Variante genética del síndrome de Stickler / Genetic variant of Stickler's syndrome

Casos clínicos: Se remiten para estudio tres pacientes miopes de una misma familia por presentar vítreo degradado de manera severa, membranas ecuatoriales, hiperplasia del epitelio pigmentario de la retina, envainamiento vascular y esclerosis de predominio periférico. Se solicita estudio genético que confirma el diagnóstico de síndrome de Stickler con una variante en la mutación del gen COL2A1. Discusión: El síndrome de Stickler se debe sospechar en familias que presenten un fenotipo característico con sinéresis vítrea y las referidas alteraciones en la retina, pudiendo existir en ocasiones variantes genéticas que no expresan en su totalidad el fenotipo clásico (AU)

Cases reports: Three myopic components of a same family came for study because presented severely degraded vitreous, equatorial membranes, retinal pigment epithelium hyperplasia, vascular sheathed and sclerosis of peripheral predominance. A genetic study confirmed the diagnosis of Stickler syndrome with a variant in the mutation of the COL2A1 gene. Discussion: Stickler's syndrome should be suspected in families with a characteristic phenotype with vitreous syneresis and alterations in the retina, but there may be genetic variants that do not express the classic phenotype (AU)

Genetic variant of Stickler's syndrome. / Variante genética del síndrome de Stickler.

CASES REPORTS: Three myopic components of a same family came for study because presented severely degraded vitreous, equatorial membranes, retinal pigment epithelium hyperplasia, vascular sheathed and sclerosis of peripheral predominance. A genetic study confirmed the diagnosis of Stickler syndrome with a variant in the mutation of the COL2A1 gene. DISCUSSION: Stickler's syndrome should be suspected in families with a characteristic phenotype with vitreous syneresis and alterations in the retina, but there may be genetic variants that do not express the classic phenotype.

Mácula en cúpula asociada a la retinocoroidosis miópica. Utilidad de la espironolactona / Dome shaped macula associated with myopic retinochoroidosis. Use of spironolactone

Casos clínicos: Se presentan los casos de 3 mujeres de 22, 36 y 55 años de edad con retinocoroidosis miópica bilateral. Las pacientes presentan disminución de agudeza visual unilateral, tonometría y biomicroscopia bilateral normal. En la funduscopia se evidencia maculopatía unilateral, y en la tomografía de coherencia óptica (OCT), mácula en cúpula con desprendimiento neurosensorial (DNS). Iniciado tratamiento con espironolactona, en todos los casos se comprueba mejoría por OCT. Discusión: Se discute el mecanismo etiopatogénico de la mácula en cúpula. La OCT se demuestra como técnica fundamental en el seguimiento de esta patología. Tras la evidencia mostrada, se postula tratamiento inicial con espironolactona (AU)

Cases reports: The cases are presented of three women of 22, 36 and 55 years old with bilateral myopic retinochoroidosis. They had unilateral decreased visual acuity, normal bilateral tonometry, and biomicroscopy. Funduscopy showed bilateral and unilateral myopic maculopathy, and Optical Coherence Tomography (OCT) showed a dome shaped macula with neurosensory detachment. Treatment was started with spironolactone and an improvement by OCT was shown in all cases. Discussion: The etiopathogenic mechanism of the dome shaped macula is discussed. OCT demonstrated to be the fundamental test in the follow-up of this condition. After the evidence shown, initial treatment with spironolactone is suggested (AU)

Edema macular en el postoperatorio de la cirugía no complicada de la catarata. Posible relación con el volumen de cefuroxima intracamerular / Macular oedema after uncomplicated cataract surgery. Possible relationship with the volume of intracameral cefuroxime

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Dome shaped macula associated with myopic retinochoroidosis. Use of spironolactone. / Mácula en cúpula asociada a la retinocoroidosis miópica. Utilidad de la espironolactona.

CASES REPORTS: The cases are presented of three women of 22, 36 and 55 years old with bilateral myopic retinochoroidosis. They had unilateral decreased visual acuity, normal bilateral tonometry, and biomicroscopy. Funduscopy showed bilateral and unilateral myopic maculopathy, and Optical Coherence Tomography (OCT) showed a dome shaped macula with neurosensory detachment. Treatment was started with spironolactone and an improvement by OCT was shown in all cases. DISCUSSION: The etiopathogenic mechanism of the dome shaped macula is discussed. OCT demonstrated to be the fundamental test in the follow-up of this condition. After the evidence shown, initial treatment with spironolactone is suggested.

