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1.
Int Ophthalmol ; 44(1): 75, 2024 Feb 13.
Artículo en Inglés | MEDLINE | ID: mdl-38349582

RESUMEN

PURPOSE: The current study is aimed to present the long-term results of the patients who underwent conjunctivolimbal autograft (CLAU) as the primary operation in unilateral limbal stem cell deficiency and the ocular surface safety of the donor eyes. The patients were followed up for five years or longer. METHODS: The records of all patients who underwent CLAU as the primary operation were retrospectively analyzed. Additional ocular surface operations, ocular surface stability, best-corrected visual acuity (BCVA), and ocular surface status of the donor eyes were investigated. RESULTS: The mean age of the patients at the time of transplantation was 35.07 ± 12.9 (12-60). Twenty-nine eyes of 29 patients were followed up for an average of 97.82 ± 34.45 (60-186) months. Additional ocular surface operation was required in 27.58% (8/29) of the eyes in order to achieve a stable ocular surface. Ocular surface stability was achieved in 82.75% (24/29) of the eyes at the end of the follow-up period. BCVA increased from 1.78 ± 0.82 to 0.91 ± 0.92 logMAR at the last visit (p < 0.001). Corneal ectasia and vascularization developed in one donor eye in the fifth postoperative year. CONCLUSIONS: CLAU tissues provide ocular surface stability with a successful vision result in the long term. CLAU theoretically carries risks including limbal stem cell deficiency in the donor eye. In the long-term follow-up of donor eyes after CLAU, ectasia and limbal stem cell deficiency were observed in one eye.


Asunto(s)
Deficiencia de Células Madre Limbares , Humanos , Autoinjertos , Dilatación Patológica , Estudios Retrospectivos , Ojo
2.
Am J Hum Genet ; 105(1): 132-150, 2019 07 03.
Artículo en Inglés | MEDLINE | ID: mdl-31230720

RESUMEN

Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohort of 89 families with the clinical sign of arthrogryposis. Additional molecular techniques including array comparative genomic hybridization (aCGH) and Droplet Digital PCR (ddPCR) were performed on individuals who were found to have pathogenic copy number variants (CNVs) and mosaicism, respectively. A molecular diagnosis was established in 65.2% (58/89) of families. Eleven out of 58 families (19.0%) showed evidence for potential involvement of pathogenic variation at more than one locus, probably driven by absence of heterozygosity (AOH) burden due to identity-by-descent (IBD). RYR3, MYOM2, ERGIC1, SPTBN4, and ABCA7 represent genes, identified in two or more families, for which mutations are probably causative for arthrogryposis. We also provide evidence for the involvement of CNVs in the etiology of arthrogryposis and for the idea that both mono-allelic and bi-allelic variants in the same gene cause either similar or distinct syndromes. We were able to identify the molecular etiology in nine out of 20 families who underwent reanalysis. In summary, our data from family-based ES further delineate the molecular etiology of arthrogryposis, yielded several candidate disease-associated genes, and provide evidence for mutational burden in a biological pathway or network. Our study also highlights the importance of reanalysis of individuals with unsolved diagnoses in conjunction with sequencing extended family members.


Asunto(s)
Artrogriposis/genética , Artrogriposis/patología , Variaciones en el Número de Copia de ADN , Marcadores Genéticos , Genómica/métodos , Herencia Multifactorial/genética , Mutación , Adolescente , Adulto , Niño , Preescolar , Estudios de Cohortes , Conectina/genética , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Masculino , Mosaicismo , Linaje , Canal Liberador de Calcio Receptor de Rianodina/genética , Proteínas de Transporte Vesicular/genética , Secuenciación del Exoma , Adulto Joven
3.
Int Ophthalmol ; 41(11): 3675-3686, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34180019

