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1.
Cornea ; 2024 Jul 17.
Artículo en Inglés | MEDLINE | ID: mdl-39023318

RESUMEN

PURPOSE: The aim of this review is to examine the techniques, complications, and outcomes of Descemet membrane endothelial keratoplasty (DMEK) in aphakic, aniridic, and vitrectomized eyes. METHODS: A literature search was conducted in the MEDLINE database (via PubMed), using as keywords "(DMEK) AND (aphakia OR aniridia OR vitrectomy OR vitrectomized)." The research was limited to 10 years (January 2014-March 2024), in view of lack of literature before 2014. Articles, including case reports and case series, were included. RESULTS: Twenty articles were included. No randomized controlled trials were found nor comparative studies with more than 1 technique used. Mean rebubbling rate in complex eyes was 29%, whereas mean endothelial cell loss at 6 months was 37%. The mean postoperative visual acuity improved from 1.47 logarithm of the minimal angle of resolution to 0.7 logarithm of the minimal angle of resolution. CONCLUSIONS: Despite being more challenging, compared with the techniques reported in literature, DMEK can be considered a valid option for the management of endothelial decompensation in complex eyes, with rebubbling rate and endothelial cell loss at 6 months, which are similar to non-complex eyes.

3.
Surv Ophthalmol ; 2024 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-38885760

RESUMEN

Acanthamoeba keratitis (AK) is a rare, sight-threating corneal infection. The disease is challenging to diagnose and treat, and the amoeba can rapidly encyst, persisting in the tissue and causing recurrences. Medical therapy is conventionally considered the first line treatment, but advanced cases could require more invasive treatments like a "chaud" corneal transplant. We review the incidence of severe complications in patients affected by AK. Of 439 reports screened, 158 met our inclusion criteria. Incidence of severe complications was low, with 2.21 % patients developing perforation, 1 % requiring evisceration/enucleation and less than 1 % developing endophthalmitis. Corneal transplantation was required in 16.68 % of the cases. According to our results, and considering the reported incidences of these complications in other infectious keratitis, AK patients have an overall low risk of developing perforation, endophthalmitis, and enucleation/evisceration. Nevertheless, data available in the literature remain poor, and further randomized control trials are needed to confirm our findings.

4.
Eye (Lond) ; 38(10): 1947-1957, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38806699

RESUMEN

OBJECTIVES: To validate and update the 2013 James Lind Alliance (JLA) Sight Loss and Vision Priority Setting Partnership (PSP)'s research priorities for Ophthalmology, as part of the UK Clinical Eye Research Strategy. METHODS: Twelve ophthalmology research themes were identified from the JLA report. They were allocated to five Clinical Study Groups of diverse stakeholders who reviewed the top 10 research priorities for each theme. Using an online survey (April 2021-February 2023), respondents were invited to complete one or more of nine subspecialty surveys. Respondents indicated which of the research questions they considered important and subsequently ranked them. RESULTS: In total, 2240 people responded to the survey (mean age, 59.3 years), from across the UK. 68.1% were female. 68.2% were patients, 22.3% healthcare professionals or vision researchers, 7.1% carers, and 2.1% were charity support workers. Highest ranked questions by subspecialty: Cataract (prevention), Cornea (improving microbial keratitis treatment), Optometric (impact of integration of ophthalmic primary and secondary care via community optometric care pathways), Refractive (factors influencing development and/or progression of refractive error), Childhood onset (improving early detection of visual disorders), Glaucoma (effective and improved treatments), Neuro-ophthalmology (improvements in prevention, diagnosis and treatment of neurodegeneration affecting vision), Retina (improving prevention, diagnosis and treatment of dry age-related macular degeneration), Uveitis (effective treatments for ocular and orbital inflammatory diseases). CONCLUSIONS: A decade after the initial PSP, the results refocus the most important research questions for each subspecialty, and prime targeted research proposals within Ophthalmology, a chronically underfunded specialty given the substantial burden of disability caused by eye disease.


