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1.
Am J Med Genet A ; 191(2): 586-591, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36369709

RESUMEN

To describe the anterior segment (AS) findings in patients with microphthalmia with linear skin defects syndrome (MLS), also known as microphthalmia, dermal aplasia, and sclerocornea (MIDAS). A retrospective chart review was conducted to identify patients with a diagnosis of MLS syndrome seen at UPMC Children's Hospital of Pittsburgh. Ophthalmic examination, high-frequency ultrasound, AS optical coherence tomography, and molecular testing were reviewed. Five female patients (10 eyes) were identified. One eye was anophthalmic, one was in a status post penetrating keratoplasty, and eight eyes presented with congenital corneal opacity (CCO). Of these, one showed a normal lens and a very small faint CCO; five showed congenital aphakia and characteristic silvery appearance of the cornea with vascularization; and two showed irido-corneal adhesions in association with normal or abnormal lens and localized avascular CCO. Genetic testing was performed and revealed involvement of HCCS in four patients. In MLS patients, kerato-irido-lenticular dysgenesis can be associated with secondary CCO. It is important to distinguish these CCO from sclerocornea, in order to refine the appropriate management and counseling the parents about the prognosis.


Asunto(s)
Opacidad de la Córnea , Microftalmía , Femenino , Humanos , Estudios Retrospectivos , Microftalmía/diagnóstico , Microftalmía/genética , Microftalmía/complicaciones , Opacidad de la Córnea/diagnóstico , Opacidad de la Córnea/genética , Síndrome , Fenotipo
2.
Appl Psychophysiol Biofeedback ; 48(3): 345-354, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37231183

RESUMEN

The aim of this study was to assess the therapeutic effectiveness of biofeedback, in a medical center's routine for treating vestibular disorders, reducing emotional, functional, and physical disability at three-month follow-up. A total of 197 outpatients were recruited from a medical center to treat vestibular disorders. Patients in the control group received treatment as usual, consisting of one monthly visit with an otolaryngologist and pharmacological treatment specific for vertigo, while the experimental group attended biofeedback training. Patients in the experimental group received pharmacological therapy only in the phase before the start of biofeedback in order to stabilize the acute phase. During the three-month follow-up, the experimental group did not receive any booster sessions of biofeedback. At three-month follow-up there was a statistically significant difference between the groups, both in the mean total score of the dizziness handicap inventory and in the three subscales: physical, emotional, and functional. Moreover, the biofeedback group had reduced psycho-physiological parameters for all average values at three-month follow-up compared to the baseline. This is one of few studies assessing the effectiveness of biofeedback in a naturalistic setting for vestibular disorder treatment. The data confirmed that biofeedback can impact illness course, in terms of self-perceived disability reduction, assessed on emotional, functional, and physical aspects of daily living.


Asunto(s)
Mareo , Vértigo , Humanos , Vértigo/terapia , Mareo/terapia , Mareo/psicología , Biorretroalimentación Psicológica , Italia
3.
Exp Eye Res ; 211: 108748, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34461137

RESUMEN

Currently, endothelial keratoplasty is the gold standard for the surgical treatment of Fuchs endothelial corneal dystrophy (FECD). Despite the remarkable success in terms of surgical outcomes, a shortage of corneal donor tissue poses a limitation to performing endothelial keratoplasty in many parts of the world. Cell therapy is a potential alternative strategy to keratoplasty and is currently under investigation. Considering that corneas with FECD may contain relatively healthy endothelial cells, samples obtained by descemetorhexis of eyes undergoing EK for FECD can be used for ex vivo expansion of endothelial cells as an autologous cell culture. In this study, we established corneal endothelial cell cultures derived from 40 patients that underwent endothelial keratoplasty for advanced FECD. Several parameters were evaluated including patient characteristics such as age, gender, and endothelial cell density as well as various processing and cell culture protocols based on different combinations of shipping temperatures, stabilization periods and treatment methods for corneal endothelial cell dissociation. FECD cultures were classified into three groups as: (i) no cells, (ii) cell cultures with endothelial-like morphology or (iii) cell cultures with fibroblast-like features. Our data seem to suggest that some factors can influence FECD cell culture characteristics including young age, high paracentral endothelial cell density, low shipping temperature and short stabilization period prior to cell isolation. Treatment with type 1 collagenase for cell isolation can delay endothelial-to-mesenchymal transition, but does not increase proliferative capacity. Although heterologous corneal endothelial cultures from healthy donors have shown encouraging outcomes, the feasibility of autologous cell therapy as a potential treatment for FECD remains challenging. Low initial cell concentration as well as endothelial to mesenchymal transition are the main obstacles to the application of FECD cultures in the clinical setting.


