Doble recubrimiento con membrana amniótica en estrabismo restrictivo / Double covering with amniotic membrane in restrictive strabismus

El manejo del estrabismo restrictivo sigue siendo un problema no resuelto hoy en día.Se presenta un caso de estrabismo restrictivo posquirúrgico severo tras una cirugía de exotropía consecutiva. Describimos a continuación el manejo exitoso mediante una técnica que consiste en envolver el músculo afectado con membrana amniótica o «wrap» en la que añadimos un segundo injerto de membrana amniótica en la reconstrucción de la superficie ocular. (AU)

The management of restrictive strabismus remains an unresolved problem today.A case of severe restrictive strabismus after a consecutive exotropia surgery is presented. We describe the exitosus managment through a technique consist of wrapping with amniotic membrane the affected muscle where we add a second amniotic membraneA graft in the reconstruction of the ocular surface. (AU)

Double covering with amniotic membrane in restrictive strabismus.

A case of severe restrictive strabismus after a consecutive exotropia surgery is presented. We describe the exitous managment through a technique consist of wrapping with amniotic membrane (AM) the affected muscle where we add a second AM graft in the reconstruction of the ocular Surface.

Diagnóstico de un caso de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X mediante electrorretinografía y secuenciación del gen CACNA1F / Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F sequencing

Un varón de 4 años, sin antecedentes relevantes, consulta por disminución de agudeza visual bilateral, más acusada en condiciones escotópicas, que no mejora con corrección óptica. No se aprecian alteraciones fundoscópicas significativas, por lo que se sospecha una distrofia retiniana. La secuenciación del gen CACNA1F detecta la mutación c.3081C > A (p.Tyr1027Ter), que se ha producido de novo en la madre del paciente. Esta mutación, en el contexto clínico referido y con un patrón electronegativo compatible, establece el diagnóstico de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X. La electrofisiología y el estudio genético deben formar parte del protocolo diagnóstico de cualquier pérdida de visión inexplicada en niños. La descripción, la nomenclatura y la clasificación de las distrofias retinianas hereditarias con base en sus características genotípicas y electrorretinográficas evita los errores diagnósticos derivados de su habitual superposición clínica y fenotípica

A 4-year-old boy, with no history of relevance, presented with bilateral visual impairment, more so in scotopic conditions, and did not improve with optical correction. No significant funduscopic abnormalities were seen, leading to a suspicion of retinal dystrophy. Sequencing of the CACNA1F gene detected the c.3081C > A (p.Tyr1027Ter) mutation, which had occurred de novo in the patient's mother. This mutation, in the aforementioned clinical context, and with a compatible electronegative pattern, establishes the diagnosis of X-linked type 2 congenital stationary night blindness. Electrophysiology and genetic testing should be part of the diagnostic protocol for any unexplained loss of vision in children. The description, nomenclature and classification of hereditary retinal dystrophies based on their genotypic and electroretinograpic characteristics, avoids diagnostic errors due to their usual clinical and phenotypic overlap

Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F sequencing. / Diagnóstico de un caso de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X mediante electrorretinografía y secuenciación del gen CACNA1F.

A 4-year-old boy, with no history of relevance, presented with bilateral visual impairment, more so in scotopic conditions, and did not improve with optical correction. No significant funduscopic abnormalities were seen, leading to a suspicion of retinal dystrophy. Sequencing of the CACNA1F gene detected the c.3081C>A (p.Tyr1027Ter) mutation, which had occurred de novo in the patient's mother. This mutation, in the aforementioned clinical context, and with a compatible electronegative pattern, establishes the diagnosis of X-linked type 2 congenital stationary night blindness. Electrophysiology and genetic testing should be part of the diagnostic protocol for any unexplained loss of vision in children. The description, nomenclature and classification of hereditary retinal dystrophies based on their genotypic and electroretinograpic characteristics, avoids diagnostic errors due to their usual clinical and phenotypic overlap.

Tuberculosis miliar y tuberculoma coroideo en una niña de 3 meses: diagnóstico y seguimiento de un caso / Miliary tuberculosis and choroidal tuberculoma in a three-month old baby girl: Diagnosis and follow-up of a case

Se presenta a una niña de 3 meses de edad con un cuadro febril sin foco y con empeoramiento. La exploración fundoscópica mostró una lesión coroidea en el ojo izquierdo junto con lesiones en otros órganos sugestivas de tuberculosis diseminada. La evolución fue favorable tras tratamiento con cuádruple terapia antibiótica asociada a corticoterapia. La tuberculosis diseminada debe tenerse en cuenta ante un cuadro febril de tórpida evolución. La exploración oftalmológica de estos pacientes es fundamental, ya que, aunque es poco frecuente, los signos característicos de las uveítis posteriores nos orientarán hacia el diagnóstico y tratamiento precoz de esta enfermedad

A three-month old baby girl presented with fever of unknown origin and with signs of worsening of this episode. Funduscopy showed a solitary choroidal lesion in her left eye, as well as extraocular lesions suggesting disseminated tuberculosis. A favourable outcome was achieved after quadruple antibiotic course and cortisone therapy. Disseminated tuberculosis should be considered in cases of fever of unknown origin in children with an unsatisfactory evolution. Ocular examination is mandatory, due to the possible posterior uveitis signs that can help with early diagnosis and treatment of some diseases

Miliary tuberculosis and choroidal tuberculoma in a three-month old baby girl: Diagnosis and follow-up of a case. / Tuberculosis miliar y tuberculoma coroideo en una niña de 3 meses: diagnóstico y seguimiento de un caso.

