Retinosquisis ligada al X en homocigosis: A propósito de un caso / X-linked retinoschisis: About a case

La retinosquisis ligada al cromosoma X (RLX) es una causa de degeneración retiniana que afecta a varones en edades tempranas. Los desórdenes ligados al cromosoma X clásicamente afectan sólo a varones. Presentamos el caso de una mujer de 10 años de edad, con el espectro completo de la patología. MAVC 0.7 AO. En la tomografía de coherencia óptica (TCO) presentaba alteración foveal bilateral de aspecto quístico. En el estudio genético se identifica la variante c.644A>T (p.Glu215Gly) en el gen RS1 en homocigosis, asociada a retinosquisis con modo de herencia recesiva ligada al X. La RXL es una condición que tiene una gran variedad en la severidad de la enfermedad y no existe correlación entre esta última y la progresión de la patología. La enfermedad ha sido descrita en un limitado número de mujeres principalmente en familias con alto grado de consanguinidad (AU)

X-linked retinoschisis (XLR) is a cause of retinal degeneration that affects males at an early age. X-linked disorders classically affect only males. We present the case of a 10-year-old female with the full spectrum of the pathology. BCVA 0.7 OU. Optical coherence tomography (OCT) showed bilateral foveal alteration with cystic appearance. The genetic study identified the variant c.644A>T (p.Glu215Gly) in the RS1 gene in homozygosis, associated with retinoschisis with X-linked recessive mode of inheritance. XLR is a condition that has a great variety in the severity of the disease and there is no correlation between the latter and the progression of the pathology. The disease has been described in a limited number of females mainly in families with high degree of consanguinity (AU)

X-linked retinoschisis: About a case.

X-linked retinoschisis (XLR) is a cause of retinal degeneration that affects males at an early age. X-linked disorders classically affect only males. We present the case of a 10-year-old female with the full spectrum of the pathology. BCVA 0.7 OU. Optical coherence tomography (OCT) showed bilateral foveal alteration with cystic appearance. The genetic study identified the variant c.644A>T (p.Glu215Gly) in the RS1 gene in homozygosis, associated with retinoschisis with X-linked recessive mode of inheritance. XLR is a condition that has a great variety in the severity of the disease and there is no correlation between the latter and the progression of the pathology. The disease has been described in a limited number of females mainly in families with high degree of consanguinity.

Parálisis oculomotoras en el contexto de una reactivación del virus varicela-zóster: a propósito de 4 casos / Oculomotor nerve palsy in herpes zoster ophthalmicus: Presentation of 4 cases

La infección por el virus varicela-zóster (VVZ) tiene una alta prevalencia a nivel mundial. De las muchas manifestaciones oftalmológicas que puede manifestar, la diplopía de aparición brusca es una de ellas. Revisamos 4 casos clínicos de mononeuritis del III y VI par craneales en el contexto de vesículas herpéticas por el VVZ y revisamos la fisiopatología y las manifestaciones clínicas más importantes. Es obligado para el oftalmólogo descartar complicaciones mediante pruebas de imagen y el correcto tratamiento con antivirales sistémicos

Varicella zoster virus (VZV) infection has a high prevalence worldwide. Within the multiple ophthalmologic manifestations that VZV can cause, sudden diplopia is among them. A review is presented of four clinical cases of 3rd and 4th oculomotor nerve palsies in herpes zoster ophthalmicus. A review is also presented of the physiopathology and most important clinical manifestations. Imaging tests are essential in order to rule out complications. Systemic antiviral administration is the correct treatment

Oculomotor nerve palsy in herpes zoster ophthalmicus: Presentation of 4 cases. / Parálisis oculomotoras en el contexto de una reactivación del virus varicela-zóster: a propósito de 4 casos.

Varicella zoster virus (VZV) infection has a high prevalence worldwide. Within the multiple ophthalmologic manifestations that VZV can cause, sudden diplopia is among them. A review is presented of four clinical cases of 3rd and 4th oculomotor nerve palsies in herpes zoster ophthalmicus. A review is also presented of the physiopathology and most important clinical manifestations. Imaging tests are essential in order to rule out complications. Systemic antiviral administration is the correct treatment.