Asunto(s)
Lámina Limitante Posterior/cirugía , Queratoplastia Endotelial de la Lámina Limitante Posterior , Endotelio Corneal/citología , Distrofia Endotelial de Fuchs/cirugía , Anciano , Biomarcadores/metabolismo , Recuento de Células , Técnicas de Cultivo de Célula , Separación Celular , Endotelio Corneal/metabolismo , Femenino , Humanos , Masculino , Persona de Mediana Edad
5.
Eur J Ophthalmol ; 34(1): 89-94, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37113014

RESUMEN

PURPOSE: To evaluate the feasibility and outcomes of phased strabismus surgery under topical anesthesia, with intraoperative comparison of ocular alignment in supine and seated positions. METHODS: This retrospective clinical investigation analyzed the data of patients who underwent phased strabismus surgery with fixed sutures under topical anesthesia. The technique consisted of 2 phases, spaced out with an intraoperative alternate prism cover test (performed in supine and seated positions): (1) surgery on one or two muscles, as defined by a preoperative surgical plan; (2) if judged necessary, a further one-muscle surgery. Surgical success was defined as a residual angle of horizontal and vertical deviation ≤±8Δ and ≤5Δ, respectively, and the presence of single binocular vision in primary position in patients with preoperative diplopia. Follow-up visits were scheduled 1 day, 1 month, and 6 months after surgery. RESULTS: The review identified 38 patients (age range: 10-80 years). Surgery was well tolerated by all patients. Twelve (32%) required a second phase. No statistically significant differences were found for intraoperative angles of deviation in supine and seated positions. Surgical success was reached, respectively, in 88% and 87% of cases with horizontal and vertical deviation 6 months after surgery. No patients were reoperated during the follow-up period. CONCLUSIONS: Phased strabismus surgery is a feasible technique for various types of strabismus in adults and children. Secondly, intraoperative evaluation of ocular alignment can be performed either with the patient seated or supine, with the same accuracy in terms of surgical success.


Asunto(s)
Procedimientos Quirúrgicos Oftalmológicos , Estrabismo , Adulto , Niño , Humanos , Adolescente , Adulto Joven , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Estudios Retrospectivos , Procedimientos Quirúrgicos Oftalmológicos/métodos , Técnicas de Sutura , Músculos Oculomotores/cirugía , Estrabismo/cirugía , Anestesia Local/métodos , Visión Binocular/fisiología , Resultado del Tratamiento
6.
Cornea ; 43(2): 195-200, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-37788597

RESUMEN

PURPOSE: The aim of this study is to describe the variable phenotype of congenital corneal opacities occurring in patients with biallelic CYP1B1 pathogenic variants. METHODS: A retrospective chart review was conducted to identify patients with congenital corneal opacities and CYP1B1 pathogenic variants seen at UPMC Children's Hospital of Pittsburgh. Ophthalmic examination, high-frequency ultrasound, anterior segment optical coherence tomography, histopathologic images, and details of genetic testing were reviewed. RESULTS: Three children were identified. All presented with raised intraocular pressure. Two patients showed bilateral limbus-to-limbus avascular corneal opacification that did not resolve with intraocular pressure control; 1 showed unilateral avascular corneal opacity with a crescent of clear cornea, iridocorneal adhesions, iridolenticular adhesions, and classical features of congenital glaucoma in the fellow eye (enlarged corneal diameter, Haab striae, and clearing of the corneal clouding with appropriate intraocular pressure control). The first 2 patients were visually rehabilitated with penetrating keratoplasty. Histopathology revealed distinct features: a variably keratinized epithelium; a thick but discontinuous Bowman-like layer with areas of disruption and abnormal cellularity; Descemet membrane, when observed, showed reduced endothelial cells; and no pathological changes of Haab striae were identified. Two patients had compound heterozygous pathogenic variants in CYP1B1 causing premature stop codons, whereas 1 was homozygous for a pathogenic missense variant. CONCLUSIONS: Congenital corneal opacities seen in biallelic CYP1B1 pathogenic variants have a variable phenotype. One is that commonly termed as Peters anomaly type 1 (with iridocorneal adhesions, with or without iridolenticular adhesions) and the other is a limbus-to-limbus opacity, termed CYP1B1 cytopathy. Clinicians should be aware of this phenotypic variability.


