Linfoma anaplásico de células grandes primario cutáneo del canto medio palpebral / Primary cutaneous anaplasic large-cell lymphoma involving medial canthus of the eyelid

El linfoma anaplásico de células grandes primario cutáneo (LACGc) forma parte del espectro de la enfermedad linfoproliferativa cutánea CD30+. Su afectación palpebral es muy rara, y en todos los casos descritos en la literatura afecta al párpado superior. En el presente caso clínico se describe un LACGc palpebral de localización atípica. Una mujer de 39 años sin antecedentes de interés presentó una lesión de crecimiento rápido en canto medio palpebral de aspecto inflamatorio-infeccioso. Tras una semana de antibioterapia oral sin respuesta, se realizó una biopsia excisional. Con análisis anatomopatológico compatible y estudio de extensión negativo, se catalogó como LACGc. Tras 2 años de seguimiento la paciente no ha presentado recidiva de la enfermedad. La afectación de los párpados por un LACGc es poco frecuente y potencialmente grave. Por ello, es necesario ampliar la información sobre el diagnóstico, tratamiento y curso de esta enfermedad

Cutaneous anaplastic large-cell lymphoma (cALCL) is a condition within CD30 lymphoid proliferations spectrum. Involving the eyelid is unusual and all cases found in the literature are located in the upper eyelid. In this case we report an cALCL atypical presentation. A 39 year-old woman with no significant medical history, presents a fast-growing mass in the medial canthus, with inflamatory-infectious appearance. After a week with antibiotics with no response, an excisional biopsy was practiced. The hystopathology analysis with a negative systemic work up confirmed the diagnosis of a cALCL. After two-year follow up, patient is asymptomatic. cALCL involving the eyelid are rare but potentially life-threatening disorders, so more information about diagnosis, treatment and follow up is needed

Primary cutaneous anaplasic large-cell lymphoma involving medial canthus of the eyelid. / Linfoma anaplásico de células grandes primario cutáneo del canto medio palpebral.

Cutaneous anaplastic large-cell lymphoma (cALCL) is a condition within CD30 lymphoid proliferations spectrum. Involving the eyelid is unusual and all cases found in the literature are located in the upper eyelid. In this case we report an cALCL atypical presentation. A 39 year-old woman with no significant medical history, presents a fast-growing mass in the medial canthus, with inflamatory-infectious appearance. After a week with antibiotics with no response, an excisional biopsy was practiced. The hystopathology analysis with a negative systemic work up confirmed the diagnosis of a cALCL. After two-year follow up, patient is asymptomatic. cALCL involving the eyelid are rare but potentially life-threatening disorders, so more information about diagnosis, treatment and follow up is needed.

Metástasis palpebral como primera manifestación de un tumor renal / Eyelid metastasis as first presentation of renal cell carcinoma

Caso clínico: Un varón de 87 años desarrolló en el párpado superior un nódulo de crecimiento lento, no doloroso y bien definido. El tumor de 1 cm de diámetro estaba pigmentado y adherido a planos profundos. El estudio anatomopatológico fue compatible con un carcinoma de células renales. El estudio de extensión mostró una masa tumoral en cada riñón y múltiples metástasis pulmonares. Conclusión: El oftalmólogo puede jugar un papel importante en el diagnóstico del cáncer metastásico, cuando la enfermedad ocular está presente. Por tanto, cabe destacar la relevancia de realizar una biopsia en aquellas lesiones sospechosas y/o recurrentes del párpado (AU)

Case report: An 87-year-old male presented with a slow-growing, painless and well defined nodule in the upper eyelid. The tumour measured 1cm, and was pigmented and adhered to deep planes. The histopathology analysis was compatible with renal cell carcinoma. The extension study showed a tumour mass in each kidney, as well as multiple pulmonary metastases. Discussion: The ophthalmologist can play an important role in the diagnosis of metastatic cancer when eye disease is present. Therefore, the importance of a biopsy should be noted in those suspicious and/or recurrent lesions of the eyelid (AU)

Eyelid metastasis as first presentation of renal cell carcinoma. / Metástasis palpebral como primera manifestación de un tumor renal.

