ABSTRACT
We report a case of a patient treated with tamoxifen 20mg daily as hormone therapy for breast cancer. On regular ophthalmological follow-up, tamoxifen maculopathy was detected on SD-OCT (Spectral Domain Optic Coherence Tomography, Carl Zeiss Meditec®), so the medication was discontinued. Despite discontinuation of the medication, the maculopathy progressed over time. We have been following our patient for seven years. Tamoxifen may produce a toxic maculopathy which may progress despite discontinuation of the medication. We consider our case interesting, given the lengthy follow-up of the patient with sequential SD-OCT images. To the best of our knowledge, our case represents the longest follow-up period for a patient with tamoxifen maculopathy. Moreover, we would like to stress the importance of screening in asymptomatic patients on this medication, in order to detect early pathological signs.
Subject(s)
Monitoring, Physiologic , Retinal Diseases/chemically induced , Retinal Diseases/diagnosis , Tamoxifen/adverse effects , Aged , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Breast Neoplasms/drug therapy , Breast Neoplasms/pathology , Female , Fluorescein Angiography , Follow-Up Studies , Humans , Macula Lutea/drug effects , Macula Lutea/pathology , Macular Degeneration/chemically induced , Macular Degeneration/diagnosis , Macular Degeneration/pathology , Monitoring, Physiologic/methods , Retinal Diseases/pathology , Tamoxifen/administration & dosage , Tomography, Optical CoherenceABSTRACT
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Subject(s)
Humans , Animals , Female , Eye Foreign Bodies/diagnostic imaging , Eye Foreign Bodies/therapy , Animal Structures , Larva , LepidopteraSubject(s)
Eye Foreign Bodies , Animal Structures , Animals , Eye Foreign Bodies/diagnostic imaging , Eye Foreign Bodies/therapy , Female , Humans , Larva , LepidopteraABSTRACT
Objetivos y métodos: Nuestro objetivo es describir una variante multifocal en la presentación de la enfermedad de Best. Las lesiones en esta enfermedad pueden variar en forma y tamaño, algunas llegan a medir un diámetro de disco y presentan un contorno irregular. Describimos el caso de un varón de 21 años que fue remitido por pérdida visual progresiva. Confirmamos su baja agudeza visual y realizamos un examen completo, donde pudimos apreciar flecks maculares con pigmento amarillento en su periferia. Sospechamos de una enfermedad de Best multifocal y realizamos los test genéticos pertinentes. La enfermedad de Best multifocal es parecida a la forma clásica, aunque suele cursar con electrooculograma normal y sin antecedentes familiares de la misma. Conclusión: La enfermedad de Best multifocal debe ser sospechada en el caso de lesiones múltiples vitelorruptivas cercanas al polo posterior. Las pruebas genéticas constituyen la clave diagnóstica (AU)
Objectives and methods: Our objective is to describe a multifocal vitelliform presentation of Best's disease. The lesions in this disease may vary in size and shape, some may be a disc diameter in size, and often have some irregularity in their contour. The case is described of a 21-year-old male patient referred to our ophthalmology department due to a progressive loss of vision. His poor visual acuity was confirmed, and a complete examination was performed, in which macular flecks were observed, with yellow pigment arranged in oval distribution near their periphery. Due to the suspicion of Best's multifocal disease, genetic tests were performed. Multifocal vitelliform disease with the same features as those in Best's disease occurs most frequently in patients with a normal electro-oculogram (EOG), and a normal family history. Conclusion: Best's multifocal disease must be suspected in case of multiple vitelliruptive lesions close to the posterior pole. Genetic testing is essential for its diagnosis (AU)
Subject(s)
Humans , Male , Young Adult , Vitelliform Macular Dystrophy/genetics , Electrooculography/methods , Genetic Testing/methods , Genetic Diseases, Inborn/genetics , Vision Disorders/diagnosis , Retinal Dystrophies/diagnosis , Tomography, Optical Coherence , Diagnosis, Differential , Genetic TherapyABSTRACT
OBJECTIVES AND METHODS: Our objective is to describe a multifocal vitelliform presentation of Best's disease. The lesions in this disease may vary in size and shape, some may be a disc diameter in size, and often have some irregularity in their contour. The case is described of a 21-year-old male patient referred to our ophthalmology department due to a progressive loss of vision. His poor visual acuity was confirmed, and a complete examination was performed, in which macular flecks were observed, with yellow pigment arranged in oval distribution near their periphery. Due to the suspicion of Best's multifocal disease, genetic tests were performed. Multifocal vitelliform disease with the same features as those in Best's disease occurs most frequently in patients with a normal electro-oculogram (EOG), and a normal family history. CONCLUSION: Best's multifocal disease must be suspected in case of multiple vitelliruptive lesions close to the posterior pole. Genetic testing is essential for its diagnosis.