Asunto(s)
Enfermedades de la Córnea , Opacidad de la Córnea , Niño , Humanos , Estudios Retrospectivos , Células Endoteliales , Opacidad de la Córnea/diagnóstico , Opacidad de la Córnea/genética , Opacidad de la Córnea/cirugía , Enfermedades de la Córnea/diagnóstico , Enfermedades de la Córnea/genética , Fenotipo , Variación Biológica Poblacional , Citocromo P-450 CYP1B1/genética
7.
Endocrine ; 2024 Mar 22.
Artículo en Inglés | MEDLINE | ID: mdl-38517640

RESUMEN

PURPOSE: To present a case and review the literature on Orbital Radiotherapy (OR) combined with intravenous methylprednisolone, focusing on its late application in patients with long-lasting active Graves' Orbitopathy (GO). Additionally, we suggest emerging perspective for future research in this context. METHOD: Relevant literature (randomized controlled studies, retrospective studies and reviews) was explored on PubMed from January 1973 to January 2024, searching "orbital radiotherapy" & "Graves disease". RESULTS: OR is a well-established second-line treatment for moderate-to-severe active GO, providing response rates comparable to glucocorticoids. Its anti-inflammatory effect makes OR particularly suitable for early active GO, and when combined with glucocorticoids, outcomes are synergistically improved. The emergence of the new Volumetric Modulated Arc Image-Guided Radiation Therapy (VMAT-IGRT) technique enables precise radiation delivery to the target, significantly reducing associated toxicity. This technological advancement enhances the feasibility of radiotherapy in benign diseases like GO. A retrospective study indicated that late OR in patients with long-lasting active GO may improve diplopia and visual acuity, decreasing disease activity. Our case report supports this conclusion. CONCLUSIONS: This report and literature review underscores the importance of considering late OR combined with intravenous methylprednisolone as a viable treatment option for GO patients with prolonged disease activity, emphasizing the crucial role of personalized therapy in managing GO. However, further investigations are warranted to validate this approach in cases of long-lasting active GO.

8.
Cardiovasc Diabetol ; 12: 112, 2013 Aug 05.
Artículo en Inglés | MEDLINE | ID: mdl-23915379

RESUMEN

BACKGROUND: Qualitative alterations of lipoproteins underlie the high incidence of atherosclerosis in diabetes. The objective of this study was to assess the impact of low-density lipoprotein (LDL) subfraction phenotype on the qualitative characteristics of LDL and high-density lipoprotein (HDL) in patients with type 2 diabetes. METHODS: One hundred twenty two patients with type 2 diabetes in poor glycemic control and 54 healthy subjects were included in the study. Patients were classified according to their LDL subfraction phenotype. Seventy-seven patients presented phenotype A whereas 45 had phenotype B. All control subjects showed phenotype A. Several forms of modified LDL, HDL composition and the activity and distribution of lipoprotein-associated phospholipase A2 (Lp-PLA2) were analyzed. RESULTS: Oxidized LDL, glycated LDL and electronegative LDL were increased in both groups of patients compared with the control group. Patients with phenotype B had increased oxidized LDL and glycated LDL concentration than patients with phenotype A. HDL composition was abnormal in patients with diabetes, being these abnormalities more marked in patients with phenotype B. Total Lp-PLA2 activity was higher in phenotype B than in phenotype A or in control subjects. The distribution of Lp-PLA2 between HDL and apoB-containing lipoproteins differed in patients with phenotype A and phenotype B, with higher activity associated to apoB-containing lipoproteins in the latter. CONCLUSIONS: The presence of LDL subfraction phenotype B is associated with increased oxidized LDL, glycated LDL and Lp-PLA2 activity associated to apoB-containing lipoproteins, as well as with abnormal HDL composition.


