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1.
Eur J Ophthalmol ; 33(5): 1946-1951, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36788137

RESUMEN

PURPOSE: To test the hypothesis that severely damaged eyes are more likely to experience postoperative complications after an ArtificialIris® (AI) implantation than other iris defects. METHODS: Patients after iris reconstruction with an AI were included in this consecutive case series of the Department of Ophthalmology, University of Mainz, Germany. Best-corrected visual acuity (BCVA), objective refraction (KR 8900 Topcon, Tokyo, Japan) and Scheimpflug imaging of the anterior segment with Pentacam® (Oculus, Wetzlar, Germany)and postoperative complications were evaluated. RESULTS: Thirty-two eyes of 32 patients after AI implantation were included, separated in partial or total aniridia in a closed globe (group 1, n = 16) and after perforating globe injury (group 2, n = 16). Two or more previous surgeries in the corresponding eye were found in two patients (12.5%) in group 1 and eleven patients (69%) in group 2 (p = 0.001). The time span between initial trauma or iris defect and AI implantation was not significantly related to the occurrence and severity of postoperative complications (p = 0.89). Postoperative complications were classified into mild and severe and showed no differences between group 1 and group 2 (mild: 1 vs. 0; p = 0.52; severe: 5 vs. 6 p = 0.8). CONCLUSION: AI implantation is a treatment option for various iris defects. An individual, case-based decision should be made with strict indication also considering other possible methods for pupil reconstruction. The postoperative outcome is not affected by the time point of AI implantation. So, an implantation is already possible as early as six weeks after the previous trauma.


Asunto(s)
Implantación de Lentes Intraoculares , Lentes Intraoculares , Humanos , Implantación de Lentes Intraoculares/métodos , Agudeza Visual , Iris/cirugía , Iris/lesiones , Prótesis e Implantes , Complicaciones Posoperatorias/cirugía , Estudios Retrospectivos
2.
Int Ophthalmol ; 43(4): 1317-1324, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36149618

RESUMEN

PURPOSE: The aim of this study was to evaluate ocular and systemic risk factors for posterior chamber intraocular lens dislocation, as well as forms of manifestation. METHODS: A retrospective case-control study were all patients presented in the period 2012-2016 having intraocular lens dislocation and being treated with implantation of an iris-fixated intraocular lens was conducted at the University Hospital Mainz. As controls, pseudophakic patients presenting for other reasons were included. RESULTS: 150 eyes of 150 patients (mean age 72.7 ± 12.4 years, range 24-93 years) with IOL dislocation and 150 eyes of 103 controls were included in this study. The average time between primary implantation and IOL luxation was 86 months (iQR: 39.25-127 months) for all dislocations. Previous pars plana vitrectomy (PPV) (crudeOR = 2.14 (95% CI 1.23, 3.72), p = 0.011) and PEX (crudeOR = 11.6 (4.79, 28.12), p < 0.001) was linked with a higher risk of IOL luxation. Luxation occurs also earlier in patients with previous PPV and PEX than in eyes with neither PEX nor previous PPV (82.2 vs. 127 months). Rhegmatogenous retinal detachment was the major pathology that required a previous PPV for eyes with an IOL dislocation (57%). The average time between PPV and IOL dislocation was 74.67 months (range 0-186 months). CONCLUSION: Patients with a coexistence of both: PEX and a previous PPV had an elevated risk of IOL dislocation, and also had a shorter time interval between primary IOL implantation and IOL dislocation followed by eyes with PEX only and eyes with only a previous PPV.


Asunto(s)
Subluxación del Cristalino , Lentes Intraoculares , Humanos , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Implantación de Lentes Intraoculares/efectos adversos , Estudios Retrospectivos , Estudios de Casos y Controles , Agudeza Visual , Lentes Intraoculares/efectos adversos , Vitrectomía/efectos adversos , Subluxación del Cristalino/diagnóstico , Subluxación del Cristalino/etiología , Subluxación del Cristalino/cirugía , Factores de Riesgo , Complicaciones Posoperatorias/etiología
3.
J Ophthalmol ; 2022: 5948208, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35982770