Manifestaciones neuroftalmológicas como complicación de una infección por Mycoplasma pneumoniae y desarrollo posterior de una encefalitis aguda diseminada / Neuro-ophthalmological manifestations as complication of an infection with Mycoplasma pneumoniae and subsequent development of disseminated acute encephalitis

El objetivo es describir dos cuadros clínicos neuroftalmológicos en niños por infección sistémica por Mycoplasma pneumoniae (M. pneumoniae). Se presentan los casos de dos niñas de 14 y 12 años que acudieron a urgencias: la primera con oftalmoplejía internuclear y la segunda con pérdida de visión y cefalea. No presentaban otra focalidad neurológica. En la imagen de resonancia magnética se evidenciaron placas hiperintensas en ambas, sugerentes de cuadro desmielinizante. Al mes, los síntomas neuroftalmológicos se resolvieron y las resonancias magnéticas de control fueron normales. El diagnóstico fue encefalitis diseminada aguda secundaria a M. pneumoniae. El diagnóstico se hace por PCR (gold standard) y/o IgM en serología. Es importante pensar en esta posible etiología ante casos sugerentes de enfermedad desmielinizante. Existe controversia sobre el papel de los antibióticos y si se contemplan los corticoides. Como conclusión, M. pneumoniae debe ser diagnóstico diferencial en afectaciones neuroftalmológicas agudas en niños

The purpose of this article is to describe two paediatric neuro-ophthalmological clinical cases caused by a systemic infection due to Mycoplasma pneumoniae (M. pneumoniae). The cases are two girls aged 14 and 12 seen in the Emergency Department: The first one had internuclear ophthalmoplegia and second with loss of vision and headache. They had no other neurological foci. Magnetic resonance imaging showed hyperintense plaques in both, suggestive of a demyelinating disease. One month later, the neuro-ophthalmological symptoms resolved, with normal follow-up magnetic resonance imagings. The diagnosis was acute disseminated encephalitis secondary to M. pneumoniae. The diagnosis was made using PCR (gold standard) and/or IgM in serology. It is important to think about this possible aetiology in cases of suggestive demyelinating disease. There is controversy about the role of antibiotics and on whether corticosteroids are contemplated. In conclusion, M. pneumoniae must be a differential diagnosis in acute neuro-ophthalmological disorders in children

Neuro-ophthalmological manifestations as complication of an infection with Mycoplasma pneumoniae and subsequent development of disseminated acute encephalitis. / Manifestaciones neuroftalmológicas como complicación de una infección por Mycoplasma pneumoniae y desarrollo posterior de una encefalitis aguda diseminada.

The purpose of this article is to describe two paediatric neuro-ophthalmological clinical cases caused by a systemic infection due to Mycoplasma pneumoniae (M. pneumoniae). The cases are two girls aged 14 and 12 seen in the Emergency Department: The first one had internuclear ophthalmoplegia and second with loss of vision and headache. They had no other neurological foci. Magnetic resonance imaging showed hyperintense plaques in both, suggestive of a demyelinating disease. One month later, the neuro-ophthalmological symptoms resolved, with normal follow-up magnetic resonance imagings. The diagnosis was acute disseminated encephalitis secondary to M. pneumoniae. The diagnosis was made using PCR (gold standard) and/or IgM in serology. It is important to think about this possible aetiology in cases of suggestive demyelinating disease. There is controversy about the role of antibiotics and on whether corticosteroids are contemplated. In conclusion, M. pneumoniae must be a differential diagnosis in acute neuro-ophthalmological disorders in children.

Brinzolamida tópica en el nistagmo congénito: Estudio retrospectivo / Topical brinzolamide in congenital nystagmus: A retrospective study

Objetivo: Evaluar los efectos del tratamiento con brinzolamida tópica en la agudeza visual y en la intensidad del nistagmo en pacientes con nistagmo congénito. Material y métodos: Se diseñó un estudio retrospectivo en el que se revisaron las historias clínicas de 11 pacientes con nistagmo congénito. A todos los pacientes se les realizó una exploración oftalmológica completa y una videooculografía mediante VOG-Perea, antes y a los 3 días de iniciar el tratamiento con brinzolamida tópica (Azopt) cada 8horas. Cinco investigadores expertos evaluaron la intensidad del nistagmo de forma enmascarada mediante un vídeo antes y después del tratamiento. Por último, se registró la mejoría subjetiva de los pacientes. Resultados: Se encontraron diferencias estadísticamente significativas en la agudeza visual binocular de cerca previa y posterior al tratamiento. Se encontró un leve aumento de la frecuencia del nistagmo, que fue estadísticamente significativa en la mirada horizontal hacia la izquierda y con la mirada hacia abajo (p = 0,04, p = 0,03 significativo). El índice Kappa de concordancia entre los investigadores evaluando la intensidad del nistagmo fue de 0,014. Solo 2 de los pacientes notaron mejoría en la agudeza visual y un paciente notó mejoría en el aspecto estético. Conclusiones: A pesar de producirse una mejoría en el nistagmo, esta es leve, no apreciable cosméticamente por los pacientes en la mayoría de los casos, y no se relacionó con una mejoría significativa en la agudeza visual ni en la calidad de vida de los pacientes. Son necesarios nuevos estudios para evaluar los efectos de la brinzolamida tópica y establecer las posibles indicaciones terapéuticas en el nistagmo (AU)

