ABSTRACT
Mitochondrial disorders are associated with well recognized ocular manifestations. Pearson syndrome is an often fatal, multisystem, mitochondrial disorder that causes variable bone marrow, hepatic, renal and pancreatic exocrine dysfunction. Phenotypic progression of ocular disease in a 12-year-old male with Pearson syndrome is described. This case illustrates phenotypic drift from Pearson syndrome to Kearns-Sayre syndrome given the patient's longevity. Persistent corneal endothelial failure was noted in addition to ptosis, chronic external ophthalmoplegia and mid-peripheral pigmentary retinopathy. We propose that corneal edema resulting from corneal endothelial metabolic pump failure occurs within a spectrum of mitochondrial disorders.
Subject(s)
Corneal Edema/etiology , Endothelium, Corneal/pathology , Lipid Metabolism, Inborn Errors/complications , Mitochondrial Diseases/complications , Muscular Diseases/complications , Acyl-CoA Dehydrogenase, Long-Chain/deficiency , Acyl-CoA Dehydrogenase, Long-Chain/genetics , Blepharoptosis/diagnosis , Blepharoptosis/etiology , Child , Congenital Bone Marrow Failure Syndromes , Corneal Edema/diagnosis , DNA, Mitochondrial/genetics , Fatal Outcome , Humans , Lipid Metabolism, Inborn Errors/genetics , Male , Mitochondrial Diseases/genetics , Muscular Diseases/genetics , Ophthalmoplegia/diagnosis , Ophthalmoplegia/etiology , Retinitis Pigmentosa/diagnosis , Retinitis Pigmentosa/etiologyABSTRACT
PURPOSE: In several studies, researchers have found that integration of orientation information along contours defined by Gabor patches is abnormal in patients with strabismus and in untreated patients with anisometropic amblyopia. In this study, the rate and degree of recovery of contour-integration deficits were compared with the recovery of logMAR (logarithm of the minimum angle of resolution) visual acuity deficits in patients newly diagnosed with amblyopia secondary to anisometropia, strabismus, or both. METHOD: Contour-detection thresholds and optotype acuity were measured in 17 newly diagnosed anisometropic amblyopes, in 6 patients with strabismic amblyopia, and in 4 patients with combined anisometropic and strabismic amblyopia. Contour-detection thresholds were measured with a card-based procedure. Treatment comprised full refractive correction and full-time total occlusion therapy, when necessary. Visual function was measured at monthly visits during the course of treatment, with an average follow-up period of 16 weeks (12-24 weeks) for the entire group. Complete data were obtained from 23 patients through 8 weeks of follow-up. RESULTS: Significant interocular differences in contour-detection thresholds were present in 16 of the 27 patients at the first visit after initial refractive correction. Interocular differences in contour-detection thresholds declined to normal levels in most of the patients within 8 weeks of the initiation of treatment. Interocular acuity differences remained significant in many of the patients (19/23) at 8 weeks of follow-up and continued to decline, but did not fully normalize, over the remainder of the follow-up period. CONCLUSIONS: Refractive correction alone or in combination with occlusion therapy produces a normalization of contour-integration thresholds in amblyopia that is more rapid and complete than that achieved for visual acuity.
Subject(s)
Amblyopia/therapy , Eyeglasses , Recovery of Function/physiology , Sensory Deprivation , Visual Acuity/physiology , Adolescent , Amblyopia/etiology , Anisometropia/complications , Anisometropia/therapy , Child , Child, Preschool , Combined Modality Therapy , Female , Humans , Male , Sensory Thresholds , Strabismus/complications , Strabismus/therapyABSTRACT
En el presente trabajo, el autor reúne cuáles son las principales preocupaciones y manifestaciones sintomáticas que presenta la inmensa mayoría de pacientes que se consultan en los policlínicos y, que en gran parte, posteriormente son remitidos a las consultas de psiquiatría. Teniendo en cuenta que estos conflictos y síntomas, pueden ser resueltos muy bien por el médico general, se le dan en el presente trabajo algunas pautas y orientaciones que le permitirán profundizar más en los pacientes, logrando de esta manera darle una solución a un problema y por consiguiente a sus síntomas, sin necesidad de que sea remitido a la consulta de psiquiatría. De esta forma se lograrían dos objetivos fundamentales: en primer lugar, un mayor rapport entre el paciente y el médico del área de salud; y en segundo lugar, la presión asistencial psiquiátrica no sería tan fuerte, lo que permitiría una atención especializada de alta calidad(AU)