CASE REPORT: An 87-year-old male presented with a slow-growing, painless and well defined nodule in the upper eyelid. The tumour measured 1cm, and was pigmented and adhered to deep planes. The histopathology analysis was compatible with renal cell carcinoma. The extension study showed a tumour mass in each kidney, as well as multiple pulmonary metastases. DISCUSSION: The ophthalmologist can play an important role in the diagnosis of metastatic cancer when eye disease is present. Therefore, the importance of a biopsy should be noted in those suspicious and/or recurrent lesions of the eyelid.

Cambios en la morfología y la microdensidad neovascular corneal inducidos tras la administración tópica de bevacizumab y sunitinib en un modelo animal / Vascular morphological and microdensity changes of corneal neovascularization induced by topical bevacizumab and sunitinib in an animal model

Objetivo: Evaluar los efectos de la administración tópica de bevacizumab y sunitinib sobre la microdensidad vascular y la morfología de la neovascularización (NV) corneal. Método: Se distribuyeron 33 conejos en 3 grupos: grupo 1 (control; n = 11): suero salino; grupo 2 (n = 11): bevacizumab 5 mg/ml y grupo 3 (n = 11): sunitinib 0,5 mg/ml. Se realizó un modelo de NV corneal mediante suturas en el ojo derecho de cada conejo. Se administró cada tratamiento por vía tópica 3 veces al día durante 14 días. Posteriormente, se procesaron las córneas para el estudio de la microdensidad vascular (6 ojos) y el análisis de la morfología vascular (5 ojos) mediante técnicas histológicas de tinción enzimática. Resultados: La respuesta vascular del grupo 3 quedó limitada a unas pequeñas formaciones arborescentes con varios ejes vasculares en comparación con la extensa, frondosa y direccional NV corneal de los grupos 1 y 2. Las secciones histológicas próximas al limbo no mostraron diferencias en los estudios de microdensidad vascular entre los 3 grupos. No obstante, la media del área de sección de los vasos (MASV) del grupo 3 fue un 41,88% menor que la del grupo 1 y un 19,19% menor que la del grupo 2. En las secciones distales, no hubo diferencias entre los grupos 1 y 2. Sin embargo, el grupo 3 se caracterizó por la ausencia de neovasos. Conclusiones: Bevacizumab no produjo cambios en la morfología de los vasos ni en la microdensidad vascular. Sunitinib redujo el calibre de los neovasos e indujo cambios en el árbol vascular(AU)

Objective: To evaluate the effects of topical bevacizumab and topical sunitinib on vascular microdensity and morphology of corneal neovascularization (NV). Methods: A total of 33 rabbits were distributed into 3 groups: group 1 (control; n=11): saline; group 2 (n=11): bevacizumab 5 mg/ml; and group 3 (n=11): sunitinib 0.5 mg/ml. A corneal NV model was used, based on sutures in the right eye of each rabbit. Each treatment was administered topically 3 times daily for 14 days. Corneas were then processed for the study of vascular microdensity (6 eyes) and vascular morphology analysis (5 eyes) using enzymatic staining histological techniques. Results: The vascular response in group 3 was limited to small-sized tree formations with various vascular axes compared with the extensive, lush and directional corneal NV of group 1 and 2. In the histological sections near the limb, there were no differences in vascular microdensity studies between the three groups. However, the mean sectional area of vessels (MSAV) in group 3 was 41.88% lower than in group 1 and 19.19% lower than in group 2. In distal sections, there were no differences between groups 1 and 2. However, group 3 was characterized by absence of vessels. Conclusions: Bevacizumab produced no changes in the morphology of the vessels or the vascular microdensity. Sunitinib reduced the size of the new vessels and induced changes in the vascular tree (AU)

[Vascular morphological and microdensity changes of corneal neovascularization induced by topical bevacizumab and sunitinib in an animal model]. / Cambios en la morfología y la microdensidad neovascular corneal inducidos tras la administración tópica de bevacizumab y sunitinib en un modelo animal.