RESUMEN

Purpose: The aim of this study was to evaluate a micrometer-accurate analysis of the retropupillary Verisyse® intraocular lens (IOL) (Ophtec, Groningen NL; Santa Ana, USA) enclavation in the iris tissue. Methods: A retrospective consecutive case series was conducted at the Department of Ophthalmology, University Hospital Mainz. Patients with an optical coherence tomography (Spectralis®, Heidelberg Engineering®; Heidelberg, Germany) examination after retropupillary Verisyse® IOL implantation were included retrospectively. The enclavation geometry was measured using the Eye-Explorer® from Heidelberg Engineering® (Heidelberg, Germany). Seventeen measuring positions were determined nasally and temporally at the corresponding enclavation points. Results: 72 eyes of 67 patients after implantation of a retropupillary Verisyse® IOL were analyzed. The average age was 68 ± 17.2 years (63% female; 38% male). The analysis of the position of the Verisyse® IOL showed highly homogeneous data in all measured points. The depth of the anterior chamber showed a positive correlation with width of the posterior deflection of the iris tissue behind the enclavation (Pearson r: 0.321, p=0.041). The offset of the haptics showed greater deviations, and the lens diopter implanted was higher (r = 0.337, p=0.007). Conclusion: This is the first study that analysis the exact enclavation of retropupillary implanted Verisyse® IOL. It provides new information about the intrastromal course of the haptics in the iris tissue. It could be shown that the haptics do not run parallel in the iris tissue, but are anchored in the iris tissue with an average offset of 95 µm. This rebuts previous assumptions about the intrastromal course and provides new information.

4.
J Ophthalmol ; 2022: 5362020, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35378887

RESUMEN

Purpose: The Acrysof Cachet® angle-supported phakic intraocular lens (pIOL) (Alcon Laboratories, Inc., Fort Worth, TX) is designed to correct high refractive errors in human eyes. The aim of this study was to evaluate the outcome of AcrySof Cachet® angle-supported pIOL implantation with particular regard to efficacy and safety of the implant over a 60-month follow-up period. Design: Retrospective consecutive clinical case study. Methods: Prior to pIOL implantation, patients had a complete ophthalmologic examination including objective and subjective refraction, uncorrected visual acuity (UCVA) and corrected distance visual acuity (CDVA), endothelial cells density (ECD), slit lamp photography, optical coherence tomography (OCT), Scheimpflug digital videokeratoscopy, optical biometry, slit lamp examination, intraocular pressure (IOP) measurement, and pupillometry. Postoperatively, patients received yearly a complete eye examination. Results: Thirty-one eyes of 16 patients were included in this study. The mean age was 36.2 ± 8.1 years. UCVA (logMAR) improved from 1.33 ± 0.20 before surgery to 0.08 ± 0.14 one year after surgery and was 0.20 ± 0.20 five years after surgery. CDVA (logMAR) improved from 0.10 ± 0.10 before surgery to 0.05 ± 0.13 one year after surgery and was 0.04 ± 0.14 five years postoperatively. The mean percentage of endothelial cells loss (ECL) was 11.51% over the first year and 15.95% five years after surgery. There were no intraoperative complications in any of the eyes. Conclusions: Our results up to five years after implantation of the AcrySof Cachet® angle-supported pIOL demonstrated very good outcomes in all above shown measurements, including CDVA, UCVA, and ECD. However, since major endothelial cell loss may occur in some patients with this type of pIOL, regular follow-up visits are required.

5.
Cornea ; 40(9): 1218-1224, 2021 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-34116539

RESUMEN

PURPOSE: Posterior lamellar keratoplasty is increasingly applied in patients with endothelial decompensation after penetrating keratoplasty (PK). The aim of this study was to compare the results of Descemet membrane endothelial keratoplasty (DMEK) and Descemet stripping automated endothelial keratoplasty (DSAEK) after PK. METHODS: In this retrospective study, clinical data of 30 patients who received DMEK (n = 19) or DSAEK (n = 11) for endothelial decompensation after PK were evaluated. All lamellar keratoplasties were performed at the Department of Ophthalmology at University Hospital Mainz, Germany. Primary end point included best-corrected visual acuity, and secondary end points included endothelial cell density, rebubbling, and rejection rates, all at 6 and 12 months. RESULTS: After 6 months and 12 months, 89% of DMEK and 73% of DSAEK grafts and 63% of DMEK and 64% of DSAEK grafts provided sufficient corneal deturgescence, respectively, represented by improvement in best-corrected visual acuity. DMEK group median preoperative Logarithm of the Minimum Angle of Resolution visual acuity of 1 increased to 0.5 after 6 and 12 months. DSAEK group median Logarithm of the Minimum Angle of Resolution visual acuity increased from 3 to 2 and 1.3 after 6 and 12 months. After 12 months, graft endothelial cell density had decreased by 58% in the DMEK group and by 59% in the DSAEK group. The proportion of patients requiring a rebubbling were 63% in the DMEK and 64% in the DSAEK group. No lamellar graft rejection occurred in either trial arm. CONCLUSIONS: Both DMEK and DSAEK significantly improved visual acuity in patients after PK. Lamellar graft survival, loss of endothelial cells, and mean rebubbling rates were similar in both groups.