Asunto(s)
Investigación Biomédica , Oftalmología , Humanos , Reino Unido , Oftalmología/organización & administración , Femenino , Masculino , Persona de Mediana Edad , Oftalmopatías/terapia , Oftalmopatías/diagnóstico , Encuestas y Cuestionarios , Prioridades en Salud , Adulto , Anciano
5.
J Clin Med ; 13(5)2024 Feb 29.
Artículo en Inglés | MEDLINE | ID: mdl-38592231

RESUMEN

Background: Traumatic injuries in eyes previously treated with Deep Anterior Lamellar Keratoplasty (DALK) can lead to ruptures in the Descemet Membrane (DM) and damage to the corneal endothelium, a crucial layer for maintaining corneal clarity. Due to cell cycle constraints, the human corneal endothelium cannot proliferate; instead, it compensates for injury through cell enlargement and migration from adjacent areas. Methods: This study examines a notable case of corneal endothelial cell migration following a penetrating eye injury in a patient previously treated with DALK for keratoconus, supplemented by a review of relevant literature to contextualize the regenerative response. Results: A 39-year-old male with a history of DALK suffered a traumatic eye injury, resulting in damage to the Descemet Membrane and loss of the crystalline lens. After primary repair and considerations for further surgery, the patient's cornea cleared remarkably, with an improved visual acuity. This demonstrates the DM's potential for self-repair through endothelial cell migration. Conclusions: The outcomes suggest that delaying corneal transplant surgery for up to 3 months following Descemet Membrane injury due to ocular trauma could be advantageous. Allowing time for natural healing processes might eliminate the need for further invasive surgeries, thereby improving patient recovery outcomes.

6.
Stud Health Technol Inform ; 313: 215-220, 2024 Apr 26.
Artículo en Inglés | MEDLINE | ID: mdl-38682533

RESUMEN

BACKGROUND: Tele-ophthalmology is gaining recognition for its role in improving eye care accessibility via cloud-based solutions. The Google Cloud Platform (GCP) Healthcare API enables secure and efficient management of medical image data such as high-resolution ophthalmic images. OBJECTIVES: This study investigates cloud-based solutions' effectiveness in tele-ophthalmology, with a focus on GCP's role in data management, annotation, and integration for a novel imaging device. METHODS: Leveraging the Integrating the Healthcare Enterprise (IHE) Eye Care profile, the cloud platform was utilized as a PACS and integrated with the Open Health Imaging Foundation (OHIF) Viewer for image display and annotation capabilities for ophthalmic images. RESULTS: The setup of a GCP DICOM storage and the OHIF Viewer facilitated remote image data analytics. Prolonged loading times and relatively large individual image file sizes indicated system challenges. CONCLUSION: Cloud platforms have the potential to ease distributed data analytics, as needed for efficient tele-ophthalmology scenarios in research and clinical practice, by providing scalable and secure image management solutions.


Asunto(s)
Nube Computacional , Oftalmología , Telemedicina , Humanos , Sistemas de Información Radiológica , Almacenamiento y Recuperación de la Información/métodos
7.
Eur J Ophthalmol ; : 11206721241248305, 2024 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-38659359

RESUMEN

Smartphones are increasingly relevant resources in medical practice as they are ubiquitous and reasonably cheap. Among the advantages of using smartphones in medical practise, there is the possibility of obtaining reproducible photographic documentation of various conditions. This is particularly true in the ophthalmic field, where anterior segment color photography plays a significant role in the diagnosis and the management of ocular surface diseases. Here we propose an original design for an open-source smartphone accessory for taking and sharing high-definition photographs of the anterior segment. It can be easily reproduced via 3D printing, and it only needs to be integrated with an intraocular lens (IOL), widely available to the majority of ophthalmologists. Compared to other solutions described previously, it allows a precise and reproducible placement of the IOL on the smartphone camera, avoiding manual positioning that could result tricky and time-consuming. The IOL holder is cheap, scalable, portable and it can be quickly assembled and disassembled, without permanently modifying the smartphone camera.