Espironolactona, alternativa terapéutica en el tratamiento de la epiteliopatía difusa crónica / Spironolactone, a therapeutic alternative in the treatment of diffuse retinal pigment epitheliopathy

CASOS CLÍNICOS: Se presentan 2 casos clínicos de epiteliopatía difusa crónica (EDC) con respuesta favorable a espironolactona. En el primer paciente se visualizan regiones de desprendimiento neurosensorial (DNS), y en el segundo múltiples DNS, quistes intrarretinianos secundarios y desprendimiento del epitelio pigmentario de la retina. DISCUSIÓN: Tras el tratamiento con espironolactona, se observa mejoría de la agudeza visual y de las alteraciones estructurales en ambos pacientes (disminución del DNS y quistes intrarretinianos). Los fármacos antagonistas de los receptores de aldosterona usados para formas persistentes de coriorretinopatía central serosa (CRCS) tienen resultados alentadores, y podrían ser una alternativa terapéutica en la EDC

CASE REPORT: Two cases are presented of patients with chronic diffuse epitheliopathy (CDE) that showed a favourable response when treated with spironolactone. The first patient had regions of neurosensory detachment (DNS) and the second, multiple DNS, secondary intra-retinal cysts and retinal pigment epithelium detachment. DISCUSSION: After treatment with spironolactone, both patients showed a visual acuity improvement and structural changes (reduced neurosensory retinal detachment and cystoid degeneration). Aldosterone receptor agonists (ARA) used for persistent forms of chronic central serous chorioretinopathy show encouraging results and could represent a therapeutic alternative for CDE

Retinopatía solar bilateral. Autofluorescencia y tomografía de coherencia óptica / Bilateral solar retinopathy. Autofluorescence and optical coherence tomography

CASO CLÍNICO: Varón de 33 años, que refiere disminución de agudeza visual bilateral desde hace 5 años. No presenta antecedentes de interés. Militar de profesión y probable exposición ocular solar previa. Se aprecian en el fondo de ojo lesiones pigmentadas focales maculares, con alteración de la capa de los fotorreceptores a nivel foveal, evidenciada por tomografía de coherencia óptica (OCT) en varios sectores de la fóvea. DISCUSIÓN: La retinopatía solar está asociada a profesiones con exposición solar de riesgo. El diagnóstico está basado en la autofluorescencia y OCT macular que nos va a aportar datos fundamentales para establecer la causa

CASE REPORT: A 33-year-old man referred decreased bilateral visual acuity for five years, with no history of interest. Military profession and probably previous sun exposure. Focal pigmented lesions in the macular area of the fundus were observed, with impairment of the photoreceptor layer in the fovea, observed by optical coherence tomography (OCT), in various sectors of the fovea. DISCUSSION: Solar retinopathy is associated with professions at risk of sun exposure. The diagnosis is based on autofluorescence and macular OCT, that later will provide key data to establish the cause

Bilateral solar retinopathy. Autofluorescence and optical coherence tomography. / Retinopatía solar bilateral. Autofluorescencia y tomografía de coherencia óptica.

CASE REPORT: A 33-year-old man referred decreased bilateral visual acuity for five years, with no history of interest. Military profession and probably previous sun exposure. Focal pigmented lesions in the macular area of the fundus were observed, with impairment of the photoreceptor layer in the fovea, observed by optical coherence tomography (OCT), in various sectors of the fovea. DISCUSSION: Solar retinopathy is associated with professions at risk of sun exposure. The diagnosis is based on autofluorescence and macular OCT, that later will provide key data to establish the cause.

Spironolactone, a therapeutic alternative in the treatment of diffuse retinal pigment epitheliopathy. / Espironolactona, alternativa terapéutica en el tratamiento de la epiteliopatía difusa crónica.

CASE REPORT: Two cases are presented of patients with chronic diffuse epitheliopathy (CDE) that showed a favourable response when treated with spironolactone. The first patient had regions of neurosensory detachment (DNS) and the second, multiple DNS, secondary intra-retinal cysts and retinal pigment epithelium detachment. DISCUSSION: After treatment with spironolactone, both patients showed a visual acuity improvement and structural changes (reduced neurosensory retinal detachment and cystoid degeneration). Aldosterone receptor agonists (ARA) used for persistent forms of chronic central serous chorioretinopathy show encouraging results and could represent a therapeutic alternative for CDE.

