RESUMEN
Cone-rod dystrophies (CORDs) represent a heterogeneous group of monogenic diseases leading to early impairment of vision. The majority of CORD entities show autosomal modes of inheritance and X-linked traits are comparably rare. So far, three X-chromosomal entities were reported (CORDX1, -X2 and -X3). In this study, we analysed a large family of German origin with solely affected males over three generations showing a CORDX-like phenotype. Due to the heterogeneity of cone-rod dystrophies, we performed a combined linkage and X-exome sequencing approach and identified a novel large intragenic in-frame deletion encompassing exons 18 to 26 within the CACNA1F gene. CACNA1F is described causative for CORDX3 in a single family originating from Finland and alterations in this gene have not yet been reported in other CORDX pedigrees. Our data independently confirm CACNA1F as the causative gene for CORDX3-like phenotypes and detailed clinical characterization of the family expands the knowledge about the phenotypic spectrum of deleterious CACNA1F alterations.
Asunto(s)
Canales de Calcio Tipo L/genética , Estudios de Asociación Genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Mutación , Fenotipo , Retinitis Pigmentosa/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Análisis Mutacional de ADN , Exoma , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Ligamiento Genético , Humanos , Masculino , Persona de Mediana Edad , Oftalmoscopios , Linaje , Retinitis Pigmentosa/diagnóstico , Tomografía de Coherencia Óptica , Adulto JovenRESUMEN
PURPOSE: To specify thickness values of various retinal layers on macular spectral domain Optical Coherence Tomography (SDOCT) scans in patients with autosomal dominant optic atrophy (ADOA) compared to healthy controls. METHODS: SDOCT volume scans of 7 patients with ADOA (OPA-1 mutation) and 14 healthy controls were quantitatively analyzed using manual grading software. Mean thickness values for the ETDRS grid subfields 5-8 were calculated for the spaces neurosensory retina, retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), a combined space of inner plexiform layer/outer plexiform layer/inner nuclear layer (IPL+INL+OPL), and a combined space of outer nuclear layer/photoreceptor layers (ONL+PL). RESULTS: ADOA patients showed statistically significant lower retinal thickness values than controls (P < 0.01). RNFL (P < 0.001) and GCL thicknesses (P < 0.001) were significantly lower in ADOA patients. There was no difference in IPL+INL+OPL and in ONL+PL thickness. CONCLUSION: Manual subanalysis of macular SDOCT volume scans allowed detailed subanalysis of various retinal layers. Not only RNFL but also GCL thicknesses are reduced in the macular area of ADOA patients whereas subjacent layers are not involved. Together with clinical findings, macular SDOCT helps to identify patients with suspicion for hereditary optic neuropathy before genetic analysis confirms the diagnosis.
Asunto(s)
GTP Fosfohidrolasas/genética , Atrofia Óptica Autosómica Dominante/genética , Tomografía de Coherencia Óptica , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Atrofia Óptica Autosómica Dominante/patología , Nervio Óptico/patología , Retina/patología , Células Ganglionares de la Retina/patología , Segmento Interno de las Células Fotorreceptoras Retinianas/patología , Segmento Externo de las Células Fotorreceptoras Retinianas/patologíaRESUMEN
BACKGROUND: Literature has dealt extensively with dose-effect relations for recess-resect procedures for correction of horizontal nystagmus-related head turn. However, muscle tucking procedures have some advantages compared to resection procedures. Aim of this study was to evaluate dose-effect relations of Kestenbaum surgery with symmetrical combined recession and tucking (instead of resection) of the horizontal rectus muscles for the reduction of a nystagmus-related head turn. METHODS: In a retrospective study, clinical findings of 42 patients who consecutively underwent treatment in our institution between 2000 and 2011 were investigated. The patients were aged 4-57 years (median age 6 years). For all patients, surgery aimed to correct a horizontal head turn (to the right: 18 patients) due to infantile nystagmus. The head turn was measured with a goniometer with the patient fixing the smallest age-appropriate target distinguishable for the patient. RESULTS: The median absolute head turn before surgery was 30° (min. 15°, max. 45°). The four horizontal rectus muscles were recessed or tucked between 5.5 and 10 mm, median 9 mm. All four muscles were recessed or tucked for the same amount. At the first postoperative day, the median dose-effect relation was 1.88° reduction of head turn per millimeter surgery on one eye (min. 0.5°/mm, max. 3.2°/mm). The median head turn was 0° (min. -20°, max. 15°). Surgery was considered successful in 88% of the patients with a reduction of the head turn to max. 10°. Data of 36 patients were available for the long-term postoperative period (median 1.5 years; min. 6 weeks, max. 11 years). The median head turn was 10° (min. -16°, max. 30°). The median dose-effect relation was reduced to 1.35°/mm per eye (min. 0°/mm, max. 2.9°/mm). Surgery was considered successful in 72 % of the patients with a reduction of the head turn to max. 10°. Three patients showed an overcorrection with a head turn of 8°, 15° and 16° to the other side. A squint has not been induced. CONCLUSIONS: The dose-effect relation for Kestenbaum surgery with symmetrical combined recession and tucking of the horizontal rectus muscles is comparable to the dose-effect relation reported by other authors for symmetrical combined recession and resection.