9.
Cornea ; 2024 Mar 08.
Artículo en Inglés | MEDLINE | ID: mdl-38471010

RESUMEN

PURPOSE: To compare the performance of 3 commercially available tomographers (the Pentacam Scheimpflug camera, the swept-source optical coherence tomography Casia, and the blue light slit-scanning tomographer Precisio) in the identification of patterns associated with Fuchs endothelial corneal dystrophy (FECD) decompensation. METHODS: This was a clinic-based cross-sectional imaging study. Pachymetry maps and posterior surface elevation maps were acquired with the 3 devices from 61 eyes affected by FECD. The maps were graded according to the evidence of tomographic patterns predictive of FECD decompensation (loss of parallel isopachs, displacement of the thinnest point, and focal posterior depression) by 2 blind cornea specialists. RESULTS: The loss of parallel isopachs was significantly less frequently evident in Pentacam pachymetry maps [8%, 95% confidence interval (CI) (3%, 18%)] compared with both the Casia [31%, 95% CI (20%, 44%), P = 0.01] and Precisio devices [24%, 95% CI (15%, 37%), P = 0.05]. The displacement of the thinnest point was graded as most evident in a significantly higher proportion of Precisio pachymetry maps [43%, 95% CI (31%, 55%)] compared with both the Pentacam [13%, 95% CI (6%, 24%), P = 0.001] and Casia devices [21%, 95% CI (12%, 33%), P = 0.03]. There were no significant differences in the identification of focal posterior depression on posterior elevation maps across the 3 devices. CONCLUSIONS: Identification of patterns predictive of FECD prognosis on pachymetry and posterior elevation maps is possible with different devices. However, their evidence varies across tomographers, and the results from different devices are not interchangeable.

11.
Eur J Ophthalmol ; 34(3): NP22-NP28, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38387873

RESUMEN

PURPOSE: To report a challenging Descemet Membrane Endothelial Keratoplasty (DMEK) case, complicated by intraoperative aqueous misdirection and spontaneous anterior chamber fibrin reaction. METHODS: A 70-year-old female affected by corneal edema due to Fuchs endothelial dystrophy underwent a triple procedure (cataract extraction - IOL implantation - DMEK surgery) in her left eye. This report illustrates the management of the intraoperative complications of aqueous misdirection syndrome and anterior chamber fibrin reaction. RESULTS: Despite the optimal management of the posterior pressure and the thorough removal of the fibrinous reaction during the case, the DMEK graft was not completely unfolded and centred at the end of the surgical procedure. Nonetheless, the patient showed good long-term anatomical and functional recovery: at the last follow-up (2 years after surgery), central corneal thickness was 526 µm with a best corrected visual acuity of 20/25 and an endothelial cell density of 1112 cell/mm2. CONCLUSION: Early recognition and prompt management of intraoperative aqueous misdirection syndrome and anterior chamber fibrin reaction during DMEK surgery is essential to ensure good functional and anatomical outcomes.


Asunto(s)
Edema Corneal , Queratoplastia Endotelial de la Lámina Limitante Posterior , Distrofia Endotelial de Fuchs , Complicaciones Intraoperatorias , Agudeza Visual , Humanos , Femenino , Anciano , Distrofia Endotelial de Fuchs/cirugía , Distrofia Endotelial de Fuchs/fisiopatología , Agudeza Visual/fisiología , Edema Corneal/diagnóstico , Edema Corneal/etiología , Edema Corneal/cirugía , Implantación de Lentes Intraoculares , Cámara Anterior/patología , Cámara Anterior/cirugía , Tomografía de Coherencia Óptica , Humor Acuoso/metabolismo
12.
BMJ Open Ophthalmol ; 9(1)2024 Jan 25.
Artículo en Inglés | MEDLINE | ID: mdl-38272533