Asunto(s)
1-Alquil-2-acetilglicerofosfocolina Esterasa/metabolismo , Diabetes Mellitus Tipo 2/sangre , Lipoproteínas HDL/sangre , Lipoproteínas LDL/sangre , Adulto , Anciano , Arildialquilfosfatasa/metabolismo , Aterosclerosis/metabolismo , Estudios de Casos y Controles , HDL-Colesterol/sangre , LDL-Colesterol/sangre , Diabetes Mellitus Tipo 2/metabolismo , Angiopatías Diabéticas/metabolismo , Electroforesis en Gel de Poliacrilamida , Pruebas de Enzimas , Femenino , Productos Finales de Glicación Avanzada , Humanos , Lipoproteínas HDL/metabolismo , Lipoproteínas LDL/metabolismo , Masculino , Persona de Mediana Edad , Fenotipo , Triglicéridos/sangre
9.
Analyst ; 138(7): 2023-31, 2013 Apr 07.
Artículo en Inglés | MEDLINE | ID: mdl-23400028

RESUMEN

We have implemented a novel strategy for the oriented immobilization of antibodies onto a gold surface based on the use of a fusion protein, the protein A-gold binding domain (PAG). PAG consists of a gold binding peptide (GBP) coupled to the immunoglobulin-binding domains of staphylococcal protein A. This fusion protein provides an easy and fast oriented immobilization of antibodies preserving its native structure, while leaving the antigen binding sites (Fab) freely exposed. Using this immobilization strategy, we have demonstrated the performance of the immunosensing of the human Growth Hormone by SPR. A limit of detection of 90 ng mL(-1) was obtained with an inter-chip variability lower than 7%. The comparison of this method with other strategies for the direct immobilization of antibodies over gold surfaces has showed the enhanced sensitivity provided by the PAG approach.


Asunto(s)
Anticuerpos Inmovilizados , Técnicas Biosensibles/métodos , Oro/química , Proteína Estafilocócica A/inmunología , Secuencia de Aminoácidos , Oro/inmunología , Hormona de Crecimiento Humana/análisis , Hormona de Crecimiento Humana/inmunología , Humanos , Proteínas Recombinantes de Fusión/química , Resonancia por Plasmón de Superficie/métodos
10.
Cornea ; 42(5): 639-640, 2023 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-36727872

RESUMEN

PURPOSE: The aim of this study was to report a case of corneal plana-like phenotype with bilateral peripheral scleralization associated with a PITX2 pathogenic variant. METHODS: Clinical findings were obtained by ophthalmologic examination. Molecular diagnosis was performed by whole-exome sequencing in the patient and his parents. RESULTS: A 12-month-old male patient present with bilateral peripheral corneal scleralization, corneal plana-like phenotype, and iris hypoplasia. The genetic analysis revealed a de novo PITX2 pathogenic variant (c.323G>A, p.R108H). CONCLUSIONS: PITX2 c.323G>A (p.R108H) can be associated with a unique corneal plana-like phenotype with peripheral scleralization, and thus, PITX2 should be targeted in genetic testing of this specific phenotype.


Asunto(s)
Enfermedades de la Córnea , Proteínas de Homeodominio , Humanos , Masculino , Enfermedades de la Córnea/patología , Proteínas de Homeodominio/genética , Mutación , Linaje , Fenotipo , Factores de Transcripción/genética , Lactante , Proteína del Homeodomínio PITX2
11.
Eur J Ophthalmol ; 33(3): NP112-NP117, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-35345918

RESUMEN

The purpose of this study is to report a case of bilateral highly locally invasive conjunctival squamous neoplasia in the clinical setting of ocular cicatricial pemphigoid (OCP), and to review the available literature about this rare association.Case description: A man presented with chronic bilateral conjunctivitis and forniceal foreshortening. He had been previously diagnosed with OCP, and received proper therapy with systemic Dapsone and local steroids. After six months from treatment initiation, the patient complained of worsening symptoms and underwent two more biopsies, revealing a bilateral conjunctival squamous neoplasia. Conclusion: In rare cases, OCP can be associated with conjunctival squamous neoplasia. In case of suspected clinical modifications, it is important to make an early diagnosis by repeating several conjunctival biopsies or by performing less invasive diagnostic techniques (e.g. impression cytology of the ocular surface epithelium) to avoid unnecessary surgical damages.