Objective: To evaluate the effect of treatment with topical brinzolamide on visual acuity and nystagmus intensity in patients with congenital nystagmus. Material and methods: A retrospective study was designed in which the clinical records of 14 patients with congenital nystagmus were reviewed. All patients underwent a complete ophthalmological examination and a Perea video-oculography (VOG) before, and three days after, initiation of treatment with topical brinzolamide (Azopt). Five expert researchers evaluated the intensity of nystagmus by video before and after treatment. Finally, the subjective improvement of the patients was recorded. Results: Statistically significant differences were found in pre- and post-treatment binocular near visual acuity. A slight increase in the frequency of nystagmus was found, which was statistically significant with the horizontal gaze to the left and with the gaze downwards (P = .04, P = .03, respectively). The kappa index concordance between the researchers evaluating the intensity of nystagmus was 0.014. Only two of the patients noticed improvement in visual acuity, and one patient noticed improvement in the aesthetic aspect. Conclusions: In spite of an improvement in nystagmus, it was slight, not cosmetically appreciable by patients in most cases, and was not related to a significant improvement in visual acuity or in patient quality of life. Further studies are needed to evaluate the effects of topical brinzolamide, and to establish potential therapeutic indications in nystagmus (AU)

Topical brinzolamide in congenital nystagmus: A retrospective study. / Brinzolamida tópica en el nistagmo congénito: Estudio retrospectivo.

OBJECTIVE: To evaluate the effect of treatment with topical brinzolamide on visual acuity and nystagmus intensity in patients with congenital nystagmus. MATERIAL AND METHODS: A retrospective study was designed in which the clinical records of 14 patients with congenital nystagmus were reviewed. All patients underwent a complete ophthalmological examination and a Perea video-oculography (VOG) before, and three days after, initiation of treatment with topical brinzolamide (Azopt). Five expert researchers evaluated the intensity of nystagmus by video before and after treatment. Finally, the subjective improvement of the patients was recorded. RESULTS: Statistically significant differences were found in pre- and post-treatment binocular near visual acuity. A slight increase in the frequency of nystagmus was found, which was statistically significant with the horizontal gaze to the left and with the gaze downwards (P=.04, P=.03, respectively). The kappa index concordance between the researchers evaluating the intensity of nystagmus was 0.014. Only two of the patients noticed improvement in visual acuity, and one patient noticed improvement in the aesthetic aspect. CONCLUSIONS: In spite of an improvement in nystagmus, it was slight, not cosmetically appreciable by patients in most cases, and was not related to a significant improvement in visual acuity or in patient quality of life. Further studies are needed to evaluate the effects of topical brinzolamide, and to establish potential therapeutic indications in nystagmus.

[Study of the retinal nerve fiber layer in childhood strabismus]. / Estudio de la capa de fibras nerviosas de la retina en el estrabismo infantil.

OBJECTIVE: To assess possible differences in the retinal nerve fiber layer (RNFL) thickness between children with strabismus and controls. This study also compared esotropia with exotropia cases, and dominant eyes with non-dominant eyes. METHOD: 31 children with esotropia, 17 children with exotropia and 32 controls were studied. The peripapillary RNFL average thickness was determined in 4 different areas (inferior, superior, nasal and temporal) using optical coherence tomography. Statistical analysis was performed a) between the strabic children and the control group, b) between the esotropia and exotropia groups, and c) between the dominant eyes and the non-dominant eyes of the strabic children. RESULTS: No statistically significant differences in RNFL thickness were found in any of these statistical comparisons. CONCLUSIONS: From this study, no evidence of changes in RNFL thickness, associated to the existence of strabismus, were found.