Asunto(s)
Enfermedades de la Córnea/cirugía , Queratoplastia Endotelial de la Lámina Limitante Posterior/métodos , Queratoplastia Penetrante , Adulto , Anciano , Anciano de 80 o más Años , Recuento de Células , Enfermedades de la Córnea/fisiopatología , Pérdida de Celulas Endoteliales de la Córnea/fisiopatología , Células Endoteliales/patología , Femenino , Supervivencia de Injerto/fisiología , Humanos , Masculino , Persona de Mediana Edad , Periodo Posoperatorio , Estudios Retrospectivos , Agudeza Visual/fisiología , Adulto Joven
6.
Am J Ophthalmol Case Rep ; 20: 100926, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33015407

RESUMEN

PURPOSE: To report a female patient of biclonal Lewis syndrome which consists of a trias: biclonal gammopathy of undetermined significance, paraproteinemic keratopathy in form of a brownish discoid opacification at the level of Descemet's membrane and hypercupremia. After several years there was a conversion to multiple myeloma. Systemic chemotherapy led to a complete remission of multiple myeloma and to a normalization of the copper level in the blood that lasted five years. The corneal opacification remained unchanged. OBSERVATIONS: A currently 66-year-old woman suffered from biclonal Lewis syndrome. On both eyes there is a central discoid yellow-brownish discoloration in the Pre-Descemet's layer. The corneal findings were unchanged after a follow up of eight years. However, there was a conversion to multiple myeloma (MM) type IgG with progressive anemia and suspicious bone lesions. A multiple systemic myeloma-therapy was indicated. Chemotherapy with subsequent tandem autologous-stem cell therapy (auto-SCT) was performed. The blood examination after this therapy showed a complete remission of multiple myeloma, and it was also very surprising that the serum copper level was within normal range. This finding remained unchanged over a period of five years. The bilateral corneal opacification was identical to that before chemotherapy. To the best of our knowledge, this represents the first observation of a normalization of copper levels in Lewis syndrome after chemotherapy. CONCLUSIONS AND IMPORTANCE: The Lewis syndrome represents a very rare disorder. The first case reported in Europe (Lisch et al., 2016)1 showed a conversion from biclonal gammopathy of undetermined significance to MM after a follow-up of 17 years. Subjectively, the patient was in excellent health. The typical corneal, discoid brownish opacification at the level of Descemet's membrane is a suspicious hint of a copper disturbance for the ophthalmologist. The copper level of our patient was extremely elevated. The corneal opacification however, remained unchanged throughout the repeated ophthalmological examinations. In 2015, the conversion of our case with Lewis syndrome to MM performing chemotherapy in different steps and a twice auto-SCT resulted in a complete remission of MM and a normal range of the serum copper. The bilateral corneal opacification remained unchanged during an observation period of five years after chemotherapy.

7.
Ophthalmologe ; 117(8): 786-790, 2020 Aug.
Artículo en Alemán | MEDLINE | ID: mdl-32060610

RESUMEN

BACKGROUND: The implantation of the Artificial Iris® (Human Optics AG, Erlangen, Germany) is used for pupil and iris reconstruction in patients with partial or complete aniridia. So far, only a few case reports and short-term results are available in the literature. OBJECTIVE: The aim of this analysis is to present the various indications as well as the functional result. MATERIAL AND METHOD: This retrospective consecutive case study included 51 eyes of 50 patients with implantation of an Artificial Iris® for pupillary reconstruction. All operations were performed by the same ophthalmic surgeon (UV) at the University Eye Clinic Mainz. The initial findings were placed in relation to the indications and the functional results were investigated. RESULTS: In this study 51 eyes of 50 patients with a mean age of 57 ± 16.5 years (16 women and 34 men) were analyzed. While the majority of the patients suffered from a traumatic partial or complete aniridia, the minority showed congenital defects. The visual acuity could be improved in 53% of the patients (p = 0.0001) postoperatively. CONCLUSION: This analysis highlights the various and diverse indications for implanting the Artificial Iris®. Hereby, a gain in visual acuity is not invariably the primary objective but more often reduction of glare as well as cosmetic rehabilitation, as the eyes are severely damaged in many cases. The long-term results are currently being analyzed in a study and will soon be published.


Asunto(s)
Iris/cirugía , Adulto , Anciano , Aniridia , Femenino , Alemania , Humanos , Masculino , Persona de Mediana Edad , Implantación de Prótesis , Estudios Retrospectivos
8.
J Radiol Prot ; 39(4): 1041-1059, 2019 Oct 18.
Artículo en Inglés | MEDLINE | ID: mdl-31626593