Asunto(s)
Carcinoma de Células Escamosas , Neoplasias de la Conjuntiva , Conjuntivitis , Penfigoide Benigno de la Membrana Mucosa , Masculino , Humanos , Penfigoide Benigno de la Membrana Mucosa/complicaciones , Penfigoide Benigno de la Membrana Mucosa/diagnóstico , Penfigoide Benigno de la Membrana Mucosa/tratamiento farmacológico , Conjuntiva/patología , Conjuntivitis/diagnóstico , Conjuntivitis/tratamiento farmacológico , Conjuntivitis/etiología , Neoplasias de la Conjuntiva/complicaciones , Neoplasias de la Conjuntiva/diagnóstico , Neoplasias de la Conjuntiva/patología , Carcinoma de Células Escamosas/complicaciones , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patología
12.
Ophthalmic Genet ; 44(1): 6-10, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36541570

RESUMEN

BACKGROUND: Visual electrophysiology may be used to assess visual potential in infants with congenital corneal opacities (CCO). It is essential to recognize confounding effects from these opacities on the flash electroretinogram (ERG). METHODS: ERGs were recorded in awake children employing skin electrodes placed at the lower eyelid crease, both referred to a midfrontal electrode (Fz). A hand-held stimulator was used to present a mixed rod-cone and a dim white stimulus. Recordings were carried out before and after penetrating keratoplasty (PK), when performed. RESULTS: Five infants under the age of 12 months with visually significant CCO were evaluated. In all cases, initial ERGs employing the mixed rod-cone stimulus showed well-defined a-wave with reduced amplitude b-wave. Reduction of stimulus intensity resulted in an increase in the b-wave and normalization of the b:a ratio from 1.1 (range 0.7 to 1.3) to 2.8 (range 1.5 to 4.3). In three cases who underwent PK, the postoperative ERGs recorded with a mixed rod-cone stimulus were normal in waveform shape with a mean b:a ratio of 2.0 (range 1.7 to 3.0). CONCLUSION: Selective reduction of the scotopic bright flash ERG b-wave is typically caused by retinal dysfunction that is post-phototransduction or inner retinal. In infants with CCO, scotopic ERGs to bright flashes can show a reduced b:a ratio that improves or normalizes either after PK or stimulus intensity reduction. The study highlights that media opacity can contribute to the generation of an ERG with reduced b-wave in the absence of inner retinal dysfunction.


Asunto(s)
Opacidad de la Córnea , Enfermedades de la Retina , Niño , Humanos , Lactante , Estimulación Luminosa/métodos , Retina , Electrorretinografía/métodos , Opacidad de la Córnea/cirugía
13.
Ophthalmic Genet ; 44(2): 147-151, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36341706

RESUMEN

BACKGROUND: Although 8q21.11 microdeletion syndrome (8q21.11 DS) has been reported in association with congenital corneal opacities, reports of the clinicopathological features and management are scarce. METHODS: We reviewed medical records including ophthalmic evaluations, imaging, operative reports, and pathology reports of two unrelated patients referred to the Ophthalmology Clinic of UPMC Children's Hospital of Pittsburgh with a cytogenetic diagnosis of 8q21.11 DS. RESULTS: Ophthalmological evaluation of both children revealed bilateral enlarged, staphylomatous, and cloudy corneas with neovascularization. These findings were consistent with the diagnosis of congenital corneal staphyloma (CCS). In one patient, anterior segment optical coherence tomography and high-frequency ultrasound revealed materials consistent with lens remnants embedded in the cornea; this was confirmed by histopathology. In the second patient, lens was found to be adherent to the cornea during surgery. One eye underwent enucleation for corneal perforation secondary to elevated intraocular pressure. In the other eyes, treatment consisted of penetrating keratoplasty combined with vitrectomy. Ahmed tube was subsequently placed to control intraocular pressure. CONCLUSION: 8q21.11 microdeletion syndrome can be associated with bilateral CCS, likely related to a combination of anterior segment developmental anomalies and elevated intraocular pressure. Tectonic penetrating keratoplasty is necessary to prevent corneal perforation, together with a strict control of the intraocular pressure.