Estudio de la capa de fibras nerviosas de la retina en el estrabismo infantil / Study of the retinal nerve fiber layer in childhood strabismus

Objetivo: Comprobar si existen diferencias en el grosor de la capa de fibras nerviosas de la retina (CFNR) entre niños estrábicos y niños con visión binocular normal. Estas diferencias también se estudiaron entre niños con endotropía y exotropía y entre los ojos dominantes y no dominantes de niños estrábicos.Método: Se incluyeron 31 niños con endotropía, 17 con exotropía y 32 niños controles. Se midió la CFNR peripapilar de ambos ojos mediante tomógrafo óptico de coherencia, obteniéndose los grosores en 4 sectores: superior (S), inferior (I), nasal (N) y temporal (T). Se determinó estadísticamente (p0,05 t de Student).Conclusiones: Según los casos aquí comparados, no hay variaciones de la capa de fibras nerviosas de la retina que se asocien con la existencia de estrabismo

Objective: To assess possible differences in the retinal nerve fiber layer (RNFL) thickness between children with strabismus and controls. This study also compared esotropia with exotropia cases, and dominant eyes with non-dominant eyes. Method: 31 children with esotropia, 17 children with exotropia and 32 controls were studied. The peripapillary RNFL average thickness was determined in 4 different areas (inferior, superior, nasal and temporal) using optical coherence tomography. Statistical analysis was performed a) between the strabic children and the control group, b) between the esotropia and exotropia groups, and c) between the dominant eyes and the non-dominant eyes of the strabic children. Results: No statistically significant differences in RNFL thickness were found in any of these statistical comparisons. Conclusions: From this study, no evidence of changes in RNFL thickness, associated to the existence of strabismus, were found

[Peripheral homonymous hemianopia. A case report]. / Hemianopsia homónima periférica. A propósito de un caso.

CASE REPORT: A 63-year-old male with a history of hypertension, hypercholesterolemia and chronic smoking, presented with a loss of the temporal visual field of right eye (RE). A restriction of the temporal field of RE and also of the nasal field of left eye was clinically suspected when the patient was tested by confrontation. A kinetic perimetry confirmed the existence of a right homonymous hemianopia that was very eccentric in both eyes (beyond the central 50 degrees). Brain magnetic resonance images revealed a well-circumscribed infarction in the ventral portion of the left calcarine fissure that was consistent with the patient's visual field loss. DISCUSSION: Peripheral homonymous hemianopsia is a rare condition that is caused by a partial infarction of the most ventral striate cortex. Kinetic perimetry provided the most helpful information about the referred scotomas.

Hemianopsia homónima periférica. A propósito de un caso / Peripheral homonymous hemianopia. A case report

Caso clinico: Se trata de un varón de 63 años con antecedentes de hipertensión, hipercolesterolemia y tabaquismo, que refería una disminución del campo visual temporal del OD. Mediante una campimetría de confrontación, se sospechó la existencia de una restricción periférica del campo temporal del OD pero también del campo nasal del OS. Con perimetría cinética presentaba un hemianopsia homónima derecha con escotoma periférico excéntrico a 50º en ambos ojos.Mediante resonancia magnética (RM) cerebral se evidenció un infarto poco extenso y limitado, localizado en una región anterior de la cisura calcarina izquierda, concordante con el defecto perimétrico que presentaba el paciente.Discusión: La hemianopsia homónima periférica es una alteración poco habitual, consecuencia de un infarto parcial de la porción más ventral del córtex estriado. La perimétrica cinética fue la técnica que mejor delimitó los referidos escotomas

Case report: A 63-year-old male with a history of hypertension, hypercholesterolemia and chronic smoking, presented with a loss of the temporal visual field of right eye (RE). A restriction of the temporal field of RE and also of the nasal field of left eye was clinically suspected when the patient was tested by confrontation. A kinetic perimetry confirmed the existence of a right homonymous hemianopia that was very eccentric in both eyes (beyond the central 50º). Brain magnetic resonance images revealed a well-circumscribed infarction in the ventral portion of the left calcarine fissure that was consistent with the patient´s visual field loss. Discussion: Peripheral homonymous hemianopsia is a rare condition that is caused by a partial infarction of the most ventral striate cortex. Kinetic perimetry provided the most helpful information about the referred scotomas

[Residual myopia after penetrating keratoplasty for keratoconus]. / Miopía residual tras queratoplastia penetrante en queratocono.

PURPOSE: To study the results of penetrating keratoplasty for keratoconus analyzing the differences in ultimate spherical equivalent according to graft size and the trephine used in the recipient. MATERIAL AND METHODS: Retrospective study of 38 patients that were divided into three groups. Group A is composed of patients with a 0.50 mm donor-recipient difference, 0.25 mm in group B and same-sized in group C. In each group visual acuity, spheric equivalent, keratometry and other parameters were assessed. Statistical analysis was performed by comparing the means of the parameters evaluated. RESULTS: We found a better final visual acuity in group C when compared with group A, and a lower spherical equivalent when we compared groups A with C and A with B. The results were better in those groups where the donor-recipient difference was smaller. CONCLUSIONS: We believe that it is convenient to minimize the size difference between donor and recipient or to use same-sized trephines to diminish the final spheric equivalent.

