveitis of moderate severity The patient was treated with topical prednisone and atropine eyedrops and recovered slowly over several months. CONCLUSION: Internists, oncologists, endocrinologists, and ophtalmologists should be aware of uveitis as a possible complication of zoledronic acid therapy. Patients should be instructed to report immediately to their physicians and treatment with topical prednisone and atropine eyedrops should be instituted immediately at the onset of symptoms. This report documents anterior uveitis as a complication of zoledronic acid therapy. This reaction could be an idiosyncratic one but further research may shed more light on the etiology.


Asunto(s)
Conservadores de la Densidad Ósea/efectos adversos , Neoplasias de la Mama/complicaciones , Difosfonatos/efectos adversos , Imidazoles/efectos adversos , Uveítis Anterior/inducido químicamente , Conservadores de la Densidad Ósea/uso terapéutico , Difosfonatos/uso terapéutico , Femenino , Humanos , Imidazoles/uso terapéutico , Persona de Mediana Edad , Osteoporosis/tratamiento farmacológico , Osteoporosis/etiología , Ácido Zoledrónico
10.
J AAPOS ; 8(6): 528-33, 2004 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-15616499

RESUMEN

PURPOSE: Immediate postoperative adjustment after adjustable-suture strabismus surgery has been suggested as a viable alternative to the classic adjustment that is performed, usually within 6 to 24 hours after surgery. The purpose of this study was to compare the immediate postoperative eye measurements with those taken 24 hours postoperatively and to determine whether there was any significant difference between the 2 measurements. METHODS: This was a prospective study of strabismus patients who were candidates for muscle surgery using the adjustable-suture technique. All patients received a total intravenous general anesthesia, which allowed rapid recovery of consciousness. Measurements using the simultaneous prism cover test were obtained in the recovery room immediately after the patients regained consciousness and again 24 hours after surgery. Both measurements were taken before adjustment and were compared. RESULTS: A total of 25 patients were studied. The postoperative alignment changed significantly during the first 24 hours in 84% of our patients. The mean drift in alignment during the first 24 hours measured 7.2 +/- 4.3 prism diopters and was significantly different from 0 ( P < 0.001). CONCLUSION: The immediate postoperative ocular alignment after adjustable strabismus surgery is significantly different from the 24 hours postoperative alignment. This difference was noticed despite using an anesthesia protocol that allowed rapid recovery and full regaining of consciousness shortly after the conclusion of surgery. This early drift should be taken into consideration if adjustment is to be made in the immediate postoperative period.


Asunto(s)
Músculos Oculomotores/cirugía , Estrabismo/cirugía , Técnicas de Sutura , Pruebas de Visión/métodos , Visión Binocular/fisiología , Adolescente , Adulto , Anestesia General/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Procedimientos Quirúrgicos Oftalmológicos , Cuidados Posoperatorios , Estudios Prospectivos , Reproducibilidad de los Resultados , Factores de Tiempo , Agudeza Visual/fisiología
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