Subject(s)
Vitelliform Macular Dystrophy/genetics , Genetic Testing , Humans , Male , Vitelliform Macular Dystrophy/diagnostic imaging , Young AdultABSTRACT
No disponible
Subject(s)
Humans , Tomography, Optical Coherence/methods , Tomography, Optical Coherence/trends , Tomography, Optical Coherence , Retinal Diseases , Glaucoma/prevention & control , Glaucoma , Tomography, Optical Coherence/classification , Tomography, Optical Coherence/instrumentation , Tomography, Optical Coherence/standards , Ophthalmoscopy/trends , OphthalmoscopyABSTRACT
CASO CLÍNICO: Paciente varón de 57 años que refiere visión doble y mareo de aparición brusca. A la exploración oftalmológica se observó una exotropía evidente en posición primaria de la mirada, ausencia de aducción de ambos ojos, nistagmo en abducción e incapacidad para la convergencia. Ante la sospecha de oftalmoplejía internuclear (OIN) bilateral se realizan pruebas de imagen y de laboratorio. La RMN craneal objetiva una lesión isquémica subaguda en el centro del mesencéfalo, afectando a los núcleos motores oculares comunes. Las pruebas para sífilis fueron positivas en sangre y líquido cefalorraquídeo .DISCUSIÓN: El síndrome de webino es muy infrecuente y de difícil diagnóstico. En el caso presentado, la lesión se encuentra perfectamente localizada en la zona media de la protuberancia, afectando a los núcleos motores oculares comunes. La rápida derivación del paciente y el establecimiento de tratamiento con penicilina posibilitaron la mejoría del cuadro
CASE REPORT: The patient is a 57-year-old obese and hypertensive male. His chief complaints were double vision and dizziness, with mild exodeviation in both eyes in primary gaze position in the ocular motility examination, but more predominant in the left eye. The exotropia was noticeably more evident on the attempted upgaze. On horizontal gaze, the abducting eye deviated fully, but the adducting eye did not cross the midline. Nystagmus in the abducting eye and convergence impairment were found. Pupil size and testing were normal. Ataxia and areflexia were also present. Bilateral internuclear ophthalmoplegia was suspected and imaging and laboratory tests were performed. The CAT scan showed a right occipital hypo-attenuated lesion. In the MRI scan, a mesencephalic subacute ischemic lesion was found, involving the medial rectus sub-nuclei. Blood and cerebrospinal fluid test for syphilis were positive. DISCUSSION: Bilateral internuclear ophthalmoplegia is a very uncommon -and difficult to diagnose- condition. In the reported case the lesion involved the medial rectus sub-nuclei. This fact could explain the exotropia in the primary gaze position, and supports that is not possible to exclude the involvement of the medial rectus sub-nuclei in the webino syndrome. The rapid identification of the pathology contributed to the better prognosis of the patient
Subject(s)
Humans , Male , Middle Aged , Neurosyphilis/complications , Ocular Motility Disorders/etiology , Diplopia/etiology , Dizziness/etiology , Exotropia/etiology , Magnetic Resonance SpectroscopyABSTRACT
CASE REPORT: The patient is a 57-year-old obese and hypertensive male. His chief complaints were double vision and dizziness, with mild exodeviation in both eyes in primary gaze position in the ocular motility examination, but more predominant in the left eye. The exotropia was noticeably more evident on the attempted upgaze. On horizontal gaze, the abducting eye deviated fully, but the adducting eye did not cross the midline. Nystagmus in the abducting eye and convergence impairment were found. Pupil size and testing were normal. Ataxia and areflexia were also present. Bilateral internuclear ophthalmoplegia was suspected and imaging and laboratory tests were performed. The CAT scan showed a right occipital hypo-attenuated lesion. In the MRI scan, a mesencephalic subacute ischemic lesion was found, involving the medial rectus sub-nuclei. Blood and cerebrospinal fluid test for syphilis were positive. DISCUSSION: Bilateral internuclear ophthalmoplegia is a very uncommon -and difficult to diagnose- condition. In the reported case the lesion involved the medial rectus sub-nuclei. This fact could explain the exotropia in the primary gaze position, and supports that is not possible to exclude the involvement of the medial rectus sub-nuclei in the webino syndrome. The rapid identification of the pathology contributed to the better prognosis of the patient.