RESUMEN

We assessed the feasibility of an epidemiological study on the risk of radiation-related lens opacities among interventional physicians in Germany. In a regional multi-centre pilot study associated with a European project, we tested the recruitment strategy, a European questionnaire on work history for the latter dosimetry calculation and the endpoint assessment. 263 interventional physicians and 129 non-exposed colleagues were invited. Questionnaires assessed eligibility criteria, risk factors for cataract, and work history relating to occupational exposure to ionising radiation, including details on type and amount of procedures performed, radiation sources, and use of protective equipment. Eye examinations included regular inspection by an ophthalmologist, digital slit lamp images graded according to the lens opacities classification system, and Scheimpflug camera measurements. 46 interventional (17.5%) and 30 non-exposed physicians (23.3%) agreed to participate, of which 42 and 19, respectively, met the inclusion criteria. Table shields and ceiling suspended shields were used as protective equipment by 85% and 78% of the interventional cardiologists, respectively. However, 68% of them never used lead glasses. More, although minor, opacifications were diagnosed among the 17 interventional cardiologists participating in the eye examinations than among the 18 non-exposed (59% versus 28%), mainly nuclear cataracts in interventional cardiologists and cortical cataracts in the non-exposed. Opacification scores calculated from Scheimpflug measurements were higher among the interventional cardiologists, especially in the left eye (56% versus 28%). Challenges of the approach studied include the dissuading time investment related to pupil dilatation for the eye examinations, the reliance on a retrospective work history questionnaire to gather exposure-relevant information for dose reconstructions and its length, resulting in a low participation rate. Dosimetry data are bound to get better when the prospective lens dose monitoring as foreseen by 2013 European Directives is implemented and doses are recorded.

9.
Acta Ophthalmol ; 96(8): e974-e978, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29671946

RESUMEN

PURPOSE: The major goal of this study was to test the hypothesis that in patients with peripheral hypertrophic subepithelial corneal opacification (PHSCO), visualization of corneal vessels is better with optical coherence tomography angiography (OCTA) than with conventional slit lamp microphotography. METHODS: Patients with PHSCO were included in this prospective study. The corneal findings were photographed using a slit lamp camera (Haag Streit BM 900® ) and visualized with anterior-segment OCT (Optovue XR Avanti, Fremont, California, USA). Additionally, OCTA with the Angiovue Imaging™ System was performed in the area of PHSCO. RESULTS: Thirty-four eyes of 19 patients (26% male and 74% female) with PHSCO were included in this study. In 21 eyes, vascularization in the area of PHSCO was visualized with the Angiovue-OCT, whereas only 10 eyes presented vessels in slit lamp photographs. CONCLUSION: Optical coherence tomography angiography allows better visualization of corneal neovascularization than slit lamp photography in patients with PHSCO. Corneal opacifications were found predominantly nasally, which was reflected by a local enlargement of corneal thickness.


Asunto(s)
Córnea/irrigación sanguínea , Neovascularización de la Córnea/diagnóstico , Opacidad de la Córnea/diagnóstico , Angiografía con Fluoresceína/métodos , Tomografía de Coherencia Óptica/métodos , Adulto , Anciano , Anciano de 80 o más Años , Neovascularización de la Córnea/complicaciones , Opacidad de la Córnea/etiología , Epitelio Corneal/irrigación sanguínea , Epitelio Corneal/patología , Femenino , Estudios de Seguimiento , Fondo de Ojo , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Reproducibilidad de los Resultados , Microscopía con Lámpara de Hendidura , Factores de Tiempo
10.
J Ophthalmol ; 2017: 2190347, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29085672

RESUMEN

PURPOSE: To report the distribution of iris conicity (steepness of the iris cone), investigate associated factors, and test whether pseudophakia allows the iris to sink back. METHODS: A population-based cross-sectional study was carried out. Ophthalmological examination including objective refraction, biometry, noncontact tonometry, and Scheimpflug imaging (Pentacam®, Oculus) was performed including automated measurement of iris conicity. 3708 phakic subjects, 144 subjects with bilateral and 39 subjects with unilateral pseudophakia were included. Multivariable analyses were carried out to determine independently associated systemic and ocular factors for iris conicity in phakic eyes. RESULTS: Mean iris conicity was 8.28° ± 3.29° (right eyes). Statistical analysis revealed associations between steeper iris conicity and shallower anterior chamber depth, thicker human lens and higher corneal power in multivariable analysis, while older age was related to a flatter iris conicity. Refraction, axial length, central corneal thickness, pupil diameter, and intraocular pressure were not associated with iris conicity. Pseudophakia resulted in a 5.82° flatter iris conicity than in the fellow phakic eyes. CONCLUSIONS: Associations indicate a correlation between iris conicity with risk factors for angle-closure, namely, shallower anterior chamber depth and thicker human lens. In pseudophakic eyes, iris conicity is significantly lower, indicating that cataract surgery flattens the iris.