Resultados coste-efectividad del implante de dexametasona en edema macular / A cost-effectiveness study of dexamethasone implants in macular edema

OBJETIVO: Analizar el beneficio coste-efectividad del implante intravítreo de dexametasona (Ozurdex®, Allergan, Irvine, CA, EE. UU.) en sus aplicaciones clínicamente relevantes. MATERIAL Y MÉTODOS: Un total de 88 ojos de 86 pacientes con edema macular de > 300 μm medido mediante tomografía de coherencia óptica (Zeiss Cirrus, Dublín, CA, EE. UU.) fueron incluidos en este trabajo retrospectivo de 2 años, con un seguimiento mínimo de 6 meses. Se incluyeron 3 grupos de pacientes: el grupo 1 con edema macular en oclusión venosa retiniana, el grupo 2 con uveítis posterior no infecciosa y el grupo 3 con edema macular diabético, estando este fuera de indicación pero avalado por la literatura médica. Antes del implante y los días 1, 30, 60, 90 y 180 se evaluó la agudeza visual corregida (Snellen), espesor retiniano central, presión intraocular y biomicroscopia. Los análisis de coste-beneficio se tabularon por línea de visión ganada, comparando las principales alternativas terapéuticas, y se valoró el perfil de seguridad del implante intravítreo de dexametasona (Ozurdex®; Allergan, Irvine, CA, EE. UU.). RESULTADOS: Los resultados de este estudio no difirieron de los publicados por otros, en términos de mejoría de la agudeza visual en el 63,3% y del espesor macular central en el 97%. En los casos de recidiva, se produjo a los 120 días de media; la necesidad de retratamiento fue del 40,9%. Entre los efectos secundarios, el incremento de presión intraocular > 23 mm Hg se produjo en el 29,54%, controlándose con tratamiento tópico, excepto un 1,13% de los casos que requirieron tratamiento quirúrgico. El desarrollo de catarata fue del 44,7%, requiriendo cirugía un 10,6%. Los resultados del tratamiento mostraron una menor necesidad en la frecuencia del uso de Ozurdex® frente a otros tratamientos para el control de la enfermedad, convirtiéndose en una opción que permite el ahorro de costes. DISCUSIÓN: Los análisis coste-efectividad son clínicamente relevantes cuando se aplican estrategias terapéuticas en pacientes con edema macular. El implante de dexametasona intravítrea es una opción terapéutica segura y eficiente

OBJECTIVE: To analyze the cost-effectiveness and benefits of a dexamethasone intravitreal implant (Ozurdex®, Allergan, Irvine, CA, USA.) in its clinically relevant applications. MATERIAL AND METHODS: A total of 88 eyes of 86 patients with macular edema of > 300 μm measured by optical coherence tomography (Cirrus Zeiss, Dublin, CA, USA) were included in this two-year retrospective study, with a minimum of 6 months follow-up. The patients were divide into 3 groups: group 1 with macular edema in retinal vein occlusion, group 2 with non-infectious posterior uveitis, and group 3 with diabetic macular edema. The treatment was off-label but supported by the literature. Before implantation, and on days 1, 30, 60, 90 and 180, corrected visual acuity (Snellen), central retinal thickness, intraocular pressure and biomicroscopy were evaluated. The cost-benefit analysis was tabulated by line of visual acuity gained, comparing the main therapeutic alternatives and assessment of the safety profile of the dexamethasone intravitreal implant (Ozurdex®, Allergan, Irvine, CA, USA). RESULTS: The results of this study did not differ from the published studies, in terms of visual acuity improvement in 63.3% of cases, and with central macular thickness improvement in 97% of cases. There were relapses, which occurred after 120 days on average, and the need for retreatment was 40.9%. Increased intraocular pressure >23 mm Hg was among the side effects in 29.54%, and was controlled with topical treatment, except in 1.13% requiring surgical treatment. The development of cataract was 44.7%, and 10.6% required surgery. Treatment results showed less frequent use of Ozurdex® than other treatments for disease control, being a cost saving option. DISCUSSION: Cost-effectiveness analyses are clinically relevant when applying treatment strategies in patients with macular edema. Dexamethasone intravitreal implant appears to be a safe and efficient therapy

[A cost-effectiveness study of dexamethasone implants in macular edema]. / Resultados coste-efectividad del implante de dexametasona en edema macular.