RESUMEN

OBJECTIVE: To evaluate the Descemet membrane endothelial keratoplasty (DMEK) preparation performance of trainee surgeons in an ex vivo human donor cornea DMEK wet lab simulation setting. METHODS: Human donor corneoscleral rims unsuitable for transplantation were obtained from Moorfields Lions Eye Bank. At the wet lab, graft stripping was performed by scoring the peripheral endothelium. The trypan blue positive cells (TBPC) and cell density (cells/mm2-reticule count) were counted manually before and after stripping. The procedural time, peripheral and central tears and complete peel-off were also recorded and analysed. RESULTS: Eight trainee surgeons attended the wet lab each attempting three DMEKs. Between the first and last attempts a significant decrease was seen in the procedural time (17.6 min vs 10.6 min (p<0.05)) and the TBPC % (12.9% vs 3.8% (p<0.05)). The percentage of tears peripherally and centrally also reduced between the first and the last trials (50% vs 13% (p=0.2226) and 38% vs 0% (p=0.1327)). A significant correlation was found between longer peeling times and higher TBPC % (p<0.001) with a 0.7% endothelial mortality increase for each additional minute required to complete the peel. CONCLUSIONS: DMEK wet labs provide a controlled risk-free learning opportunity for trainee surgeons to improve confidence and competence. Wet labs improve the success rate of DMEK graft preparation as well as flatten the learning curve. This emphasises the importance of continued support for the expansion of this valuable learning resource, promoting wider uptake of DMEK surgery.


Asunto(s)
Queratoplastia Endotelial de la Lámina Limitante Posterior , Humanos , Córnea/cirugía , Bancos de Ojos , Donantes de Tejidos , Curva de Aprendizaje , Azul de Tripano
13.
Surv Ophthalmol ; 69(3): 465-482, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38199504

RESUMEN

The cornea is the most frequently transplanted human tissue, and corneal transplantation represents the most successful allogeneic transplant worldwide. In order to obtain good surgical outcome and visual rehabilitation and to ensure the safety of the recipient, accurate screening of donors and donor tissues is necessary throughout the process. This mitigates the risks of transmission to the recipient, including infectious diseases and environmental contaminants, and ensures high optical and functional quality of the tissues. The process can be divided into 3 stages: (1) donor evaluation and selection before tissue harvest performed by the retrieval team, (2) tissue analysis during the storage phase conducted by the eye bank technicians after the retrieval, and, (3) tissue quality checks undertaken by the surgeons in the operating room before transplantation. Although process improvements over the years have greatly enhanced safety, quality, and outcome of the corneal transplants, a lack of standardization between centers during certain phases of the process still remains, and may impact on the quality and number of transplanted corneas. Here we detail the donor screening process for the retrieval teams, eye bank operators. and ophthalmic surgeons and examine the limitations associated with each of these stages.


Asunto(s)
Trasplante de Córnea , Bancos de Ojos , Garantía de la Calidad de Atención de Salud , Donantes de Tejidos , Humanos , Trasplante de Córnea/métodos , Trasplante de Córnea/normas , Bancos de Ojos/normas , Selección de Donante/normas , Selección de Donante/métodos , Córnea , Obtención de Tejidos y Órganos/normas , Enfermedades de la Córnea/cirugía
14.
Am J Ophthalmol ; 261: 165-175, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38211781