OBJECTIVE: To evaluate the effects of topical bevacizumab and topical sunitinib on vascular microdensity and morphology of corneal neovascularization (NV). METHODS: A total of 33 rabbits were distributed into 3 groups: group 1 (control; n=11): saline; group 2 (n=11): bevacizumab 5mg/ml; and group 3 (n=11): sunitinib 0.5mg/ml. A corneal NV model was used, based on sutures in the right eye of each rabbit. Each treatment was administered topically 3 times daily for 14 days. Corneas were then processed for the study of vascular microdensity (6 eyes) and vascular morphology analysis (5 eyes) using enzymatic staining histological techniques RESULTS: The vascular response in group 3 was limited to small-sized tree formations with various vascular axes compared with the extensive, lush and directional corneal NV of group 1 and 2. In the histological sections near the limb, there were no differences in vascular microdensity studies between the three groups. However, the mean sectional area of vessels (MSAV) in group 3 was 41.88% lower than in group 1 and 19.19% lower than in group 2. In distal sections, there were no differences between groups 1 and 2. However, group 3 was characterized by absence of vessels. CONCLUSIONS: Bevacizumab produced no changes in the morphology of the vessels or the vascular microdensity. Sunitinib reduced the size of the new vessels and induced changes in the vascular tree.

[Vitreous haemorrhage associated with persistent hyaloid artery]. / Hemorragia vítrea asociada a arteria hialoidea persistente.

INTRODUCTION: Haemorrhage from an entire persistent hyaloid artery (PHA) is an uncommon anomaly. CASE REPORT: A 52 year old female presented with blurred vision in her amblyopic eye. Biomicroscopy revealed a blood filled PHA which was inserted in the posterior crystalloid. Ophthalmoscopy showed a mild vitreous haemorrhage. A tubular structure showing a hypo-reflexivity inside the PHA was able to be analysed using optical coherence tomography (OCT). However, Doppler ultrasound did not detect the presence of active blood flow within it. CONCLUSIONS: The performance of non-invasive imaging tests such as the OCT and Doppler ultrasound may be useful in the study of vitreous haemorrhage associated with PHA.

Hemorragia vítrea asociada a arteria hialoidea persistente / Vitreous haemorrhage associated with persistent hyaloid artery

Introducción: La hemorragia vítrea secundaria a una arteria hialoidea persistente (AHP) íntegra es una anomalía infrecuente. Caso clínico: Una mujer de 52 años presentó disminución de visión en su ojo ambliope. La biomicroscopia reveló una AHP rellena de sangre que se insertaba en la cristaloides posterior. En la oftalmoscopia se objetivó un hemovítreo leve. La tomografía de coherencia óptica (TCO) permitió analizar la estructura tubular de la AHP mostrando un interior hiporreflectivo. Sin embargo, el eco-doppler no detectó la presencia de flujo sanguíneo activo en su interior. Conclusiones: La realización de pruebas de imagen no invasivas que incluyen la TCO y el eco-doppler pueden ser útiles en el estudio de una hemorragia asociada a una AHP(AU)

Introduction: Haemorrhage from an entire persistent hyaloid artery (PHA) is an uncommon anomaly. Case report: A 52 year old female presented with blurred vision in her amblyopic eye. Biomicroscopy revealed a blood filled PHA which was inserted in the posterior crystalloid. Ophthalmoscopy showed a mild vitreous haemorrhage. A tubular structure showing a hypo-reflexivity inside the PHA was able to be analysed using optical coherence tomography (OCT). However, Doppler ultrasound did not detect the presence of active blood flow within it. Conclusions: The performance of non-invasive imaging tests such as the OCT and Doppler ultrasound may be useful in the study of vitreous haemorrhage associated with PHA(AU)

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.

