RESUMEN
PURPOSE: To describe a case of severe corneal granular dystrophy with clinicopathologic and molecular genetic findings. METHODS: The DNAs of a 53-year-old male patient suffering from corneal granular dystrophy and nonaffected family members were analyzed by molecular genetic methods. Clinical features, and histopathologic and immunohistochemical findings from the penetrating keratoplasty specimen, are described. RESULTS: Histopathologic and molecular genetic findings confirmed the diagnosis. A new genetic polymorphism is described. Histopathologic evidence supports the assumption of the epithelial origin of the described dystrophy. CONCLUSIONS: A severe course of corneal granular dystrophy can be present in the absence of evidence of a homozygous mutational status, or a novel mutation. Molecular genetic analysis revealed a new polymorphism in this patient. The histopathologic findings support the assumption of an epithelial origin of the granular corneal deposits. Phototherapeutic keratectomy and penetrating keratoplasty may improve vision, but cannot prevent recurrence of the disease.
Asunto(s)
Distrofias Hereditarias de la Córnea/genética , Proteínas de la Matriz Extracelular/genética , Mutación , Polimorfismo Genético , Factor de Crecimiento Transformador beta/genética , Distrofias Hereditarias de la Córnea/patología , Distrofias Hereditarias de la Córnea/cirugía , Análisis Mutacional de ADN , Exones/genética , Humanos , Queratoplastia Penetrante , Masculino , Persona de Mediana Edad , Biología Molecular , Reacción en Cadena de la Polimerasa , RecurrenciaRESUMEN
PURPOSE: To analyze the long-term effect of epikeratophakia (EKP) on corneal topography and visual acuity of eyes with keratoconus. METHODS: Retrospective study of 36 eyes 7.2 years after EKP. Four eyes underwent penetrating keratoplasty (PKP) and were excluded from further evaluation. Best-corrected visual acuity (BCVA) values were obtained from 32 eyes, corneal refraction and astigmatism from 23 eyes, surface asymmetry index (SAI) and surface regularity index (SRI) from 17 consecutive eyes that were operated upon after 1991, when the Tomey Topographic Modeling System became available. RESULTS: Only four eyes needed PKP. In addition to EKP six eyes had compression sutures and/or relaxing incisions, and one eye underwent photorefractive keratectomy. Mean refractive power of the cornea decreased from 51.8 to 45.8 and astigmatism from 7.2 to 3.8. SAI improved from 3.2 to 0.9 and SRI from 3.7 to 0.9. Mean BCVA was 0.3 preoperatively and 0.6 upon last follow-up. CONCLUSIONS: EKP was able to render PKP unnecessary in 32 of 36 eyes during the entire observation period. It was successful in permanently flattening the ectatic cornea and reducing astigmatism while restoring a symmetrical and smooth corneal surface. As a result, visual acuity improved considerably. In view of the young age of keratoconus patients needing surgery, and the fact that the lifetime of full-thickness corneal grafts is limited, EKP should be considered a valuable alternative to PKP in contact-lens-intolerant cases of keratoconus without central scarring.
Asunto(s)
Córnea/fisiología , Topografía de la Córnea , Epiqueratofaquia/fisiología , Queratocono/fisiopatología , Queratocono/cirugía , Adulto , Astigmatismo/prevención & control , Córnea/cirugía , Estudios de Seguimiento , Humanos , Queratoplastia Penetrante , Refracción Ocular/fisiología , Estudios Retrospectivos , Técnicas de Sutura , Agudeza Visual/fisiologíaRESUMEN
BACKGROUND: To evaluate the effectiveness of transpupillary thermotherapy (TTT) as an adjunct to ruthenium brachytherapy for treatment of choroidal melanoma with reduced radioactive dose. PATIENTS AND METHODS: In a prospective nonrandomised analysis 15 eyes with primary malignant melanoma of the choroid (posterior to the equator, thickness = 4.5 and base = 12 mm) were treated with TTT (diode laser at 810 nm, spot size 2 - 3 mm, energy 0.3 - 0.9 watt, exposure time 21 - 45 minutes) in conjunction with an attenuated ruthenium plaque (radioactive dose to the tumour apex 100 Gy). Follow-up was at least 12 months. RESULTS: The mean tumour thickness before therapy was 3.2 mm (1.2 - 4.5 mm), the mean tumour regression 3 months postoperatively 2.1 mm (0.5 - 4.5 mm). 12 months postoperatively all tumours were regressed through a completely flattened chorioretinal scar. In 5 eyes visual acuity improved. The main reason for visual decrease in 7 eyes was subfoveal tumour location in 4 eyes, development of macular oedema in 2 eyes and epiretinal gliosis in one eye. Neither occlusion of retinal vessels nor radiation retinopathy/optic neuropathy were observed. Despite complete tumour regression clinically and fluoresceinangiographically, ICG-angiography revealed persistence of choriocapillary vessels especially at the posterior margin of the treatment zone in all eyes. No tumour regrowth or metastatic disease were recorded. CONCLUSIONS: Our 12-month results of TTT complementary to ruthenium brachytherapy with an attenuated tumour apex dose of 100 Gy for posterior choroidal melanoma with thickness = 4.5 mm are comparable to findings after TTT alone, especially in regard to regression course, low rate of sideeffects and visual results. ICG angiography might be a useful tool to monitor an eventual tumour regrowth in the choriocapillary layer. For evaluation of sideeffects of brachytherapy a postradiation follow-up of at least 2 - 5 years is mandatory.
Asunto(s)
Braquiterapia , Neoplasias de la Coroides/terapia , Hipertermia Inducida , Melanoma/terapia , Adulto , Anciano , Neoplasias de la Coroides/diagnóstico , Terapia Combinada , Femenino , Angiografía con Fluoresceína , Humanos , Masculino , Melanoma/diagnóstico , Persona de Mediana Edad , Radioisótopos de Rutenio/uso terapéutico , Resultado del TratamientoRESUMEN
PURPOSE: To report the histological findings of an eye with severe Aspergillus endophthalmitis after oral treatment with voriconazole. METHODS. Case report. RESULTS: Histopathological examination revealed no fungal elements in choroidal or retinal vessels. The hyphae were mainly restricted to the vitreal side of the preretinal inflammatory infiltrate. Since the treatment with voriconazole had not been completed at the time of enucleation, the clinical course with potential further limitation or regression of the lesion remains unsettled. CONCLUSIONS: Endogenous Aspergillus endophthalmitis is a devastating condition often associated with immunodeficiency. The pathogenesis of this entity implies the primary invasion of choroidal and retinal vessels. The lack of antifungal drugs with high blood-ocular permeability results in an extremely poor visual prognosis. Our histological examination indicates promising activity and ocular penetration of the new antifungal agent voriconazole.