Diagnostic and therapeutic complexity of Susac syndrome.

A 40-year-old man who attended the emergency department with a scotoma in right eye. He mentioned hearing difficulties and headache for months and he had sensory and motor deficits in the previous days. In the ophthalmic examination, the right eye had areas of arterial occlusion. MRI revealed hyperintense lesions. The patient was diagnosed with Susac syndrome. He was treated with systemic steroids, however, it was not enough to control the condition. Rituximab and intravenous immunoglobulins were added, which allowed the improvement of neurological symptoms, but the alteration of the visual field and the hearing defect did not recover. Early diagnosis of this pathology is essential, since delaying treatment can cause irreversible consequences. Sometimes it is difficult given the wide variety of symptoms and the course of the disease. Ocular manifestations may raise suspicion when the general symptoms are nonspecific.

Síndrome de pseudo-duane paraneoplásico secundario a tumor de mama / Pseudo-duane's paraneoplasic syndrome secondary to breast tumor

Se describe el caso clínico de una mujer de 50 años con antecedentes personales de cáncer de mama, que refiere alteraciones de los movimientos oculares. En la exploración se observa una limitación de la abducción y estrechamiento de la hendidura palpebral en aducción en ambos ojos. RMN craneal y orbitaria normales. Marcadores tumorales con títulos bajos. Se realiza el diagnóstico de Síndrome de pseudo- Duane, ya que se trata de un síndrome restricitivo adquirido. En este caso, su presentación clínica es similar al síndrome Duane tipo I, siendo contradictorio a lo descrito en publicaciones previas. Por otra parte, este síndrome está relacionado en el tiempo con su patología oncológica y la RMN es normal, por lo que lo consideramos un síndrome paraneoplásico. Destacamos la originalidad del caso debido a su inusual etiología, y clínica (AU)

We report the case of a 50 years-old woman with history of breast tumor and anormal ocular motility. An examination of ocular motility revealed limited abduction and narrowing of the palpebral fissure on adduction. Orbital and cranial nuclear magnetic resonance were normal. Tumor markers had low levels. We think about her oncologic history because of the beginning of the sintomatology in this period of time. The diagnosis was Pseudo-Duane syndrome, wich is a restrictive acquired syndrome. Despite clinical presentation was similar to Duane I syndrome, it is enterely different from it. We highlight the originality of the case due to its inusual ethiology(only one case published previously) and its clinical presentation (AU)

Perforación corneal como primera manifestación de síndorme de Sjören secundario a artritis reumatoide / Corneal melts as the initial manifestation of sjögren syndrome secondary to rheumatoid arthritis

La artritis reumatoide es una enfermedad sistémica inflamatoria crónica frecuente, de etiología desconocida. El síndrome de Sjögren puede ir asociado a dicha patología. El curso clínico de la artritis reumatoide a nivel ocular es muy variable y el diagnóstico temprano es determinante para prevenir graves complicaciones. Presentamos el caso de una mujer de 64 años de edad que acudió al Servicio de Urgencias por presentar ojo rojo bilateral con fotofobia, lagrimeo continuo, dolor y disminución de la agudeza visual. En la exploración se objetivó importante adelgazamiento del estroma corneal en OD y perforación corneal OI, que requirió recubrimiento tectónico con membrana amniótica. Los análisis serológicos mostraron los siguientes resultados: Factor Reumatoide+, ANA+, ENA Anti-Ro/SSA+, ENA Anti-La/SSB+. La paciente fue diagnosticada de Artritis Reumatoide y Síndrome de Sjögren secundario. Desde entonces, sigue un tratamiento sistémico con corticoides y azatioprina. Aproximadamente, el 25% de los pacientes desarrollan enfermedad oftalmológica, esencialmente queratoconjuntivitis seca (25%), epiescleritis, escleritis y queratitis. Estas manifestaciones son en general poco severas, pero hay un pequeño porcentaje de pacientes, como el caso que aquí presentamos, que sufren una inflamación ocular grave y que sin tratamiento inmunosupresor precozmente instaurado, pueden desarrollar úlceras corneales estériles, centrales o periféricas, que les puede llevar incluso a la perforación y destrucción del globo (AU)

Rheumatoid arthritis(RA) is a common chronic inflammatory autoinmune disease, with unknown etiology. Approximately 11-31% of RA patients have secondary Sjögren´s syndrome. Ophthalmologic manifestations of these diseases can cause corneal scarring, ulceration, infection, and even perforation; thus, although the prognosis is good for most patients with Sjögren syndrome and ophthalmologic features, individuals with complications have much guarded prognosis. We report the case of a 65 years old woman with photophobia, pain, tearing and blurred vision in both eyes. Slit lamp exam showed an important corneal melting right eye, and corneal perforation left eye, which required amniotic membrane transplantation. The diagnosis was: Rheumatoid Arthritis and secondary Sjögren´s Syndrome. Azathioprine treatment was started in combination with oral steroids. Approximately 25% of patients have ocular involvement, and keratoconjunctivitis sicca is the most frequent ocular complication. Although the prognosis is good in most cases, an early diagnosis is necessary to avoid several complications (AU)

Influence of CFH, HTRA1 and ARMS2 haplotype polymorphisms in the development of age-related macular disease.