Glaucoma is an inherited complex and heterogeneous disease, and one of the most prevalent causes of definitive blindness in the world. Recent reports have indicated that heterozygous mutations of the CYTOCHOROME P4501B1 (CYP1B1) gene are present in 4-10% of patients with primary open-angle glaucoma (POAG). To further evaluate the role of CYP1B1 mutations in POAG we extended our previous association study and carried out a functional analysis of the mutations identified by polymerase chain reaction (PCR) DNA sequencing of the three exons of the gene in a total of 245 unrelated Spanish patients and 326 control subjects. Eight of nine different mutations identified in these patients were cloned and functionally assessed by measuring ethoxyresorufin O-deethylation activity and CYP1B1 stability in transiently transfected HEK-293T cells. All these mutants showed reduced catalytic activity, ranging from 20% to 60% of wild-type and/or decreased protein stability and, therefore, they were classified as hypomorphic alleles. No null alleles were identified in these patients. We found heterozygous hypomorphic CYP1B1 mutations in 17 (6.7%) patients and in seven controls (2.1%) showing that these mutations are associated with an increased risk of POAG (p = 0.005; odds ratio = 3.2; 95% confidence interval = 1.30-9.19). Our data suggest that hypomorphic CYP1B1 mutations are, to date, the main known genetic risk factor in POAG.

Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.

Primary congenital glaucoma (PCG), a rare, severe and blinding disease, usually results from mutations in the CYP1B1 gene located in chromosome 2p22.2. Uniparental isodisomy (UPID) is also a rare condition in which a diploid offspring carries two identical copies of a single parental chromosome. By DNA sequence analysis, we found that a proband (female newborn) affected by PCG was homozygous for the null-allele F261L of the CYP1B1 gene. Her father was a heterozygous carrier for this mutation, and unexpectedly her mother carried only the G168D mutation in the heterozygous state. Segregation analysis of eight microsatellite markers which spanned the two arms of chromosome 2 was consistent with paternal isodisomy for this chromosome in the proband. To the best of our knowledge, this is the first reported case of UPID resulting in PCG and the fifth reported case of paternal UPID for chromosome 2. In addition, the absence of a clinical phenotype other than PCG confirms previous observations of there being no paternally imprinted genes in chromosome 2 that have major phenotypic effects. These results, along with previous reports, also suggest that UPID may play a relevant role in recessive diseases linked to chromosome 2.

Trabeculotomía-trabeculectomía combinada como tratamiento quirúrgico inicial del glaucoma congénito primario / Combined trabeculotomy-trabeculectomy as the initial surgical procedure of primary developmental glaucoma

Objetivo: Valorar los resultados quirúrgicos a largo plazo de la trabeculotomía-trabeculectomía combinada (TTC) como tratamiento preferente del glaucoma congénito primario. Métodos: Se seleccionaron 22 ojos de 14 pacientes consecutivos con glaucoma congénito primario en los que se empleó la TTC como procedimiento inicial entre 1981 y 2005. Se introdujo en una base de datos la información relacionada con la historia familiar, edad de inicio del glaucoma, síntomas y signos, integridad corneal, presión intraocular (PIO), gonioscopia, cirugía, complicaciones postoperatorias, agudeza visual, defecto de refracción, microscopia endotelial, longitud axial, campos visuales y estado final de la papila. El resultado de la presión intraocular fue evaluado usando el análisis de supervivencia Kaplan-Meier. Resultados: Las probabilidades acumuladas de éxito después de realizar una TTC como procedimiento inicial fueron del 95,5% a los 12 meses y del 78,2% a los 24 meses, manteniéndose esta proporción durante 15 años de seguimiento. Cuatro ojos (18,1%) requirieron más de un procedimiento debido a una PIO elevada persistente. Las complicaciones postoperatorias fueron raras. Al final del seguimiento, de 12 ojos de 8 pacientes cooperadores, la mejor agudeza visual corregida fue igual o mayor de 0,5 en el 75% (9 ojos). Conclusiones: La TTC como cirugía primaria ofrece una alta eficacia a largo plazo en el control de la PIO sin tratamiento farmacológico, mostrando mínimas complicaciones quirúrgicas y una baja incidencia de reintervenciones