RESUMEN

PURPOSE: To investigate the reduction of the ocular surface bacterial load induced by 2 commercially available ophthalmic antiseptic formulations, povidone-iodine (PVI) 0.6% and chlorhexidine (CLX) 0.02%, before ocular surgery. DESIGN: Randomized controlled trial. METHODS: Seventy adult patients undergoing intraocular surgery (phacoemulsification) were randomized to receive in the index eye PVI (group A) 4 times a day for 3 days or CLX (group B) 4 times a day for 3 days before surgery. The untreated eye was used as control. A conjunctival swab was taken in both eyes before (T0) and after (T1) therapy. Microbial DNA was quantified with real-time polymerase chain reaction (PCR) analysis. The Mick algorithm was used to compare the abundance of each genus/genera against the distribution of abundances from the reference. At T1, patients filled a questionnaire to evaluate therapy-induced symptoms. Primary outcome was the reduction of bacterial DNA at T1 (microbial load), vs control arm, expressed as mean number of real-time PCR cycle times (CTs). Secondary outcomes were taxonomic composition, differential abundance, and therapy-induced ocular symptoms. RESULTS: The T0-T1 difference in CT was significant in group B, but not in group A (mean [95% CI], 0.99 [0.33] vs 0.26 [0.15], P < .001, and 0.65 [0.3] vs 0.45 [0.41], P = .09, respectively). The taxonomic composition, alpha, and beta diversity remained consistent at all time points in both groups. The rate of patients reporting therapy-induced ocular symptoms and the mean discomfort grade were greater in group A than in group B (97% vs 26% and 4.97±2.48 vs 0.66±1.53, respectively). CONCLUSIONS: Compared with PVI 0.6%, CLX 0.02% induced a greater reduction of ocular surface bacterial load, with no significant alterations of the taxonomic composition. Moreover, CLX was better tolerated than PVI.


Asunto(s)
Antiinfecciosos Locales , Oftalmología , Adulto , Humanos , Carga Bacteriana , Povidona Yodada , Clorhexidina/uso terapéutico , Conjuntiva/microbiología , Soluciones Oftálmicas
15.
Acta Ophthalmol ; 102(3): e215-e228, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-37427851

RESUMEN

Topical antimicrobials and antiseptics are used perioperatively to reduce the ocular surface bacteria flora (OSBF) that are involved in the development of post-operative infectious complications. However, their effectiveness is still a controversial topic. This systematic review, performed according to the PRISMA guidelines and registered in PROSPERO, aims to provide an overview of the efficacy of the agents currently used in peri-cataract surgery and -intravitreal injections (IVI) in lowering the OSBF. Although effective in lowering OSBF, perioperative topical antimicrobials are associated with the risk of resistance development, with no obvious additional benefit compared with topical antisepsis. Conversely, the effectiveness of topical antiseptics before cataract surgery and IVI is strongly supported. Based on the available evidence, perioperative antimicrobials are not recommended, whereas the perioperative use of antiseptics is strongly recommended as prophylactic treatment for lowering the infection due to OSBF. Post-operative antimicrobials may be considered in eyes at higher risk for infection.


Asunto(s)
Antiinfecciosos Locales , Catarata , Humanos , Antibacterianos/uso terapéutico , Bacterias , Ojo
16.
Cornea ; 43(3): 285-294, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-37699556

RESUMEN

PURPOSE: The aim of this study was to report the 12 to 96 months results of a tissue-preservation algorithm based on ray-tracing-guided transepithelial excimer laser central corneal ablation (RT t-PRK) combined with individualized pachymetry-guided accelerated crosslinking (M nomogram ACXL) in young adult patients with stable keratoconus (KC). METHODS: This was a prospective interventional study including 38 eyes of 38 young adult patients (stage II KC) with a mean age of 35 years (range 26-46 years) who underwent simultaneous RT with t-PRK plus pachymetry-based ACXL in the worst eye. The treatments were performed using the iViS Suite iRES Excimer Laser (Ligi, Taranto, Italy). Ray-tracing-guided treatments were planned using the customized interactive programmed transepithelial ablation (CIPTA) 2 web software and diagnostic data were assessed by the Precisio 2 tomographer (Ligi, Taranto, Italy) and Sirius tomographer (C.S.O., Florence, Italy). The main outcome measures included uncorrected distance visual acuity, best spectacle-corrected visual acuity, Kmax, high-order aberrations, minimum corneal thickness, and posterior elevation, with a mean follow-up of 52 months (range 12-96 m). RESULTS: The mean UDVA improved + 3.5 ±1.28 Snellen lines (SL); 38% gained ≥ 4 ±1.34 SLs, 35% ≥ 3 ±1.21 SLs, 22% ≥ 2 ±1.12 SLs, and 5% ≥ 1 ±0.75 SLs. The mean best spectacle-corrected visual acuity increased by + 4.3 ±1.3 SL. Sixty-eight percent gained ≥ 4 ±0.88 SLs and 30% ≥ 3 ±0.78 SL. No SLs were lost. CONCLUSIONS: RT t-PRK plus ACXL significantly improved the quality of vision in patients with KC, preventing overcorrection and minimizing tissue consumption.