11.
J Glaucoma ; 26(12): e261-e263, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28984715

RESUMEN

PURPOSE: To report for the first time a clinical case of suprachoroidal bleeding after XEN45 gel implantation. OBSERVATIONS: A 84-year old female patient with pseudoexfoliation glaucoma with intraocular pressure (IOP) (20 mm Hg) above target despite maximal IOP-lowering therapy was scheduled for XEN45 gel implantation. The XEN45 gel implantation went without complications and was properly placed in the anterior chamber and beneath the conjunctiva. On the first postoperative day, the patient presented with an IOP of 4 mm Hg, a functioning bleb and a deep anterior chamber. On the second day she developed suprachoroidal bleeding. A wait and see strategy was followed and the patient monitored steadily. The bleeding resolved spontaneously after 6 weeks. CONCLUSIONS AND IMPORTANCE: Minimally invasive glaucoma surgery is developed to provide a safer and less-invasive option to reduce IOP in glaucoma patients compared with trabeculectomy. Although the concept of the XEN45 gel stent seems to be a favorable to reach IOP-lowering results similar to those of trabeculectomy, complications may be similar, too. We have to keep this in mind when informing patients about surgical options.


Asunto(s)
Hemorragia de la Coroides/etiología , Síndrome de Exfoliación/cirugía , Implantes de Drenaje de Glaucoma/efectos adversos , Presión Intraocular/fisiología , Hemorragia Posoperatoria/etiología , Anciano de 80 o más Años , Cámara Anterior , Hemorragia de la Coroides/diagnóstico , Síndrome de Exfoliación/fisiopatología , Femenino , Humanos , Hemorragia Posoperatoria/diagnóstico , Remisión Espontánea , Ultrasonografía
12.
Aging (Albany NY) ; 9(3): 1030-1040, 2017 03 28.
Artículo en Inglés | MEDLINE | ID: mdl-28358301

RESUMEN

Cataract surgery is the most frequently performed surgical procedure worldwide. We aim to determine the prevalence of having implanted an artificial lens (pseudophakia) and of no lens (aphakia) and to compare visual function.As part of the Gutenberg Health study, a population-based cross-sectional study was conducted in Germany. An ophthalmological examination including slit-lamp examination was conducted. Prevalence including 95% confidential intervals were calculated and analyses were conducted for systemic and ocular associated factors with pseudophakia using multivariable logistic regression models. Vision-related quality of life was assessed using a standardized questionnaire and Rasch transformation.14,696 people were included. Of these, 1.55% [1.36%-1.77%] had unilateral pseudophakia and 3.08% [2.81%-3.37%] had bilateral pseudophakia. Unilateral aphakia was present in 21 people and bilateral aphakia in 2 people. Pseudophakia was independently associated with age, higher body weight and lower body height, diabetes and smoking. Vision-related quality of life values were similar for those with bilateral phakia and pseudophakia but were lower for those with unilateral pseudophakia.The pseudophakia status is related to several cardiovascular risk factors, indicating a relationship to an aging effect that causes premature lens opacification. Bilateral pseudophakia can almost imitate the physiological condition of phakia except for the need to use glasses.


Asunto(s)
Seudofaquia/epidemiología , Calidad de Vida , Adulto , Anciano , Afaquia Poscatarata/epidemiología , Enfermedades Cardiovasculares/epidemiología , Estudios Transversales , Femenino , Alemania/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Factores de Riesgo
13.
Acta Ophthalmol ; 95(2): 175-181, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-27488961

RESUMEN

PURPOSE: Optical coherence tomography (OCT) of the anterior segment allows quantitative analysis of the geometry of the iris. We performed spectral domain OCT examinations in healthy emmetropic, hyperopic and myopic subjects to investigate iris curvature and its associations. METHODS: In a cross-sectional study, out of 4617 eyes (2309 subjects) those with refractive errors of <-4 or >+3 dioptres were identified by objective refraction. The iris was examined using the anterior segment mode of a spectral domain 3D OCT-2000 (Topcon Inc., Japan) in the temporal meridian, and OCT scans were investigated with respect to presence and amount of convex and concave iris configuration. Ninety-three eyes of 50 subjects served as emmetropic group (-0.5 ≤ x ≤+0.5 dioptres). Previous ocular surgery was exclusion criterion. RESULTS: Six hundred and sixty-eight eyes of 398 persons [292 male (76%); age range; 18-66 years] were included in the study. In the myopic group, 105 eyes had a concave iris configuration (26%), while in the hyperopic group, no eye had this configuration (0%) and in the emmetropic group five eyes (5%). Convex iris configuration was found in 96% of hyperopic, in 85% of the emmetropic and in 67% of the myopic eyes. There was an association between concave iris configuration and myopia, younger age and male gender, and with anterior chamber angle width. CONCLUSION: Spectral domain OCT images can be used for analysis of the iris structure and geometry. Our results are limited to the properties of the study population having an age range from 18 to 66 years and consisting mainly of men.