Asunto(s)
Trastornos de los Cromosomas , Opacidad de la Córnea , Perforación Corneal , Anomalías del Ojo , Glaucoma , Niño , Humanos , Trastornos de los Cromosomas/patología , Córnea/patología , Opacidad de la Córnea/diagnóstico , Perforación Corneal/complicaciones , Perforación Corneal/patología , Perforación Corneal/cirugía , Anomalías del Ojo/diagnóstico , Glaucoma/patología , Queratoplastia Penetrante/métodos
14.
J Cataract Refract Surg ; 49(8): 848-852, 2023 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-37052155

RESUMEN

PURPOSE: To compare the refractive results of combined Descemet membrane endothelial keratoplasty (DMEK) and cataract surgery in eyes with Fuchs endothelial corneal dystrophy (FECD) with and without topographic hot spots. SETTING: "Villa Igea" Hospital, Forlì, Italy. DESIGN: Interventional case series. METHODS: 57 eyes of 52 patients with FECD undergoing combined DMEK, cataract surgery, and monofocal intraocular lens (IOL) implantation were included in this single-center study. Patients were classified based on the presence or absence of topographic hot spots on the preoperative axial power map. Prediction error (PE) was calculated as the postoperative manifest spherical equivalent (SE) refraction minus the SE predicted refraction. RESULTS: 6 months postoperatively, mean PE was +0.79 ± 1.12 diopters (D). In eyes with hot spots, mean keratometry (K), K flat, and K steep significantly decreased after surgery (all P < .05), whereas no significant changes were observed in eyes without hot spots (all P > .05). Eyes with hot spots showed a significantly more hyperopic PE than eyes without hot spots (+1.13 ± 1.23 vs +0.40 ± 0.86 D; P = .013). CONCLUSIONS: Combined DMEK and cataract surgery can result in a hyperopic refractive surprise. The presence of topographic hot spots before surgery is associated with a higher hyperopic shift.


Asunto(s)
Catarata , Queratoplastia Endotelial de la Lámina Limitante Posterior , Distrofia Endotelial de Fuchs , Lentes Intraoculares , Facoemulsificación , Humanos , Agudeza Visual , Implantación de Lentes Intraoculares , Refracción Ocular , Distrofia Endotelial de Fuchs/complicaciones , Distrofia Endotelial de Fuchs/cirugía , Catarata/complicaciones , Estudios Retrospectivos
15.
Cornea ; 42(3): 344-350, 2023 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-36455075

RESUMEN

PURPOSE: The purpose of this study was to describe the deep phenotype of congenital corneal opacities (CCO) in patients with 22q11.2 deletion syndrome (22q11.2 DS) and to identify putative regions or genes that could explain the CCO. METHODS: A retrospective chart review was conducted to identify patients with 22q11.2 DS seen in the ophthalmology clinic of a tertiary referral children's hospital. Thirty patients were identified, with molecular confirmation. Twenty-six did not show structural anterior segment anomalies aside from posterior embryotoxon (n = 4), whereas 4 had bilateral CCO, of which 3 had preoperative images. We reviewed medical, operative, and pathology reports; anterior segment optical coherence tomography; high-frequency ultrasound; histopathologic slides; and genetic testing. To identify putative genes responsible for CCO, chromosomal breakpoints in patients with and without CCO were compared. RESULTS: In the 3 patients with preoperative imaging and CCO, a pattern of paracentral corneal opacification with central clearing accompanied by iridocorneal or keratolenticular adhesions was observed. Anterior segment optical coherence tomography and histopathologic images showed central stromal thinning with a residual structure consistent with Descemet membrane. One patient presented at birth with unilateral corneal perforation, suggestive of likely stromal thinning. A comparison of the breakpoints across all cases failed to reveal unique regions or genes in patients with CCO. CONCLUSIONS: 22q11.2 DS can rarely be associated with CCO. We describe a consistent pattern of central clearing related to posterior stromal thinning, with or without ICA/KLA. Possible candidate genes for corneal opacification in 22q11.2 DS remain elusive.