Asunto(s)
Queratocono , Queratectomía Fotorrefractiva , Adulto Joven , Humanos , Adulto , Persona de Mediana Edad , Queratocono/tratamiento farmacológico , Queratocono/cirugía , Láseres de Excímeros/uso terapéutico , Estudios Prospectivos , Topografía de la Córnea/métodos , Córnea/cirugía , Reactivos de Enlaces Cruzados/uso terapéutico , Fármacos Fotosensibilizantes/uso terapéutico , Queratectomía Fotorrefractiva/métodos
17.
Acta Ophthalmol ; 102(1): e22-e30, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37155336

RESUMEN

To compare the outcomes of Descemet membrane endothelial keratoplasty (DMEK) performed after phacoemulsification and intraocular lens (IOL) implantation (sequential DMEK) and DMEK combined with phacoemulsification and IOL implantation (combined DMEK) in patients with Fuchs endothelial corneal dystrophy (FECD) and cataract. Systematic literature review and meta-analysis performed according to the PRISMA guidelines and registered in PROSPERO. Literature searches were conducted in Medline and Scopus. Comparative studies reporting sequential DMEK and combined DMEK in FECD patients were included. The main outcome measure of the study was the corrected distance visual acuity (CDVA) improvement. Secondary outcomes were postoperative endothelial cell density (ECD), rebubbling rate and primary graft failure rate. Bias risk was assessed and a quality appraisal of the body of evidence was completed using the Cochrane Robin-I tool. A total of 667 eyes (5 studies) were included in this review, 292 eyes (43.77%) underwent a combined DMEK, while 375 (56.22%) eyes underwent a sequential DMEK surgery. We found no evidence of a difference between the two groups (mean difference, 95% CI) regarding: (1) CDVA improvement (-0.06; -0.14, 0.03 LogMAR; 3 studies, I2 : 0%; p = 0.86); (2) postoperative ECD (-62; -190, 67 cells/mm2 ; 4 studies, I2 : 67%; p = 0.35); (3) rebubbling (risks ratio: 1.04; 0.59, 1.85; 4 studies, I2 : 48%; p = 0.89); and primary graft failure rate (risks ratio: 0.91; 0.32, 2.57; 3 studies, I2 : 0%; p = 0.86). Of all the 5 non-randomized studies, all (100%) were graded as low quality. The overall quality of the analysed studies was low. Randomized controlled trials are needed to confirm no difference or superiority of one approach in terms of CDVA, endothelial cell count and postoperative complication rate between the two arms.