Asunto(s)
Iris/diagnóstico por imagen , Refracción Ocular/fisiología , Errores de Refracción/diagnóstico , Tomografía de Coherencia Óptica/métodos , Adolescente , Adulto , Factores de Edad , Anciano , Segmento Anterior del Ojo , Estudios Transversales , Femenino , Alemania/epidemiología , Gonioscopía , Humanos , Incidencia , Presión Intraocular , Masculino , Persona de Mediana Edad , Pupila , Errores de Refracción/fisiopatología , Adulto Joven
14.
Orphanet J Rare Dis ; 11(1): 108, 2016 08 02.
Artículo en Inglés | MEDLINE | ID: mdl-27484908

RESUMEN

BACKGROUND: Primary congenital glaucoma (PCG) and early onset glaucomas are one of the major causes of children and young adult blindness worldwide. Both autosomal recessive and dominant inheritance have been described with involvement of several genes including CYP1B1, FOXC1, PITX2, MYOC and PAX6. However, mutations in these genes explain only a small fraction of cases suggesting the presence of further candidate genes. METHODS: To elucidate further genetic causes of these conditions whole exome sequencing (WES) was performed in an Italian patient, diagnosed with PCG and retinal detachment, and his unaffected parents. Sanger sequencing of the complete coding region of COL1A1 was performed in a total of 26 further patients diagnosed with PCG or early onset glaucoma. Exclusion of pathogenic variations in known glaucoma genes as CYP1B1, MYOC, FOXC1, PITX2 and PAX6 was additionally done per Sanger sequencing and Multiple Ligation-dependent Probe Amplification (MLPA) analysis. RESULTS: In the patient diagnosed with PCG and retinal detachment, analysis of WES data identified compound heterozygous variants in COL1A1 (p.Met264Leu; p.Ala1083Thr). Targeted COL1A1 screening of 26 additional patients detected three further heterozygous variants (p.Arg253*, p.Gly767Ser and p.Gly154Val) in three distinct subjects: two of them diagnosed with early onset glaucoma and mild form of osteogenesis imperfecta (OI), one patient with a diagnosis of PCG at age 4 years. All five variants affected evolutionary, highly conserved amino acids indicating important functional restrictions. Molecular modeling predicted that the heterozygous variants are dominant in effect and affect protein stability and thus the amount of available protein, while the compound heterozygous variants act as recessive alleles and impair binding affinity to two main COL1A1 binding proteins: Hsp47 and fibronectin. CONCLUSIONS: Dominant inherited mutations in COL1A1 are known causes of connective tissues disorders such as OI. These disorders are also associated with different ocular abnormalities, although recognition of the common pathology for both features is seldom being recognized. Our results expand the role of COL1A1 mutations in different forms of early-onset glaucoma with and without signs of OI. Thus, we suggest including COL1A1 mutation screening in the genetic work-up of glaucoma cases and detailed ophthalmic examinations with fundus analysis in patients with OI.


Asunto(s)
Colágeno Tipo I/genética , Glaucoma/genética , Mutación/genética , Adolescente , Cadena alfa 1 del Colágeno Tipo I , Citocromo P-450 CYP1B1/genética , Proteínas del Citoesqueleto/genética , Exoma/genética , Proteínas del Ojo/genética , Factores de Transcripción Forkhead/genética , Glicoproteínas/genética , Proteínas de Homeodominio/genética , Humanos , Masculino , Osteogénesis Imperfecta/genética , Factor de Transcripción PAX6/genética , Análisis de Secuencia de ADN , Factores de Transcripción/genética , Proteína del Homeodomínio PITX2
15.
Invest Ophthalmol Vis Sci ; 57(8): 3740-6, 2016 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-27415792

RESUMEN

PURPOSE: Scheimpflug imaging allows quantitative analysis of the width of the anterior chamber angle. We report the population-based distribution of the anterior chamber angle width using this noncontact imaging technique and investigate associated factors. METHODS: A population-based cross-sectional study was carried out in Germany. A comprehensive ophthalmologic examination including refraction, biometry, and Scheimpflug imaging was performed. Automated measurement of the anterior chamber angle was performed in each anterior chamber quadrant. Exclusion criteria were previous ocular surgery or inadequate image quality. Association analyses were carried out to determine independently associated systemic and ocular factors for anterior chamber angle width using a generalized estimating equation model. RESULTS: A total of 3014 subjects (48% female) with a mean age of 58.6 ± 10.4 years were included in this study. The mean anterior chamber angle width was 32.6° ± 5.5°. Statistical analysis revealed an independent association between a smaller anterior chamber angle and female sex, higher age, and more hyperopic refraction. When including biometric parameters, shallow anterior chamber depth, shorter axial length, higher central corneal thickness, and lower corneal power were independently associated with a narrower mean anterior chamber angle width. CONCLUSIONS: These parameters are considered risk factors for angle-closure glaucoma.