RESUMEN

PURPOSE: To analyze the visual outcomes, contrast sensitivity (CS), and patient satisfaction differences between the bilateral implantation of a trifocal intraocular lens (IOL) and the mix-match implantation of an extended-depth-of-focus (EDOF) IOL and a diffractive trifocal IOL. METHODS: A total of 20 patients who underwent bilateral implantation of AT LISA tri 839MP (Group 1) and 20 patients who had a mix-match implantation of AT LARA 829MP in the dominant eye and AT LISA tri 839MP in the nondominant eye (Group 2) were evaluated. Uncorrected distance (4 m), intermediate (60 cm and 80 cm), and near (40 cm) visual acuity, as well as CS, defocus curve, and responses to the patient questionnaires, were evaluated. RESULTS: Eighty eyes of 40 patients were included. Uncorrected distance and near visual outcomes were similar between the groups (p > 0.05). Group 2 showed significantly better intermediate visual outcomes at 60 cm and 80 cm than Group 1 (p < 0.05). Group 2 showed significantly better CS outcomes (photopic and mesopic) than Group 1 (p < 0.05). There was no significant difference between the groups regarding defocus curves from + 0.00 D to - 2.00 D, but a significant difference was shown from - 2.00 D to - 4.00 D. Patients' satisfaction was significantly higher in Group 2 for driving at night (p < 0.05). CONCLUSIONS: Both groups showed an effective visual performance. Group 2 exhibited better photopic and mesopic CS. The combination of EDOF and trifocal IOL seems to be a good option with a comfortable vision at all distances and less adverse visual phenomena.


Asunto(s)
Lentes Intraoculares , Seudofaquia , Humanos , Implantación de Lentes Intraoculares , Satisfacción del Paciente , Estudios Prospectivos , Diseño de Prótesis , Seudofaquia/cirugía , Refracción Ocular , Visión Binocular
4.
Eye Contact Lens ; 46(5): 297-300, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31658176

RESUMEN

OBJECTIVES: We aimed to compare the results of biomicroscopic examination and light microscopy in the diagnosis of Demodex infestation in chronic blepharitis cases. METHODS: The study was performed with retrospective data and included patients with chronic blepharitis and who were admitted to the Medipol University Ophthalmology Outpatient Clinic. Biomicroscopic evaluation was performed intentionally under 40x magnification to investigate the presence of Demodex ectoparasites. Three or four pieces of eyelashes were obtained from all cases with epilation technique, and Demodex parasites were examined under ×100 and ×400 magnifications with light microscopy. The presence of one or more Demodex parasites in the examined area under light microscopy was considered to be positive for infestation. We calculated sensitivity, specificity, false-positive rate, false-negative rate, and positive and negative predictive values of biomicroscopic examination compared with those of positive light microscopy. RESULTS: Of the 255 subjects included in the study, 134 (52.5%) were men and 121 (47.5%) were women. The mean age was 43.9±11.9 years. Of the 255 chronic blepharitis cases, 130 (51%) presented Demodex infestation on light microscopy. We calculated the sensitivity, specificity, false-positive rate, false-negative rate, positive predictive value, and negative predictive value and were found to be 83.07%, 90.4%, 9.6%, 16.9%, 90%, and 83.7%, respectively, for the biomicroscopic examination. CONCLUSIONS: Careful biomicroscopic examination can be time-efficient and cost-effective, and the need for more advanced and invasive procedures for the identification of Demodex in patients with chronic blepharitis can be reduced.


Asunto(s)
Blefaritis , Infecciones Parasitarias del Ojo , Pestañas , Infestaciones por Ácaros , Ácaros , Adulto , Animales , Blefaritis/diagnóstico , Infecciones Parasitarias del Ojo/diagnóstico , Femenino , Humanos , Masculino , Microscopía , Infestaciones por Ácaros/diagnóstico , Estudios Retrospectivos
5.
Eur J Ophthalmol ; : 11206721211018361, 2021 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-34011178

