RESUMEN
PURPOSE: To report the clinical case of a 65-year-old male who developed retinal dysfunction following cobalt-chromium toxicity. METHODS: A review of the clinical, haematological, radiological and electrophysiological investigations into a single patient was performed in order to form a case report. RESULTS: A 65-year-old male presented to his ophthalmologist with a 1-year history of worsening vision on the background of a multisystem illness including motor axonopathy, pericardiomyopathy and bulbar palsy. His medical history included hypertension, hypercholesterolaemia and a metallic hip prosthesis. Ocular examination revealed significantly reduced visual acuity bilaterally along with very poor colour vision. Cornea, fundi and optic discs all appeared normal. Bilateral moderate nuclear sclerosis was noted. Basic investigations including mitochondrial studies, auto-immune screen and MRI of brain were unremarkable. Further investigations showed significantly elevated plasma cobalt and chromium levels. Electrophysiological studies revealed an abnormality in all phases of the ERG including a negative b-waveform, suggestive of inner retinal pathology. Following subsequent revision of the hip, cobalt and chromium levels decreased and the patient's vision improved. Further electrophysiological testing indicates a persistent ERG abnormality despite a significant improvement in both the patient's visual acuity and colour vision. CONCLUSIONS: These results suggest that cobalt-chromium toxicity can cause inner retinal dysfunction.
Asunto(s)
Aleaciones de Cromo/envenenamiento , Potenciales Evocados Visuales/efectos de los fármacos , Retina/efectos de los fármacos , Enfermedades de la Retina/inducido químicamente , Anciano , Artroplastia de Reemplazo de Cadera , Electrorretinografía , Prótesis de Cadera/efectos adversos , Humanos , Masculino , Retina/patología , Retina/fisiopatología , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/fisiopatología , Agudeza VisualRESUMEN
Marfan syndrome is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutation of the FBN1 gene on human chromosome 15. There are a number of conditions of the connective tissue with a similar phenotype that can be confused with Marfan syndrome. Modifications of the diagnostic criteria have recently been published, facilitating the differentiation of Marfan syndrome from these conditions. It is still difficult to use modern genetic testing for diagnosis because Marfan syndrome can be caused by many different mutations in FBN1, a large gene with 65 coding segments, while mutations in other genes can cause overlapping phenotypes. Several clinical trials of drug therapy, including the antihypertensive drug losartan, are in progress.
Asunto(s)
Enfermedades del Tejido Conjuntivo/diagnóstico , Síndrome de Marfan/diagnóstico , Diagnóstico Diferencial , Pruebas Genéticas , Humanos , Síndrome de Marfan/genética , Síndrome de Marfan/terapia , MutaciónRESUMEN
Marfan syndrome (MFS) is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutations in the FBN1 gene on chromosome 15. Diagnosis is challenging as it requires definition of diverse clinical features and input from a variety of specialists. Genetic testing of FBN1 is time consuming, expensive and complex, and may not solve the diagnostic dilemma. Failure to make a diagnosis or making an inappropriate diagnosis of MFS has social, lifestyle and medical consequences for the individual as well as the family.