Asunto(s)
Cámara Anterior/patología , Glaucoma de Ángulo Cerrado/patología , Adulto , Factores de Edad , Anciano , Astigmatismo/patología , Astigmatismo/fisiopatología , Córnea/patología , Córnea/fisiopatología , Estudios Transversales , Técnicas de Diagnóstico Oftalmológico , Femenino , Alemania , Glaucoma de Ángulo Cerrado/fisiopatología , Humanos , Cristalino/patología , Cristalino/fisiopatología , Masculino , Persona de Mediana Edad , Refracción Ocular/fisiología , Factores de Riesgo , Caracteres Sexuales
16.
Graefes Arch Clin Exp Ophthalmol ; 254(10): 2011-2016, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-27468713

RESUMEN

BACKGROUND: Optical coherence tomography (OCT) allows quantitative image analysis of retinal tissue in vivo. Peripapillary retinal nerve fiber layer (pRNFL) thickness is widely used for evaluation of retinal nerve fiber rarefaction in several optic neuropathies. This study evaluates associations of pRNFL thickness in healthy adult subjects in order to evaluate influencing factors. METHODS: A cross-sectional study was performed in a working-age population. Only eyes without detectable ocular pathologies were included in the analysis. Among analyzed systemic cardiovascular parameters were age, gender, body-mass index, mean arterial blood pressure, HbA1c, high- and low-density-lipoproteins, and triglycerides. A comprehensive ophthalmological examination including refraction, tonometry, keratometry, and central corneal thickness measurmentwas performed. In addition, pRNFL thickness was imaged by spectral-domain OCT. Univariable and multivariable associations of pRNFL thickness in all four quadrants and on average with systemic and ocular parameters were calculated using a generalized estimating equation model. RESULTS: Three hundred and six subjects were included. pRNFL thickness measurements showed a significant association with spherical equivalent: pRNFL thickness decreased with increasing myopia in all quadrants (multivariable regression coefficients Beta: superior: 1.16, 95 % CI [0.62;1.71], p < 0.001; temporal: 0.87, [0.33;1.41], p = 0.001; inferior: 1.80, [1.18;2.42], p < 0.001; nasal: 2.60, [2.01;3.20], p < 0.001) and on average (1.51, [1.20;1.82], p < 0.001). A thicker central cornea thickness was related to lower pRNFL in the superior (-0.05, [-0.10; -0.01], p = 0.01), the inferior quadrant (-0.05, [-0.10;0.00], p = 0.03) and on average (-0.04, [-0.07; -0.01], p = 0.02). All other parameters were not  associated. CONCLUSION: Our findings highlight the importance of refraction when evaluating pRNFL thickness and its independence from other systemic parameters.


Asunto(s)
Fibras Nerviosas , Disco Óptico/anatomía & histología , Células Ganglionares de la Retina/citología , Adolescente , Adulto , Presión Sanguínea/fisiología , Constitución Corporal/fisiología , Estudios Transversales , Femenino , Voluntarios Sanos , Humanos , Presión Intraocular , Lípidos/sangre , Masculino , Persona de Mediana Edad , Disco Óptico/diagnóstico por imagen , Refracción Ocular , Tomografía de Coherencia Óptica
17.
J Ophthalmol ; 2016: 2596956, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27340561

RESUMEN

Background. Optical coherence tomography (OCT) allows quantitative analysis of the anterior segment of the eye with a noncontact examination. The aim of this study is to analyze associations of central corneal thickness (CCT) as measured by OCT with ocular and systemic cardiovascular parameters. Methods. A cross-sectional study of 734 persons was performed in a working age population. Only healthy eyes were included. A comprehensive ophthalmological examination including refraction, noncontact tonometry, and imaging of the anterior segment by SD-OCT was performed. In parallel, a broad range of systemic cardiovascular parameters were measured. Associations were analyzed using a generalized estimating equations' model. Results. CCT measurements showed a significant association with corneal curvature and intraocular pressure: a thinner CCT was associated with a flatter cornea and with lower intraocular pressure (p < 0.001). Age was positively associated with CCT (p < 0.001); all other cardiovascular parameters were not associated. Conclusion. A thinner cornea is associated with a flatter surface and with lower intraocular pressure readings, while there are no independent associations with refraction and systemic cardiovascular parameters. Our findings highlight the value of SD-OCT CCT measurements as a standard tool in anterior segment analysis.

18.
J Cataract Refract Surg ; 41(5): 1088-97, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25956711

RESUMEN

This review was conducted to compare the physical effect of aspheric IOL implantation on wavefront properties with that of spherical IOL implantation. The peer-reviewed literature was systematically searched in Medline, Embase, Web of Science, Biosis, and the Cochrane Library according to the Cochrane Collaboration method. Inclusion criteria were randomized controlled trials comparing the use of aspheric versus spherical monofocal IOL implantation that assessed visual acuity, contrast sensitivity, or quality of vision. A secondary outcome was ocular wavefront analysis; spherical aberration, higher-order aberrations (HOAs), coma, and trefoil were evaluated. Effects were calculated as standardized mean differences (Hedges g) and were pooled using random-effect models. Thirty-four of 43 studies provided data for wavefront analysis. Aspheric monofocal IOL implantation resulted in less ocular spherical aberration and fewer ocular HOAs than spherical IOLs. This might explain the better contrast sensitivity in patients with aspheric IOLs.