RESUMEN

PURPOSE: This study aimed to analyze the changes in meibomian glands (MGs) and tear film layer over time in patients taking systemic isotretinoin treatment. METHODS: Patients who received systemic isotretinoin treatment between 4 and 8 months were prospectively followed up. In addition to full ophthalmologic examination, MG dysfunction (MGD), noncontact meibography, noninvasive and invasive tear break-up time (TBUT), ocular surface disease index (OSDI), corneal staining, and eyelid margin abnormality scores were recorded before, during, and after treatment. RESULTS: A total of 88 eyes of 88 patients were included in the study. The right eyes of all the patients were included. The mean age of the patients was 21 ± 2.9 years. Of the 88 patients, 70 (79.6%) were females and 18 (20.4%) were males. Before the treatment, MGD, noncontact meibography, first noninvasive TBUT, mean noninvasive TBUT, invasive TBUT, OSDI, corneal staining, and eyelid margin abnormality scores were 0.29 ± 0.45, 4.93 ± 3.50, 13.78 ± 3.89 s, 14.47 ± 3.09 s, 12.96 ± 3.61 s, 0.54 ± 1.00, 0.04 ± 0.20, and 0.09 ± 0.28, respectively. Twelve months after the end of treatment, the scores were 0.97 ± 0.87 (p < 0.001), 9.62 ± 3.89 (p < 0.001), 11.24 ± 3.52 s (p < 0.001), 12.34 ± 3.02 s (p < 0.001), 11.31 ± 2.90 s (p < 0.001), 1.90 ± 2.44 (p < 0.001), 0.20 ± 0.40 (p < 0.001), and 0.56 ± 0.49 (p < 0.001), respectively. CONCLUSION: Systemic isotretinoin treatment causes morphological changes in the MGs. However, this treatment may negatively affect the tear film layer of patients. Some of these changes may persist for a long time even if the treatment is discontinued.

6.
Cornea ; 40(3): 299-302, 2021 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-33290319

RESUMEN

PURPOSE: To evaluate the efficacy of topical fresh frozen plasma (FFP) therapy on clinical symptoms, findings, and prognosis after anterior segment surgeries in patients with ligneous conjunctivitis (LC). METHODS: Retrospective case note review. RESULTS: Eleven eyes of 7 cases whose remission was not achieved after medical treatment such as topical corticosteroids, cyclosporine A, and heparin were included in the study. The median age of admission was 19 (1-49) years, median duration of FFP treatment was 48 (15-79) months, median follow-up period was 62 (16-114) months, and median age at symptom onset was 12 (4-252) months. Diagnosis was made according to clinical presentations, plasminogen activities, and response to treatment. Topical FFP that was prepared in our clinic was used in all cases. Surgeries (membrane excision, eyelid surgery, deep anterior lamellar keratoplasty, and cataract surgery) were performed after at least 1 month of FFP treatment. Prosthetic contact lens was applied to one eye. During the follow-up period, recurrences requiring membrane excision and side effects from topical FFP were not observed. CONCLUSIONS: LC is a rare membranous conjunctivitis that proceeds with remissions and recurrences. When it was shown that the etiology of LC is plasminogen deficiency, FFP became the only treatment option targeting the etiology. In this study, we observed that the topical FFP is an effective treatment method that prevents recurrence and ensures regression of membranes and safer anterior segment surgeries in LC.


Asunto(s)
Conjuntivitis/tratamiento farmacológico , Implantación de Lentes Intraoculares , Facoemulsificación , Plasma/fisiología , Plasminógeno/deficiencia , Enfermedades Cutáneas Genéticas/tratamiento farmacológico , Administración Oftálmica , Adulto , Preescolar , Conjuntivitis/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Enfermedades Cutáneas Genéticas/fisiopatología , Adulto Joven
7.
Turk J Ophthalmol ; 47(3): 156-160, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28630791

RESUMEN

Diabetic macular edema is the most common cause of visual impairment in patients with diabetes mellitus. The pathogenesis of macular edema is complex and multifactorial. For many years, laser photocoagulation has been considered the standard therapy for the treatment of diabetic macular edema; however, few patients achieve significant improvements in visual acuity. Today the intravitreal administration of anti-inflammatory or anti-angiogenic agents together with the use of laser photocoagulation represents the standard of care for the treatment of this complication. The intravitreal route of administration minimizes the systemic side effects of corticosteroids. Steroid-related ocular side effects are elevated intraocular pressure and cataract, while injection-related complications include endophthalmitis, vitreous hemorrhage, and retinal detachment. In order to reduce the risks and complications, intravitreal implants have been developed recently to provide sustained release of corticosteroids and reduce repeated injections for the management of diabetic macular edema. In this review, the efficacy, safety, and therapeutic potential of intravitreal corticosteroids in diabetic macular edema are discussed with a review of recent literature.