Asunto(s)
Opacidad de la Córnea , Perforación Corneal , Síndrome de DiGeorge , Anomalías del Ojo , Humanos , Opacidad de la Córnea/diagnóstico , Opacidad de la Córnea/genética , Opacidad de la Córnea/congénito , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/genética , Estudios Retrospectivos
16.
Cornea ; 42(6): 770-775, 2023 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-36735292

RESUMEN

PURPOSE: Ocular surface lipodermoids with corneal involvement may require surgical intervention; if deep, ocular surface reconstruction with lamellar corneal tissue or amniotic membrane may be needed. We describe a staged technique using autologous ipsilateral simple limbal epithelial transplantation. METHODS: After verifying sparing of Descemet membrane, the conjunctival portion of the lipodermoid was debulked in the first stage. Six weeks later, the corneal portion was excised, followed by autologous ipsilateral simple limbal epithelial transplantation to promote rapid reepithelialization of the residual stromal bed. Temporary tarsorrhaphy was used for patient comfort and to expedite ocular surface healing. RESULTS: Three eyes of 3 children with grade III large ocular surface lipodermoids that encroached the visual axis and hindered proper eyelid closure underwent surgery without complications. In all cases, the visual axis was cleared and eyelid closure was improved. At the last follow-up (mean 35.7 months, median 36.0 months), the bed of the original dermoid showed minimal haze in 1 case, while 2 eyes developed small pseudopterygium; best spectacle-corrected visual acuity improved from 20/200 to 20/70 in the first case, from fix and follow to 20/50 in the second case, and remained fix and follow in the last case, but this child had congenital hydrocephalus with severe developmental delay. CONCLUSIONS: This surgical technique is a promising option for children with grade III large ocular surface lipodermoids given its effectiveness in clearing the visual axis and in improving eyelid closure. Moreover, it does not require lamellar corneal transplantation or intervention to the fellow eye.


Asunto(s)
Enfermedades de la Córnea , Trasplante de Córnea , Epitelio Corneal , Quemaduras Oculares , Limbo de la Córnea , Humanos , Niño , Agudeza Visual , Córnea/cirugía , Enfermedades de la Córnea/cirugía , Trasplante de Córnea/métodos , Trasplante Autólogo , Quemaduras Oculares/cirugía
17.
BMJ Open Ophthalmol ; 7(1)2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-36161826

RESUMEN

OBJECTIVE: To analyse corneal tissues from asymptomatic donors with a postmortem nasopharyngeal swab tested positive for the presence of SARS-CoV-2 RNA, and therefore, understand the role that corneal transplantation may have in viral transmission. METHODS AND ANALYSIS: Between March 2020 and October 2021, 101 corneas (out of 8154 collected in Italy) from 51 donors (out of a total of 4155 Italian donors) positive for SARS-CoV-2 after postmortem nasopharyngeal swab tests were analysed for the presence of SARS-CoV-2 RNA through real-time RT-PCR. When available, the corneal tissue storage media were also assessed. Corneas and/or storage media with confirmed presence of SARS-CoV-2 RNA were further investigated by isolating SARS-CoV-2 virions, which were used to infect VeroE6 target cells. RESULTS: Only N=4 corneas and/or storage media out of 101 showed presence of SARS-CoV-2 RNA. No VeroE6 cell infection was detected with viral isolates, thus suggesting no presence of SARS-CoV-2 virions in corneal specimens and storage media. CONCLUSIONS: The presence of SARS-CoV-2 in cornea specimens would seem to be more likely due to prolonged detection of RNA rather than to active viral replication, with very low risk of infectivity and transmission through keratoplasty.