OBJECTIVE: To analyze the cost-effectiveness and benefits of a dexamethasone intravitreal implant (Ozurdex®, Allergan, Irvine, CA, USA.) in its clinically relevant applications. MATERIAL AND METHODS: A total of 88 eyes of 86 patients with macular edema of > 300 µm measured by optical coherence tomography (Cirrus Zeiss, Dublin, CA, USA) were included in this two-year retrospective study, with a minimum of 6 months follow-up. The patients were divide into 3 groups: group 1 with macular edema in retinal vein occlusion, group 2 with non-infectious posterior uveitis, and group 3 with diabetic macular edema. The treatment was off-label but supported by the literature. Before implantation, and on days 1, 30, 60, 90 and 180, corrected visual acuity (Snellen), central retinal thickness, intraocular pressure and biomicroscopy were evaluated. The cost-benefit analysis was tabulated by line of visual acuity gained, comparing the main therapeutic alternatives and assessment of the safety profile of the dexamethasone intravitreal implant (Ozurdex®, Allergan, Irvine, CA, USA). RESULTS: The results of this study did not differ from the published studies, in terms of visual acuity improvement in 63.3% of cases, and with central macular thickness improvement in 97% of cases. There were relapses, which occurred after 120 days on average, and the need for retreatment was 40.9%. Increased intraocular pressure >23 mm Hg was among the side effects in 29.54%, and was controlled with topical treatment, except in 1.13% requiring surgical treatment. The development of cataract was 44.7%, and 10.6% required surgery. Treatment results showed less frequent use of Ozurdex® than other treatments for disease control, being a cost saving option. DISCUSSION: Cost-effectiveness analyses are clinically relevant when applying treatment strategies in patients with macular edema. Dexamethasone intravitreal implant appears to be a safe and efficient therapy.

Combinación de la anhidrasa carbónica tópica y sistémica en el tratamiento de la retinosquisis ligada al cromosoma X / A combination of topical and systemic carbonic anhydrase in the treatment of chromosome X-linked retinoschisis

CASO CLÍNICO: Varón de 17 años que desde el año 2000 refiere disminución progresiva de agudeza visual bilateral. Se observan en la retina máculas en patrón de «rueda de bicicleta». El electrorretinograma informa de disminución en la amplitud de la onda b. Los potenciales evocados visuales son normales. La tomografía de coherencia óptica muestra edema macular bilateral. Todo ello compatible con el diagnóstico de retinosquisis ligada al cromosoma X (RLX). DISCUSIÓN: Se realiza consejo genético y se explica el patrón de herencia ligada al X.Se instaura tratamiento con dorzolamida tópica y acetazolamida oral evidenciando una mejoría significativa del grosor macular

CASE REPORT: A 17 year-old male patient, who since 2000 has referred to a progressive bilateral decrease in visual acuity. A «bicycle wheel» macula pattern was observed in his retina. The electroretinogram showed a decrease in the b-wave amplitude. The visual evoked potentials were normal. Optical coherence tomography showed bilateral macular edema. All this supported the diagnosis of X-linked retinoschisis. DISCUSSION: Genetic counseling was given and the pattern of X-linked inheritance was explained. A significant improvement of the macular thickness was observed after treatment with topical dorzolamide and oral acetazolamide

A combination of topical and systemic carbonic anhydrase in the treatment of chromosome X-linked retinoschisis.

CASE REPORT: A 17 year-old male patient, who since 2000 has referred to a progressive bilateral decrease in visual acuity. A "bicycle wheel" macula pattern was observed in his retina. The electroretinogram showed a decrease in the b-wave amplitude. The visual evoked potentials were normal. Optical coherence tomography showed bilateral macular edema. All this supported the diagnosis of X-linked retinoschisis. DISCUSSION: Genetic counseling was given and the pattern of X-linked inheritance was explained. A significant improvement of the macular thickness was observed after treatment with topical dorzolamide and oral acetazolamide.

[A protocol for the treatment of retinopathy of prematurity in Spain]. / Protocolo de tratamiento de la retinopatía del prematuro en España.