Purpose: To evaluate the long-term outcome of trabeculotomy-trabeculectomy as the primary surgical treatment for primary congenital glaucoma. Methods: Twenty-two eyes of 14 consecutive patients with primary congenital glaucoma who underwent combined trabeculotomy-trabeculectomy as the initial procedure between 1981 and 2005 were selected for review. Records of ocular family history, age at onset of glaucoma, symptoms and signs, corneal integrity, intraocular pressure (IOP), gonioscopy, surgery, postoperative complications, visual acuity, refractive error, endothelial microscopy, axial length, visual fields and final status of the optic nerve head were entered into a computer database. The outcome, in terms of IOP obtained, was evaluated using Kaplan-Meier survival analysis. Results: Cumulative probabilities of success, after performing combined trabeculotomy-trabeculectomy as the initial operative procedure, were 95.5% after 12 months and 78.2% after 24 months, with this rate being maintained during 15 years of follow-up. Four eyes (18.1%) required more than one operative procedure because of persistent raised IOP. Postoperative complications were rare. At the time of the last follow-up, of 12 eyes from 8 co-operative patients, the final best spectacle-corrected visual acuity was 0.5 (20/40) or better, in 75% (9 eyes). Conclusion: Combined trabeculotomy-trabeculectomy as the primary surgical procedure offers long-term high efficacy in the control of IOP without medical treatment, is rarely associated with surgical complications, and a low need for re-operations (Arch Soc Esp Oftalmol 2008; 83: 479-486)

[Combined trabeculotomy-trabeculectomy as the initial surgical procedure of primary developmental glaucoma]. / Trabeculotomía-trabeculectomía combinada como tratamiento quirúrgico inicial del glaucoma congénito primario.

PURPOSE: To evaluate the long-term outcome of trabeculotomy-trabeculectomy as the primary surgical treatment for primary congenital glaucoma. METHODS: Twenty-two eyes of 14 consecutive patients with primary congenital glaucoma who underwent combined trabeculotomy-trabeculectomy as the initial procedure between 1981 and 2005 were selected for review. Records of ocular family history, age at onset of glaucoma, symptoms and signs, corneal integrity, intraocular pressure (IOP), gonioscopy, surgery, postoperative complications, visual acuity, refractive error, endothelial microscopy, axial length, visual fields and final status of the optic nerve head were entered into a computer database. The outcome, in terms of IOP obtained, was evaluated using Kaplan-Meier survival analysis. RESULTS: Cumulative probabilities of success, after performing combined trabeculotomy-trabeculectomy as the initial operative procedure, were 95.5% after 12 months and 78.2% after 24 months, with this rate being maintained during 15 years of follow-up. Four eyes (18.1%) required more than one operative procedure because of persistent raised IOP. Postoperative complications were rare. At the time of the last follow-up, of 12 eyes from 8 co-operative patients, the final best spectacle-corrected visual acuity was 0.5 (20/40) or better, in 75% (9 eyes). CONCLUSION: Combined trabeculotomy-trabeculectomy as the primary surgical procedure offers long-term high efficacy in the control of IOP without medical treatment, is rarely associated with surgical complications, and a low need for re-operations

[Orbital penetrating wound by a bull horn]. / Herida penetrante orbitaria por asta de toro.

INTRODUCTION: Bull horn injuries are severe lesions with a high risk of bacterial contamination, and are common in countries where people are fond of bullfighting and related spectacles. CASE REPORT: A 19-year-old man was referred with a penetrating wound in the superior left eyelid produced by a bull horn and resulting in a fracture of the orbital roof and a fat hernia. Prophylactic antibiotics and tetanus toxoid were administered and surgical reconstruction of the wound performed. Orbital cellulitis did develop, but this responded to systemic antibiotic therapy within a few days. DISCUSSION: Successful treatment of this type of lesion requires early diagnosis, meticulous surgical exploration and appropriate use of prophylactic antibiotics and tetanus toxoid.

Herida penetrante orbitaria por asta de toro / Orbital penetrating wound by a bull horn

Introducción: Las heridas por asta de toro, comunes en países con afición al toreo y festejos relacionados, representan lesiones graves con un elevado grado de contaminación. Caso clínico: Varón de 19 años que sufrió traumatismo por asta de toro con herida penetrante en párpado superior izquierdo acompañada de fractura del techo de la órbita y hernia grasa. Se indicó profilaxis antibiótica y antitetánica y se reconstruyó quirúrgicamente la herida. Posteriormente, desarrolló una celulitis orbitaria, que evolucionó satisfactoriamente con tratamiento sistémico en unos pocos días. Discusión: El éxito del tratamiento en este tipo de heridas se fundamenta en una exploración meticulosa, diagnóstico temprano, manejo quirúrgico precoz y profilaxis antibiótica y antitetánica