8.
Semin Ophthalmol ; 32(6): 759-763, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-27715375

RESUMEN

PURPOSE: To evaluate the changes in the macular ganglion cell complex (GCC) thickness and central macular thickness (CMT) as measured by spectral domain optical coherence tomography (OCT) post-argon laser panretinal photocoagulation (PRP). METHODS: The medical records of 25 patients with proliferative diabetic retinopathy (PDR) who underwent PRP, 29 patients with non-proliferative diabetic retinopathy (NPDR), and 29 patients with diabetes but without diabetic retinopathy (DR) were analyzed. The patients who received PRP were followed up for one year. The follow-up measurements were evaluated at baseline, and months 1, 6, and 12 post-argon laser PRP. The baseline values of CMT and GCC thickness were compared among the groups to assess changes with PRP therapy. RESULTS: The CMT gradually increased in months 1 and 6 and then decreased; however, it was significantly higher than the baseline value at month 12 in the PDR group post-PRP. The GCC thickness also increased at months 1 and 6 in almost all segments of the macula, but at month 12 decreased to the baseline value. There was no correlation between the increasing thickness of the macula and change in the GCC thickness post-PRP period in the PDR group. In addition, no significant correlation was detected between the GCC thickness and best-corrected visual acuity during all follow-up visits. CONCLUSIONS: GCC thickness increased significantly until month 6 compared with baseline values in most of the macular segments post-PRP in the PDR group. The GCC thickness at month 12 was not different from the baseline thickness in any of the macular segments.


Asunto(s)
Retinopatía Diabética/cirugía , Coagulación con Láser , Mácula Lútea/patología , Edema Macular , Células Ganglionares de la Retina/patología , Anciano , Análisis de Varianza , Argón/uso terapéutico , Retinopatía Diabética/patología , Femenino , Humanos , Coagulación con Láser/efectos adversos , Edema Macular/etiología , Edema Macular/patología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos
9.
Ital J Pediatr ; 41: 91, 2015 Nov 17.
Artículo en Inglés | MEDLINE | ID: mdl-26577276

RESUMEN

BACKGROUND: We aimed to evaluate the risk factors in preschool children admitted to inpatient services with a diagnosis of recurrent attacks of wheezing. METHOD: The medical files of 44 preschool children with 2 or more recurrent hospitalizations resulting from wheezing between November 2011 and January 2012 were retrospectively investigated. RESULTS: There were 28 males (64 %) and 16 females. The median age was 14 months (2.0-50). The median numbers of previous wheezing attacks and hospitalizations were 4 (2-10) and 2 (2-8), respectively. Fourteen patients (32 %) had been treated for gastroesophageal reflux (GER). The previous and recent hospital evaluations were investigated. Bronchopulmonary dysplasia and anemia were significantly more common in patients with 3 or more hospitalizations for wheezing than in those with 2 hospitalizations (p = 0.010 and p < 0.001, respectively). A review of the cases with 3 or more hospitalizations revealed that a history of GER and anemia were significant risk factors. CONCLUSION: Anemia and GER are risk factors for recurrent hospitalizations resulting from wheezing and should be treated. If the history and physical examination suggest asthma, inhaler therapy treatment should be administered, with other investigations planned for patients who do not respond to treatment as expected.


Asunto(s)
Anemia/complicaciones , Reflujo Gastroesofágico/complicaciones , Readmisión del Paciente/estadística & datos numéricos , Ruidos Respiratorios/etiología , Medición de Riesgo/métodos , Anemia/terapia , Broncoscopía , Preescolar , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Reflujo Gastroesofágico/terapia , Humanos , Incidencia , Lactante , Masculino , Radiografía Torácica , Recurrencia , Ruidos Respiratorios/diagnóstico , Estudios Retrospectivos , Factores de Riesgo , Tomografía Computarizada por Rayos X , Turquía/epidemiología
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