A three-month old baby girl presented with fever of unknown origin and with signs of worsening of this episode. Funduscopy showed a solitary choroidal lesion in her left eye, as well as extraocular lesions suggesting disseminated tuberculosis. A favourable outcome was achieved after quadruple antibiotic course and cortisone therapy. Disseminated tuberculosis should be considered in cases of fever of unknown origin in children with an unsatisfactory evolution. Ocular examination is mandatory, due to the possible posterior uveitis signs that can help with early diagnosis and treatment of some diseases.

Imiquimod 5% tópico como terapia alternativa en carcinoma basocelular periocular en 2 pacientes con contraindicación quirúrgica / Topical imiquimod 5% as an alternative therapy in periocular basal cell carcinoma in two patients with surgical contraindication

CASO CLÍNICOS: Presentamos los casos de dos pacientes con carcinoma basocelular periocular palpebral, que recibieron imiquimod tópico al 5%, con buena respuesta. Ambos presentaban un estado funcional que desaconsejaba el tratamiento quirúrgico. CONCLUSIÓN: La crema de imiquimod al 5% ha demostrado ser una alternativa eficaz al tratamiento quirúrgico de tumores basocelulares perioculares, especialmente en aquellos casos en los que la cirugía no es posible

CLINICAL CASE: The cases are presented of two patients with periocular basal cell carcinoma of the eyelid who received topical imiquimod 5%, with a good response. Both had a functional state that contraindicated surgical treatment. CONCLUSION: Imiquimod cream 5% was shown to be an effective alternative to surgical treatment of periocular basal cell carcinoma, especially in those cases where surgery is not possible

Síndrome oculoglandular de Parinaud: a propósito de un caso / Parinaud’s oculoglandular syndrome: a case report

CASO CLÍNICO: Una mujer de 33 años consulta por conjuntivitis granulomatosa unilateral, adenopatías regionales homolaterales y fiebre. Se demuestra una infección por Bartonella henselae mediante inmunofluorescencia indirecta y se establece el diagnóstico de síndrome oculoglandular de Parinaud. La evolución después de tratamiento con doxiciclina oral es satisfactoria. Discusión: El síndrome oculoglandular de Parinaud es la manifestación ocular más frecuente de una infección por Bartonella henselae

CLINICAL CASE: 33-year old woman presents with unilateral granulomatous conjunctivitis, ipsilateral regional lymphadenopathy and fever. A Bartonella henselae infection is demonstrated by indirect immunofluorescence, and a diagnosis of a Parinaud’s oculoglandular syndrome is established. Outcome after treatment with oral doxycycline is satisfactory. Discussion: Parinaud’s oculoglandular syndrome is the most frequent ocular manifestation of a Bartonella henselae infection

Topical imiquimod 5% as an alternative therapy in periocular basal cell carcinoma in two patients with surgical contraindication. / Imiquimod 5% tópico como terapia alternativa en carcinoma basocelular periocular en 2 pacientes con contraindicación quirúrgica.

CLINICAL CASES: The cases are presented of two patients with periocular basal cell carcinoma of the eyelid who received topical imiquimod 5%, with a good response. Both had a functional state that contraindicated surgical treatment. CONCLUSION: Imiquimod cream 5% was shown to be an effective alternative to surgical treatment of periocular basal cell carcinoma, especially in those cases where surgery is not possible.

Parinaud's oculoglandular syndrome: A case report. / Síndrome oculoglandular de Parinaud: a propósito de un caso.

CLINICAL CASE: A 33-year old woman presents with unilateral granulomatous conjunctivitis, ipsilateral regional lymphadenopathy and fever. A Bartonella henselae infection is demonstrated by indirect immunofluorescence, and a diagnosis of a Parinaud's oculoglandular syndrome is established. Outcome after treatment with oral doxycycline is satisfactory. DISCUSSION: Parinaud's oculoglandular syndrome is the most frequent ocular manifestation of a Bartonella henselae infection.