Asunto(s)
Cabeza , Nistagmo Patológico/fisiopatología , Nistagmo Patológico/cirugía , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos , Postura , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Visión Binocular/fisiología , Agudeza Visual/fisiología , Adulto JovenRESUMEN
PURPOSE: To compare the practicability of using an Icare rebound tonometer (RT) versus a Goldmann applanation tonometer (GAT) or a Pascal dynamic contour tonometer (DCT) for measuring intraocular pressure (IOP) in patients with corneal abnormalities and, furthermore, to study the influence of central corneal thickness, corneal diameter, corneal radius, and axial length. METHODS: One hundred seventy-one pathologic eyes with corneal abnormalities and 26 nonpathologic control eyes of 99 patients were included. Pathologic corneas were divided into subgroups: previous keratoplasty, keratoconus, corneal scars, corneal dystrophies, and bullous keratopathy. RESULTS: Although IOP was successfully measured using the RT in all pathologic eyes, successful measurement of IOP was only possible in 98.2% when using the GAT and in 73.1% with the DCT. Mean IOP for all enrolled eyes was 12.7 ± 4.1 mm Hg for RT, 15.5 ± 4.4 mm Hg for GAT, and 16.3 ± 4.1 mm Hg for DCT. The mean difference between RT and GAT was ≤ 1 mm Hg (≤ 2 mm Hg) [≤ 3 mm Hg] in 23.4% (41.8%) [62.0%] of cases. Correlation analysis showed a moderate correlation between RT and GAT (r = 0.566; P < 0.001) and between RT and DCT (r = 0.364; P < 0.001). Bland-Altman analysis revealed a bias between RT and GAT and between RT and DCT of -2.8 and -3.8 mm Hg, with limits of agreement of -10.5 to 4.9 mm Hg and -12.2 to 4.6 mm Hg, respectively. CONCLUSION: In pathologic corneas, IOP was difficult to obtain with GAT and DCT, whereas RT was able to determine IOP in all pathologic corneas. RT significantly underestimated IOP in all groups in relation to GAT and DCT. The agreement between the methods was clinically acceptable in corneal dystrophy and keratoconus but poor in eyes after keratoplasty.
Asunto(s)
Córnea/patología , Enfermedades de la Córnea/fisiopatología , Presión Intraocular/fisiología , Tonometría Ocular/instrumentación , Longitud Axial del Ojo/patología , Paquimetría Corneal , Femenino , Humanos , Masculino , Tamaño de los Órganos , Reproducibilidad de los ResultadosRESUMEN
AIM/BACKGROUND: To report a novel technique using biodegradable material to cover exposed glaucoma tube shunts. METHODS: A case report of a single patient who underwent drainage tube shunt surgery with the Baerveldt drainage device for intractable glaucoma. Four months post operation the tube became exposed through necrosis of the overlying scleral flap and conjunctiva. The defect was repaired by fixation of the tube to the sclera, with a slice of an ologen implant as a patch, covered by the adjacent conjunctiva. The patient was followed over a period of 1 year after the surgery. RESULTS: Successful, lasting closure of the conjunctival defect was achieved without any side effects or complications. CONCLUSIONS: Erosion of the drainage tube after shunt surgery is a potentially serious problem. It can be successfully managed using a biodegradable implant as a patch before closing the conjunctiva.
Asunto(s)
Implantes Absorbibles , Colágeno , Enfermedades de la Conjuntiva/cirugía , Implantes de Drenaje de Glaucoma , Glaucoma de Ángulo Abierto/cirugía , Glicosaminoglicanos , Adulto , Enfermedades de la Conjuntiva/etiología , Humanos , Presión Intraocular , Masculino , Microscopía Acústica , Necrosis , Polímeros , Esclerótica/patología , Esclerótica/cirugía , Colgajos Quirúrgicos/patologíaRESUMEN
PURPOSE: To evaluate the effect of capsular tension ring (CTR) implantation on refractive outcomes in patients with high myopia. SETTING: University of Cologne, Department of Ophthalmology, Cologne, Germany. DESIGN: Comparative case series. METHODS: The refractive outcomes in myopic eyes were compared between phacoemulsification and IOL implantation with a CTR (CTR group) and without a CTR (control group). Optical biometry (IOLMaster) was obtained. The power of the IOL was used to calculate the predicted postoperative spherical equivalent using the Haigis and SRK/T formulas. The main outcome measures were the mean error and mean absolute error of the refractive prediction error. RESULTS: The mean axial length was 29.1 mm (range 26.5 to 34.1 mm) in the CTR group and 28.2 mm (range 25.6 to 31.1 mm) in the control group. There was no statistically significant difference in the mean absolute refractive prediction error between the CTR group and the control group with the Haigis formula (P = .921) or SRK/T formula (P = .693). However, there was lower variance in the absolute refractive prediction error in the CTR group with both formulas (P = .014 and P = .027, respectively). Intragroup differences between formulas were not statistically significant (CTR, P = .069; control P = .551). CONCLUSIONS: Implantation of a CTR had no consistent effect on refractive outcomes compared with routine phacoemulsification in highly myopic eyes. There was a tendency toward higher precision in outcomes with a CTR. Results indicate IOL power calculation does not have to be changed when a CTR is used.