Asunto(s)
COVID-19 , COVID-19/epidemiología , Córnea/química , Humanos , Pandemias , ARN Viral/genética , SARS-CoV-2/genética
18.
Acta Ophthalmol ; 100(6): e1306-e1312, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35678335

RESUMEN

PURPOSE: To evaluate the outcomes of various lamellar keratoplasty techniques performed at our Institution in children aged 14 years or younger over the last decade. METHODS: This single-centre study reviewed 72 eyes that underwent lamellar keratoplasty for various indications. Deep anterior lamellar keratoplasty (DALK) was performed in 19 eyes, mushroom penetrating keratoplasty (PK) in 27 eyes and Descemet stripping automated endothelial keratoplasty (DSAEK) in 25 eyes. The main outcome measures included best spectacle-corrected visual acuity (BSCVA), complications and rate of graft failure which was defined as any graft requiring repeat transplantation. RESULTS: Best spectacle-corrected visual acuity (BSCVA) significantly improved after DALK, mushroom PK and DSAEK (all p < 0.05), with 50%, 60% and 56% of eyes reaching ≥20/40, respectively. Stromal rejection was observed in 1 eye (5.3%) after DALK, whilst endothelial rejection occurred in 1 eye after mushroom PK (3.7%) and 1 eye after DSAEK (4.0%). Overall survival was 100% after DALK (mean follow-up: 23.0 months), 92.8% after mushroom PK (mean follow-up: 42.3 months) and 96.0% after DSAEK (mean follow-up: 33.6 months). CONCLUSION: Deep anterior lamellar keratoplasty (DALK), mushroom PK and DSAEK offer good visual outcomes for children with corneal pathology, with low rates of immunological rejection and graft failure.


Asunto(s)
Enfermedades de la Córnea , Trasplante de Córnea , Queratoplastia Endotelial de la Lámina Limitante Posterior , Niño , Enfermedades de la Córnea/patología , Enfermedades de la Córnea/cirugía , Queratoplastia Endotelial de la Lámina Limitante Posterior/métodos , Endotelio Corneal/patología , Supervivencia de Injerto , Humanos , Queratoplastia Penetrante , Estudios Retrospectivos , Resultado del Tratamiento , Agudeza Visual
19.
Front Oncol ; 12: 828112, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35480119

RESUMEN

Uveal melanoma (UM) is the most frequently found primary intraocular tumor, although it accounts for only 5% of all melanomas. Despite novel systemic therapies, patient survival has remained poor. Indeed, almost half of UM patients develop metastases from micro-metastases which were undetectable at diagnosis. Genetic analysis is crucial for metastatic risk prediction, as well as for patient management and follow-up. Several prognostic parameters have been explored, including tumor location, basal dimension and thickness, histopathologic cell type, vascular mimicry patterns, and infiltrating lymphocytes. Herein, the Authors review the available literature concerning cytogenetic prognostic markers and biochemical pathways correlated to UM metastasis development.

20.
Br J Ophthalmol ; 105(12): 1651-1655, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-33011685

RESUMEN

BACKGROUND/AIMS: To report the 10-year outcomes of modified microkeratome-assisted lamellar keratoplasty (LK) for keratoconus. METHODS: In this single-centre interventional case series, 151 consecutive eyes with keratoconus underwent modified microkeratome-assisted LK. Eyes with scars extending beyond the posterior half of the corneal stroma and preoperative thinnest-point pachymetry value of less than 300 µm were excluded. Outcome measures were best spectacle-corrected visual acuity (BSCVA), refractive astigmatism (RA), endothelial cell density, immunological rejection, ectasia recurrence and graft failure rates. RESULTS: Baseline BSCVA (0.89±0.31 logarithm of the minimum angle of resolution (logMAR)) significantly improved to 0.10±0.12 logMAR at year 3 (p<0.001), and remained stable up to 10 years. At 10 years, 94% of eyes saw ≥20/40, 61% saw ≥20/25 and 24% saw ≥20/20 Snellen BSCVA. At final follow-up, RA exceeding 4.5 dioptres was observed in 5 cases (4%). Endothelial cell loss was 25±17% at 1 year with an annual decline of 2% over 10 years. The 10-year cumulative risk for immunological rejection and graft failure was 8.5%, and 2.4%, respectively. No case developed recurrent ectasia at 10 years. CONCLUSION: Modified microkeratome-assisted LK results in stable visual and refractive outcomes with low rates of immunological rejection and graft failure in the absence of recurrence of ectasia for at least 10 years.


Asunto(s)
Trasplante de Córnea , Queratocono , Trasplante de Córnea/métodos , Dilatación Patológica , Estudios de Seguimiento , Humanos , Queratocono/cirugía , Queratoplastia Penetrante/métodos , Refracción Ocular , Estudios Retrospectivos , Resultado del Tratamiento
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