Miopía residual tras queratoplastia penetrante en queratocono / Residual myopia after penetrating keratoplasty for keratoconus

Objetivo: Realizar una revisión de pacientes con queratocono intervenidos de queratoplastia penetrante (QPP), buscando diferencias en el equivalente esférico final en función del tamaño del injerto y trepanación utilizados. Material y métodos: Estudio descriptivo retrospectivo de 38 pacientes divididos en tres grupos. En el grupo A los pacientes con diferencia de tamaño donante-receptor de 0,50 mm, en el B de 0,25 mm y en el C con el mismo tamaño entre donante y receptor. Se valora en cada uno de ellos la AV, equivalente esférico, queratometría y otros. Analizamos estadísticamente los datos obtenidos comparando las medias de las variables de los distintos grupos. Resultados: Se encontraron diferencias estadísticamente significativas al comparar la agudeza visual final entre los grupos de 0,50 mm y los de mismo tamaño donante-receptor, siendo 3 veces mejor en este último. El equivalente esférico final fue más cercano a la emetropía al comparar el grupo de 0,50 con el de 0,25 y al comparar el grupo de 0,50 con el de mismo tamaño, con mejores resultados en los grupos en los que la diferencia donante-receptor era menor. Conclusiones: Creemos conveniente minimizar la diferencia donante-receptor o bien usar tamaños iguales con el fin de disminuir el equivalente esférico final (AU)

[Bilateral acute retinal necrosis due to herpes simplex virus in inmunocompetent people and acyclovir resistance]. / Necrosis retiniana aguda bilateral por herpes simple en individuo inmunocompetentes y resistencia a aciclovir.

CASE REPORT: A twenty-eight year old woman with necrotitizing retinitis and herpes simplex virus type 1 isolated in aqueous humor with polymerase chain reaction (PCR). An Acyclovir and corticosteroid therapy was started with unsuccessful response, Foscarnet was added getting quiescence of lesions. DISCUSSION: Acute Retinal Necrosis Syndrome (ARNS), induced by a virus of the herpes family, could develop in immunocompetent people. A characteristic clinical case with uveitis and vitritis, white retinitis areas and occlusive vasculitis is reported. Antiviral therapy with acyclovir and antiinflammatory treatment must be established quickly. Foscarnet can effectively treat ARNS in inmunocompetent patients. In spite of therapy, this is a potentially blinding retinal disease.

Necrosis retiniana aguda bilateral por herpes simple en individuo inmunocompetentes y resistencia a aciclovir / Bilateral acute retinal necrosis due to herpes simplex virus in inmunocompetent people and acyclovir resistance

Caso clínico: Mujer sana de 28 años con retinitis necrotizante bilateral y aislamiento de virus herpes simple tipo 1 en humor acuoso mediante reacción cadenas polimerasa (PCR). Se establece tratamiento con Aciclovir y corticoides intravenosos, sin obtener respuesta adecuada, se añade Foscarnet logrando la quiescencia de las lesiones. Discusión: El síndrome de necrosis retiniana aguda (SNRA) inducido por virus herpes, afecta tanto a inmunocompetentes como inmunodeprimidos. La clínica característica consta de uveítis con vitritis, focos de retinitis blanquecinos y vasculitis oclusiva. La terapia antiviral con aciclovir y antiinflamatorios debe instaurarse rápidamente. La terapia con Foscarnet puede ser efectiva en SNRA en pacientes inmunocompetentes. A pesar del tratamiento desemboca en una potencial ceguera (AU)

[Corneal descompensation in patients with endothelial compromise treated with topical dorzolamide]. / Descompensación corneal en pacientes con compromiso endotelial tratados con dorzolamida tópica.

PURPOSE: To investigate the possibility of corneal alterations in patients with long-term endothelial compromise with topical dorzolamide. MATERIAL AND METHODS: Retrospective descriptive study of 17 patients with penetrating keratoplasty and glaucoma associated with topical carbonic anhydrase inhibitor therapy, looking for coincidence with corneal alteration. RESULTS: Classified by ethiology, type of glaucoma and control, recording previous ophthalmological surgeries, evolution time, complications and rejection episodes. Seven patients suffered a corneal decompensation, in three of them there were signs of true reject but only four cases had edema at the beginning of dorzolamide treatment, one of them recovering after stopping dorzolamide. Risk factors were previous cataract surgery, mainly aphakia, filtering surgery and previous vitrectomy. CONCLUSIONS: Dorzolamide could have a potential negative effect on patients with endothelial compromise.