OBJECTIVE: To demonstrate genetic influence on the onset of age-related macular disease (AMD), analyzing genotype distribution of haplotypes, including polymorphisms of genes with proved relationships with AMD risk (CFH, ARMS2, HTRA1) in patients with AMD and in healthy people. METHODS: We took 101 consecutive patients with an AMD diagnosis following Wisconsin international classification. For our control group, we took 91 patients without AMD or any significant macular changes. We analyzed CFH rs1410996, ARMS2rs 10940923 polymorphisms using real time PCR with taqman probes, and HTRA1 -625 using restriction endonuclease digestion. We studied haplotypes by simultaneously combining genotypes which, in previous studies, had been shown to have relationship with AMD (CFH, ARMS2, HTRA1) in patients with AMD and healthy people. RESULTS: There was a statistically significant higher proportion of patients with AMD simultaneously expressing CFH GG (rs1410996) and ARMS2 TT (rs10940923) (P=.037; OR: 7.742 [1.010-63.156]); ARMS2 TT (rs10940923) and HTRA1-625 TT (P=.001; OR: 9.006 [2.019-40.168]) and CFH GG (rs1410996), ARMS2 TT (rs1040923) and HTRA1 -625 GG (P=.043; OR: 6.702 [1.003-55.565]) genotypes. CONCLUSIONS: Haplotypes which combine "risk genotypes", demonstrated in previous studies, of our analyzed polymorphisms are more frequent in patients with AMD than in the control group, and they seem to increase the risk of suffering the disease in our population.

Influencia de haplotipos de polimorfismos de CFH, HTRA1 y ARMS2 en la aparición de degeneración macular asociada a la edad / Influence of CFH, HTRA1 and ARMS2 haplotype polymorphisms in the development of age-related macular disease

Propósito: Demostrar la influencia genética en el desarrollo de degeneración macular asociada a la edad (DMAE) analizando las distribuciones genotípicas de haplotipos de polimorfismos de genes con relación demostrada con la aparición de DMAE (CFH, ARMS2, HTRA1) en pacientes con DMAE y personas sanas. Método: Se tomaron 101 pacientes diagnosticados de DMAE (74 exudativa y 27 atrófica) según las normas del sistema internacional de clasificación Wisconsin. Como control se tomaron 91 pacientes sin DMAE ni otras alteraciones maculares. Se analizó el polimorfismo rs 1410996 del gen CFH, el rs 10940923 de ARMS2 mediante PCR a tiempo real con sondas Taqman y el HTRA1 -625 mediante digestión con endonucleasas de restricción .Se estudió la presencia de haplotipos que combinaban los genotipos que habían demostrado aumentar el riesgo de DMAE de los polimorfismos estudiados de CFH, HTRA1 y ARMS2 en estudios previos en nuestro grupo de pacientes y el grupo control. Resultados: Se demostró que es más frecuente en el grupo de pacientes, de forma estadísticamente significativa, la expresión simultánea de los genotipos GG de CFH (rs 1410996) y TT de ARMS2 (rs 10940923) (p=0,037; OR: 7,742 [1,010-63,156]); TT de ARMS2 (rs 10940923) y GG de HTRA1-625 (p=0,001; OR: 9,006 [2,019-40,168]) y GG de CFH (rs1410996), TT de ARMS2 (rs 1040923) y GG de HTRA1 -625 (p=0,043; OR: 6,702 [1,003-55,565]). Conclusiones: La presencia de haplotipos que combinan genotipos, considerados de riesgo en estudios previos, de los polimorfismos analizados es más frecuente en pacientes con DMAE y parece aumentar el riesgo de padecer la enfermedad en nuestra población(AU)

Objective: To demonstrate genetic influence on the onset of age-related macular disease (AMD), analyzing genotype distribution of haplotypes, including polymorphisms of genes with proved relationships with AMD risk (CFH, ARMS2, HTRA1) in patients with AMD and in healthy people. Methods: We took 101 consecutive patients with an AMD diagnosis following Wisconsin international classification. For our control group, we took 91 patients without AMD or any significant macular changes. We analyzed CFH rs 1410996, ARMS2 rs 10940923 polymorphisms using real time PCR with taqman probes, and HTRA1 -625 using restriction endonuclease digestion. We studied haplotypes by simultaneously combining genotypes which, in previous studies, had been shown to have relationship with AMD (CFH, ARMS2, HTRA1) in patients with AMD and healthy people. Results: There was a statistically significant higher proportion of patients with AMD simultaneously expressing CFH GG (rs 1410996) and ARMS2 TT (rs 10940923) (P=0.037; OR: 7.742 [1.010-63.156]); ARMS2 TT (rs 10940923) and HTRA1-625 TT (P=0.001; OR: 9.006 [2.019-40.168]) and CFH GG (rs 1410996), ARMS2 TT (rs 1040923) and HTRA1 -625 GG (P=0.043; OR: 6.702 [1.003-55.565]) genotypes. Conclusions: Haplotypes which combine «risk genotypes», demonstrated in previous studies, of our anlyzed polymorphisms are more frequent in patients with AMD than in the control group, and they seem to increase the risk of suffering the disease in our population(AU)