Asunto(s)
Catarata , Queratoplastia Endotelial de la Lámina Limitante Posterior , Distrofia Endotelial de Fuchs , Humanos , Distrofia Endotelial de Fuchs/cirugía , Endotelio Corneal/trasplante , Queratoplastia Endotelial de la Lámina Limitante Posterior/efectos adversos , Estudios Retrospectivos , Lámina Limitante Posterior/cirugía , Catarata/complicaciones , Recuento de Células
18.
Eur J Ophthalmol ; 34(1): 287-291, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37861107

RESUMEN

PURPOSE: To describe a new method for delivering DMEK grafts into the recipient's eye with endothelium inward configuration using a no-forceps injection technique. METHODS: We retrospectively review 11 patients that underwent DMEK surgery at our institution using a no-forceps injection technique. The graft was preloaded into an intraocular lens (IOL) cartridge and connected to an anterior chamber maintainer (ACM). A 5 ml non luer lock syringe was inserted into the other end of the ACM to create a one-flow system. The cartridge was inserted into the posterior end of an injector, and the graft was successfully delivered into the recipient's eye. RESULT: Twelve eyes of 11 patients were included. Mean follow-up was 9.16 ± 1.3 months. At baseline, mean best corrected visual acuity (BCVA) was 0.76 ± 0.13 logMAr and mean endothelial cell density (ECD) was 2619.00 ± 115.89 cells/mm2. At follow-up, BCVA significantly improved to 0.22 ± 0.05 logMAR (p = 0.003). Although we observed a significant reduction in ECD at follow-up (1688 ± 182.20, p = 0.002), our patients lost only 35.69 ± 6.36% of endothelial cells. CONCLUSION: Our technique can help surgeons safely deliver an endothelium-in graft into the recipient's eye. The method doesn't require the use of a forceps, minimizing the risk of endothelial cell loss or graft damage.


Asunto(s)
Queratoplastia Endotelial de la Lámina Limitante Posterior , Distrofia Endotelial de Fuchs , Humanos , Lámina Limitante Posterior/cirugía , Distrofia Endotelial de Fuchs/cirugía , Estudios Retrospectivos , Células Endoteliales , Agudeza Visual , Queratoplastia Endotelial de la Lámina Limitante Posterior/métodos , Endotelio Corneal/trasplante , Recuento de Células
20.
Ophthalmic Genet ; 45(1): 16-22, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37755702

RESUMEN

BACKGROUND: To report ocular manifestations, clinical course, and therapeutic management of patients with molecular genetically confirmed keratitis-ichthyosis-deafness syndrome. METHODS: Four patients, aged 19 to 46, with keratitis-ichthyosis-deafness syndrome from across the UK were recruited for a general and ocular examination and GJB2 (Cx26) mutational analysis. The ocular examination included best-corrected visual acuity, slit-lamp bio-microscopy, and ocular surface assessment. Mutational analysis of the coding region of GJB2 (Cx26) was performed by bidirectional Sanger sequencing. RESULTS: All four individuals had the characteristic systemic features of keratitis-ichthyosis-deafness syndrome. Each patient was found to have a missense mutation, resulting in the substitution of aspartic acid with asparagine at codon 50 (p.D50N). Main ophthalmic features were vascularizing keratopathy, ocular surface disease, hyperkeratotic lid lesions, recurrent epithelial defects, and corneal stromal scarring. One patient had multiple surgical procedures, including superficial keratectomies and lamellar keratoplasty, which failed to prevent severe visual loss. In contrast, oral therapy with ketoconazole stabilized the corneal and skin disease in two other patients with keratitis-ichthyosis-deafness syndrome. The patient who underwent intracorneal bevacizumab injection showed a marked reduction in corneal vascularization following a single application. CONCLUSIONS: Keratitis-ichthyosis-deafness syndrome is a rare ectodermal dysplasia caused by heterozygous mutations in GJB2 (Cx26) with a severe, progressive vascularizing keratopathy. Oral ketoconazole therapy may offer benefit in stabilizing the corneal and skin disease.


Asunto(s)
Enfermedades de la Córnea , Sordera , Ictiosis , Queratitis , Humanos , Conexinas/genética , Cetoconazol/uso terapéutico , Sordera/genética , Ictiosis/diagnóstico , Ictiosis/genética , Ictiosis/patología , Síndrome , Queratitis/diagnóstico , Queratitis/tratamiento farmacológico , Queratitis/genética , Fenotipo
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