Asunto(s)
Cápsula del Cristalino/cirugía , Miopía Degenerativa/fisiopatología , Miopía Degenerativa/cirugía , Facoemulsificación , Implantación de Prótesis , Seudofaquia/fisiopatología , Refracción Ocular/fisiología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Implantación de Lentes Intraoculares , Masculino , Persona de Mediana EdadRESUMEN
PURPOSE: To test whether patients aged >or=80 years can safely and successfully apply eyedrops from a single-use eyedrop container without support, and to compare the results with those of younger patients using single-use containers and older patients using standard eyedrop bottles. METHODS: Patients aged >or=80 years who had no physical or mental conditions hindering self-application of eyedrops and actually did so because of glaucoma or dry eyes were included consecutively in the study group (n = 44) in order to perform self-application of eyedrops from single-use eyedrop containers. Patients were observed meticulously by two investigators, who documented practical problems during the procedure in a checklist. In control group A (n = 22), glaucoma or sicca patients aged between 50 and 65 years applied drops from single-use eyedrop containers; in control group B (n = 28), glaucoma or sicca patients aged >or=80 years used a traditional eyedrop bottle. RESULTS: Successful application of the drops into the conjunctival sac was achieved by 57% in the study group (95% and 89% in control groups A and B, respectively). Scratching of the eyedrop container along the conjunctiva or cornea was observed in 68% of the study group (41% and 61% in control groups A and B, respectively). Frequency of problems during opening and self-application of single-use eyedrop containers in the study group showed an inverse correlation to visual acuity in the better eye and previous experience with this kind of eyedrop container. CONCLUSION: Older patients have massive problems in self-administering eyedrops from single-use containers. Factors influencing the success of self-application may include the patient's previous experience with this kind of eyedrop container and the patient's visual acuity.
Asunto(s)
Sistemas de Liberación de Medicamentos/efectos adversos , Soluciones Oftálmicas/administración & dosificación , Autocuidado/efectos adversos , Anciano , Anciano de 80 o más Años , Conjuntiva/lesiones , Lesiones de la Cornea , Lesiones Oculares/etiología , Femenino , Glaucoma/tratamiento farmacológico , Glaucoma/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Síndrome de Sjögren/tratamiento farmacológico , Síndrome de Sjögren/fisiopatología , Agudeza VisualRESUMEN
PURPOSE: To study prospectively the safety and pressure-reducing efficacy of the Y-shaped Eyepass glaucoma implant (GMP Vision Solutions, Inc.). SETTING: Departments of Ophthalmology, University of Cologne, Cologne, and University of Erlangen, Erlangen, Germany. METHODS: This study comprised 12 patients with primary open-angle or exfoliative glaucoma and cataract who had phacoemulsification with endocapsular implantation of a foldable intraocular lens and intracanalicular implantation of an Eyepass glaucoma implant. The implant is a silicone microtube shunt that bypasses the trabecular meshwork and connects the lumina of Schlemm canal with the anterior chamber in combined cataract-glaucoma surgery. Perioperative complications, intraocular pressure (IOP), and pressure-reducing topical medications were monitored over a preliminary follow-up. RESULTS: Perforation of the trabecular meshwork during Eyepass implantation occurred in 2 eyes; the antiglaucoma procedure was converted to trabeculotomy after the shunt was explanted, and both eyes were excluded from further follow-up. In the remaining 10 eyes, the mean maximum IOP was 30.4 mm Hg +/- 7.5 (SD) (range 21 to 46 mm Hg) preoperatively, 12.0 +/- 6.1 mm Hg (range 2 to 20 mm Hg) 1 day postoperatively, 17.2 +/- 4.1 mm Hg (range 12 to 27 mm Hg) at 4 weeks, and 18.3 +/- 4.5 mm Hg (range 12 to 25 mm Hg) at the end of the preliminary follow-up. The mean number of topical medications was 3.2 +/- 0.8 preoperatively and 0.9 +/- 0.7 at the end of follow-up (mean 7.1 months). Although there were no major complications requiring surgical revision, 4 eyes had an IOP of 18 or higher at the end of follow-up. CONCLUSION: Combined cataract surgery with Eyepass shunt implantation was safe and appeared to be beneficial in glaucomatous eyes with cataract not requiring a low target IOP.