Asunto(s)
Implantación de Lentes Intraoculares , Lentes Intraoculares , Facoemulsificación , Sensibilidad de Contraste/fisiología , Humanos , Diseño de Prótesis , Seudofaquia/fisiopatología , Agudeza Visual
19.
Graefes Arch Clin Exp Ophthalmol ; 253(1): 121-5, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25252606

RESUMEN

PURPOSE: Beyond in-vivo histological analysis of retinal tissue, optical coherence tomography (OCT) allows quantitative image analysis. This study evaluates associations of macular retinal thickness measured with spectral-domain OCT (SD-OCT) and ocular and systemic cardiovascular parameters in adult subjects. METHODS: An epidemiological cross-sectional study was performed in the staff of a European high-tech company. Examination of known cardiovascular risk factors including biochemical blood analysis was performed, and ocular parameters such as refraction, tonometry, SD-OCT imaging of the macula and cornea, and fundus photography were evaluated. Retinal thickness measurements were evaluated according to the ETDRS grid. Associations of macular retinal thickness and systemic cardiovascular and ocular parameters were calculated by multivariate analysis using SPSS software. RESULTS: Four hundred and twenty-four probands were included. Macular thickness measurement were significantly associated with gender and refraction. Female persons had thinner retinal thickness in all zones. Macular thickness decreased with increasing myopia in all perifoveal measurements. Outer perifoveal measurements were associated with keratometry; a flatter corneal radius was linked to a thinner retina. Tonometry and systemic cardiovascular risk factors were not associated with macular retinal thickness in multivariate analysis (p > 0.05). CONCLUSIONS: Macular retinal thickness is associated with refraction and gender; cardiovascular risk factors or tonometry do not influence macular retinal thickness measurements. Keratometry might influence outer zone measurements. Our findings provide a dataset for quantitative evaluation of SD-OCT, and evaluate influencing factors.


Asunto(s)
Fenómenos Fisiológicos Cardiovasculares , Córnea/anatomía & histología , Presión Intraocular/fisiología , Mácula Lútea/anatomía & histología , Refracción Ocular/fisiología , Tomografía de Coherencia Óptica , Adolescente , Adulto , Anciano , Presión Sanguínea/fisiología , Estudios Transversales , Estudios Epidemiológicos , Femenino , Humanos , Lípidos/sangre , Masculino , Persona de Mediana Edad , Tamaño de los Órganos , Factores de Riesgo , Factores Sexuales , Encuestas y Cuestionarios , Tonometría Ocular
20.
Int J Cardiol ; 180: 30-3, 2015 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-25438202

RESUMEN

BACKGROUND: Examination of retinal vasculature can be used to non-invasively quantify changes within the microvasculature of the human body and might be a predictor of cardiovascular disease. This study evaluates associations of the structure of the retinal vasculature with established risk factors for cardiovascular disease. METHODS: A cross-sectional study was performed in a working age population. Several systemic cardiovascular parameters were analyzed and PROCAM- and SCORE-risk estimates were calculated. A quantitative ophthalmological examination including digital fundus imaging has taken place. Central retinal arterial/venous equivalents (CRAE/CRVE) and arterio-venous ratio (AVR) were analyzed using validated software. Associations of retinal vessel parameters and systemic cardiovascular and ocular parameters were calculated by multivariate analysis using SPSS software. A p-value of <0.05 with Bonferroni correction was accepted as significant. RESULTS: 338 probands were included. A smaller CRAE was independently associated with increased mean arterial blood pressure, higher age and higher body-mass index. Regarding CRVE age was inversely associated. Other cardiovascular risk parameters were not associated to the examined retinal vessel equivalents. AVR showed a significant association to mean arterial blood pressure and body-mass-index. PROCAM- and SCORE-risk estimates were negatively associated with CRAE and AVR, but not associated to CRVE. CONCLUSIONS: Arterial retinal vessel analysis and AV-ratio showed associations to established cardiovascular parameters in the study population. PROCAM- and SCORE-risk estimates as indicators of cardiovascular risk were associated with the CRAE and the AV-ratio. This suggests that a single snap shot of the retinal vessels may indicate the individual relative risk for cardiovascular events.


Asunto(s)
Enfermedades Cardiovasculares/epidemiología , Microcirculación/fisiología , Vasos Retinianos/patología , Medición de Riesgo/métodos , Adulto , Enfermedades Cardiovasculares/diagnóstico , Estudios Transversales , Femenino , Alemania/epidemiología , Humanos , Incidencia , Masculino , Vasos Retinianos/fisiopatología , Factores de Riesgo
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