Introduction: Bull horn injuries are severe lesions with a high risk of bacterial contamination, and are common in countries where people are fond of bullfighting and related spectacles. Case report: A 19-year-old man was referred with a penetrating wound in the superior left eyelid produced by a bull horn and resulting in a fracture of the orbital roof and a fat hernia. Prophylactic antibiotics and tetanus toxoid were administered and surgical reconstruction of the wound performed. Orbital cellulitis did develop, but this responded to systemic antibiotic therapy within a few days. Discussion: Successful treatment of this type of lesion requires early diagnosis, meticulous surgical exploration and appropriate use of prophylactic antibiotics and tetanus toxoid

Actinomyces neuii subspecies anitratus chronic endophthalmitis after cataract surgery.

PURPOSE: To report a case of unusual chronic endophthalmitis by Actinomyces neuii subspecies anitratus. METHODS: A 75-year-old man underwent uneventful phacoemulsification with implantation of a foldable posterior chamber intraocular lens in his right eye. Four weeks after surgery, a chronic post-operative endophthalmitis characterized by anterior chamber and vitreous cellular debris developed in this eye. Cultures were positive, and A neuii subspecies anitratus was identified by polymerase chain reaction and subsequent rRNA sequence analysis. Immediate treatment included intravitreal and intensive topical antibiotics along with oral ciprofloxacin. RESULTS: The condition improved rapidly, and 6 months after surgery the patient was asymptomatic, the best spectacle-corrected visual acuity was 20/22, and the anterior chamber was quiet. CONCLUSIONS: A neuii subspecies anitratus should be considered in the differential diagnosis of chronic endophthalmitis after cataract surgery. Polymerase chain reaction and subsequent RNA typing were useful in detecting the causative organism, and intravitreal antibiotics were successful.

[An orbital metastasis as the presentation of lung adenocarcinoma]. / Metástasis orbitaria como primera manifestación de adenocarcinoma pulmonar.

INTRODUCTION: Metastasis of primary tumours can involve the orbit via the blood stream. In 19% of cases this type of metastasis is the first oncologic symptom. CASE REPORT: A 42-year-old woman with a hard, well-defined nodule situated anteriorly in the right orbit and with mild associated inflammation. MR showed an oval image with homogeneous gadolinium uptake. On excision-biopsy a ductal cancer was found and determined on CAT scan to be of pulmonary origin. Chemotherapy was given and no recurrence occurred in the orbit. CONCLUSION: Ophthalmologic examination was the first step in the diagnosis of a metastasis of adenocarcinoma of the lung.

Metástasis orbitaria como primera manifestación de adenocarcinoma pulmonar / An orbital metastasis as the presentation of lung adenocarcinoma

Introducción: Las metástasis de tumores primitivos invaden la órbita generalmente por vía hemática y en el 19% de los casos representan la primera manifestación de enfermedad neoplásica.Caso Clínico: Mujer de 42 años con un nódulo de crecimiento rápido en región orbitaria anterior derecha, de consistencia pétrea, bien delimitado y asociado a leves signos inflamatorios. En la resonancia magnética se observó una imagen ovoidea con captación homogénea de gadolinio. La exéresis-biopsia del tumor mostró un carcinoma ductal y el estudio sistémico evidenció su origen pulmonar. Se inició tratamiento quimioterápico sin objetivarse en estudios posteriores de imagen signos de recidiva orbitaria.Discusión: La exploración oftalmológica ha constituido el inicio del proceso diagnóstico de un adenocarcinoma pulmonar diseminado

Introduction: Metastasis of primary tumours can involve the orbit via the blood stream. In 19% of cases this type of metastasis is the first oncologic symptom. Case report: A 42-year-old woman with a hard, well-defined nodule situated anteriorly in the right orbit and with mild associated inflammation. MR showed an oval image with homogeneous gadolinium uptake. On excision-biopsy a ductal cancer was found and determined on CAT scan to be of pulmonary origin. Chemotherapy was given and no recurrence occurred in the orbit. Conclusion: Ophthalmologic examination was the first step in the diagnosis of a metastasis of adenocarcinoma of the lung