Sarcoma mieloide orbitario en el adulto: a propósito de un caso / Orbital meyeloid sacoma in the adult: report of a case

Caso clínico. Varón de 50 años con antecedentes de leucemia mieloide aguda atendido por una masa orbitaria izquierda. Los estudios histológicos del tumor biopsiado revelan un sarcoma mieloide. Tras tratamiento radioterápico y quimioterapia, el paciente permanece estable. Conclusiones. El sarcoma mieloide orbitario es un tumor raro en el paciente adulto, pero que debido a sus implicaciones sistémicas, ha de tenerse en cuenta en el diagnóstico de una masa orbitaria, en especial en pacientes hematológicos (AU)

Clinical case: 50 years old male patient with history of acute myeloid leukemia who is assisted because of a mass in his left orbit. Histological studies of the biopsied tumor reveal a myeloid sarcoma. After radiotherapy and chemotherapy, the patient remains stable. Conclusions. Orbital myeloid sarcoma is a rare tumor among adult patients, but because of its systemic implications, it should be considered in the diagnosis of an orbital mass, specially in the case of hematological patients (AU)

Metástasis coroidea de carcinoma renal / Choroidal metastasis from renal cell carcinoma

Caso clínico: Hombre de 52 años que acudió a urgencias por disminución progresiva de su visión en el ojo derecho. Como antecedentes había tenido nefrectomía derecha por carcinoma renal 7 años antes y neumonectomía derecha por metástasis 3 meses antes. En la funduscopia se observaba una masa coroidea en ojo derecho, compatible con metástasis. Se realizó enucleación. Durante un año permaneció sin progresión pero en los últimos seis meses ya ha aparecido. Discusión: Las metástasis coroideas de carcinoma renal son infrecuentes y pueden ocurrir varios años después de la curación del primario. Su sintomatología es variable y su aspecto poco característico por lo que puede dificultar su diagnóstico diferencial(AU)

Case report: A fifty-two year-old man who came to our emergency room because of gradual loss of vision in his right eye. He had suffered right nefrectomy for renal cell carcinoma seven years previously and pneumectomy for metastasis in his right lung three months ago. In the fundus examination a choroidal mass was found in his right eye, suggesting metastasis. Treatment was enucleation of the affected eye. During the first year there was no progression, but in the last six months it has re-appeared. Discussion: Choroidal metastasis of renal cell carcinoma is rare and can appear years after treating the primary tumour. Its symptoms are variable, and its shape is not very characteristic so it can be difficult to make a differential diagnosis(AU)

[Orbit xanthogranulomatosis. Erdheim-Chester disease]. / Xantogranulomatosis orbitaria. Enfermedad de Erdheim-Chester.

CASE REPORT: A patient was studied because of upper lid bilateral edema and xanthelasmae-like lesions after three years of evolution. During the ophthalmologic examination orange-yellowish lesions and two symmetrical tumours were observed on the temporal part of both upper lids. Corticoid-therapy was undertaken which reduced the size of the tumours, however the size increased again after the discontinuation of treatment. A biopsy was performed and lid xanthogranulomatosis was diagnosed. Other systemic examinations were normal. DISCUSSION: Erdheim-Chester disease is a xanthogranulomatosis that can affect ocular and periorbital structures. Combination of xanthelasmae-like lesions and bilateral orbital masses should make us consider this process and try to locate any associated systemic conditions.

Xantogranulomatosis orbitaria: Enfermedad de Erdheim-Chester / Orbit xanthogranulomatosis. Erdheim-Chester disease

Caso clínico: Paciente con edema bilateral de párpados superiores y lesiones similares a xantelasmas de tres años de evolución. La exploración oftalmológica mostraba dos tumoraciones temporales simétricas en ambos párpados superiores con lesiones naranjo-amarillentas. Se pautaron corticoides que hicieron disminuir el tamaño de las tumoraciones, con recidiva de los mismos al suspender dicha medicación. La biopsia reveló una xantogranulomatosis palpebral. El resto de las exploraciones sistémicas fueron normales. Discusión: La enfermedad de Erdheim-Chester es una xantogranulomatosis que puede afectar a las estructuras oculares y periorbitarias. La combinación de lesiones similares a xantelasmas y masas orbitarias bilaterales deben hacernos pensar en este proceso y buscar la posible afectación sistémica(AU)

Case report: A patient was studied because of upper lid bilateral edema and xanthelasmae-like lesions after three years of evolution. During the ophthalmologic examination orange-yellowish lesions and two symmetrical tumours were observed on the temporal part of both upper lids. Corticoid-therapy was undertaken which reduced the size of the tumours, however the size increased again after the discontinuation of treatment. A biopsy was performed and lid xanthogranulomatosis was diagnosed. Other systemic examinations were normal. Discussion: Erdheim-Chester disease is a xanthogranulomatosis that can affect ocular and periorbital structures. Combination of xanthelasmae-like lesions and bilateral orbital masses should make us consider this process and try to locate any associated systemic conditions(AU)

[Choroidal metastasis from renal cell carcinoma]. / Metástasis coroidea de carcinoma renal.

CASE REPORT: A fifty-two year-old man who came to our emergency room because of gradual loss of vision in his right eye. He had suffered right nefrectomy for renal cell carcinoma seven years previously and pneumectomy for metastasis in his right lung three months ago. In the fundus examination a choroidal mass was found in his right eye, suggesting metastasis. Treatment was enucleation of the affected eye. During the first year there was no progression, but in the last six months it has re-appeared. DISCUSSION: Choroidal metastasis of renal cell carcinoma is rare and can appear years after treating the primary tumour. Its symptoms are variable, and its shape is not very characteristic so it can be difficult to make a differential diagnosis.