Subject(s)
Exotropia/etiology , Neurosyphilis/complications , Ocular Motility Disorders/etiology , Syphilis, Cardiovascular/complications , Humans , Male , Middle Aged , SyndromeABSTRACT
Caso clínico: Presentamos el caso de un niño de 10 años con una distrofia macular viteliforme bilateral, en progresión, y el padre con estadios finales en ambos ojos; se estudia la evolución con la tomografía óptica de coherencia. Discusión: La tomografía óptica de coherencia es una herramienta útil y no invasiva, que permite complementar el diagnóstico y el seguimiento de los pacientes, aportando datos morfológicos de la lesión así como cambios secundarios en la retina adyacente. Demuestra la localización del material amarillento depositado bajo la retina sensorial
Case report: We report the case of a 10-year-old boy with a progressive bilateral vitelliform macular dystrophy, and his father with terminal stage disease in both eyes; we studied the development and progression of this condition with optical coherence tomography. Discussion: Optical coherence tomography is a useful noninvasive tool that complements other diagnostic modalities and improves the follow up assessment. It provides additional information on the morphology of the lesion as well as identifying secondary changes in the adjacent retina. It also demonstrates the location of any yellowish material under the sensory retina (Arch Soc Esp Oftalmol 2008; 83: 501-504)
Subject(s)
Humans , Male , Child , Tomography, Optical Coherence/methods , Muscular Dystrophies/complications , Pigment Epithelium of Eye/pathology , Tomography, Optical Coherence/trends , Tomography, Optical Coherence , Fibrosis/pathologyABSTRACT
CASE REPORT: We report the case of a 10-year-old boy with a progressive bilateral vitelliform macular dystrophy, and his father with terminal stage disease in both eyes; we studied the development and progression of this condition with optical coherence tomography. DISCUSSION: Optical coherence tomography is a useful noninvasive tool that complements other diagnostic modalities and improves the follow up assessment. It provides additional information on the morphology of the lesion as well as identifying secondary changes in the adjacent retina. It also demonstrates the location of any yellowish material under the sensory retina.
Subject(s)
Macular Degeneration/diagnosis , Tomography, Optical Coherence , Child , Disease Progression , Fluorescein Angiography , Fundus Oculi , Humans , Macular Degeneration/classification , Macular Degeneration/genetics , Male , Middle Aged , Visual AcuityABSTRACT
CASE REPORT: We present two cases of sialidosis type 1 in two brothers, 28 and 30 years of age. Both have seizures and severe gait instability. Ophthalmoscopic examination showed a cherry-red spot in both eyes. Fibroblast culture revealed a marked reduction in neuraminidase with no alteration in galactosidase, confirming that our patients have sialidosis type I. CONCLUSIONS: We highlight the ease with which this rare syndrome can remain undetected and how a simple ophthalmoscopic examination is able to reveal the diagnosis.
Subject(s)
Mucolipidoses/diagnosis , Ophthalmoscopy , Adult , Electroretinography , Evoked Potentials, Visual , Humans , Magnetic Resonance Imaging , Male , Mucolipidoses/genetics , Phenotype , Tomography, Optical CoherenceABSTRACT
Caso clínico: Presentamos dos casos de sialidosis tipo I en dos hermanos de 28 y 30 años. Presentan convulsiones y gran inestabilidad en la marcha. En la exploración funduscópica, se observan en ambos ojos manchas rojo cereza. Se realiza cultivo de fibroblastos, observándose un marcado déficit de neuraminidasa sin alteración de la B-galactosidasa, lo que confirma que estamos ante un caso de sialidosis tipo I.Conclusiones: Observamos la gran facilidad de este raro síndrome para pasar inadvertido a lo largo de los años y como la simple exploración oftalmológica de la mancha rojo cereza nos hace orientar el cuadro clínico (AU)
Case report: We present two cases of sialidosis type 1 in two brothers, 28 and 30 years of age. Both have seizures and severe gait instability. Ophthalmoscopic examination showed a cherry-red spot in both eyes. Fibroblast culture revealed a marked reduction in neuraminidase with no alteration in galactosidase, confirming that our patients have sialidosis type I. Conclusions: We highlight the ease with which this rare syndrome can remain undetected and how a simple ophthalmoscopic examination is able to reveal the diagnosis (AU)