OBJECTIVE: To prepare a protocol for the treatment of retinopathy of prematurity (ROP) agreed by the majority of Spanish ophthalmologists dedicated to this topic. MATERIAL AND METHOD: A draft of the protocol was produced taking into account the experience of the participants and up to date publications. This draft was corrected by all the ophthalmologists participating in the project, and the final document was agreed by all of them. RESULTS: We present general guidelines as an aid for the treatment of ROP, including treatment criteria, treatment methods, a calendar of action, and follow-up. CONCLUSIONS: It is important to have a common working protocol for the treatment of ROP to improve care and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain.

Protocolo de tratamiento de la retinopatía del prematuro en España / A protocol for the treatment of retinopathy of prematurity in Spain

Objetivo: Realizar un protocolo de tratamiento de la retinopatía del prematuro (ROP) consensuado por la mayor parte de oftalmólogos españoles dedicados al tema. Material y método: Se realizó un borrador del protocolo según la experiencia de los participantes y las publicaciones actualizadas. Este borrador fue corregido por los participantes en el protocolo y se llegó al documento final consensuado por todos los participantes. Resultados: Se presentan las directrices generales para realizar el tratamiento de la ROP, incluyendo criterios de tratamiento, metodología de actuación, calendario de actuación y seguimiento. Conclusiones: Es importante disponer de un protocolo de actuación común en el tratamiento de la ROP para mejorar la actuación y evitar errores. Aunque cada centro hospitalario deba adaptar el protocolo a su actividad clínica, es recomendable que existan un mínimo de procedimientos consensuados por todos los oftalmólogos dedicados a la ROP (AU)

Objective: To prepare a protocol for the treatment of retinopathy of prematurity (ROP) agreed by the majority of Spanish ophthalmologists dedicated to this topic. Material and method: A draft of the protocol was produced taking into account the experience of the participants and up to date publications. This draft was corrected by all the ophthalmologists participating in the project, and the final document was agreed by all of them. Results: We present general guidelines as an aid for the treatment of ROP, including treatment criteria, treatment methods, a calendar of action, and follow-up. Conclusions: It is important to have a common working protocol for the treatment of ROP to improve care and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain (AU)

Programa de cribado para la retinopatía del prematuro en España / Screening program for retinopathy of prematurity in Spain

Objetivo: Realizar un protocolo de cribado de la retinopatía del prematuro (ROP), consensuado por la mayor parte de oftalmólogos españoles dedicados al tema. Material y método: Se realizó un borrador del protocolo según la experiencia de los participantes y las publicaciones actualizadas. Este borrador fue corregido por los participantes en el protocolo y se llegó al documento final consensuado por todos los participantes. Resultados: Se presentan las directrices generales para realizar el cribado de la ROP, incluyendo criterios de inclusión y exclusión, metodología de exploración y calendario de actuación. Conclusiones: Es importante disponer de un protocolo de actuación común en el cribado de la ROP para mejorar la actuación y evitar errores. Aunque cada centro hospitalario deba adaptar el protocolo a su actividad clínica es recomendable que existan un mínimo de procedimientos consensuados por todos los oftalmólogos dedicados a la ROP (AU)

Objective: To prepare a retinopathy of prematurity (ROP) screening program as agreed by most of Spanish ophthalmologists dedicated to this topic. Material and method: A draft of the protocol was produced taking into account the experience of the participants and current publications. This draft was corrected by all the ophthalmologists participating in the project and the final document produced was agreed by all of them. Results: We present general guidelines to help in the screening of ROP, including treatment criteria, treatment methods, and a calendar of action. Conclusions: It is important to have a common working protocol in the screening of ROP to improve the action and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain (AU)

Screening program for retinopathy of prematurity in Spain.

OBJECTIVE: To prepare a retinopathy of prematurity (ROP) screening program as agreed by most of Spanish ophthalmologists dedicated to this topic. MATERIALS AND METHODS: A draft of the protocol was produced taking into account the experience of the participants and current publications. This draft was corrected by all the ophthalmologists participating in the project and the final document produced was agreed by all of them. RESULTS: We present general guidelines to help in the screening of ROP, including treatment criteria, treatment methods, and a calendar of action. CONCLUSIONS: It is important to have a common working protocol in the screening of ROP to improve the action and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain.