Abraham Zacuto Lusitano y el aura visual migrañosa / Abraham Zacuto Lusitano and migraine visual aura

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Reconstrucción palpebral multidisciplinar en el síndrome de Barber-Say: a propósito de un caso / Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report

El síndrome de Barber-Say es una infrecuente displasia producida por la mutación del gen TWIST2 (2q37.3) que codifica una proteína que actúa a nivel epigenético. Presentamos el caso de un niño de 2 días en el que el ectropion, el hipertelorismo, la hipertricosis y demás rasgos dismórficos condujeron al diagnóstico clínico de síndrome de Barber-Say, posteriormente confirmado genéticamente. Alrededor de 20 casos se han publicado sobre este síndrome; sin embargo, en menos de la mitad se describe la técnica para abordar las malformaciones palpebrales, lo que supuso un reto quirúrgico. Nuestra actuación incluyó una tarsorrafia lateral y la toma de injertos de piel de la superficie palmar del antebrazo, área retroauricular y fosa supraclavicular, así como injertos grasos de la superficie interna de ambos muslos para la reconstrucción palpebral. Se trata del primer caso de síndrome de Barber-Say en el que se utilizan injertos supraclaviculares y del antebrazo

Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge. The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms

Coroidopatía hipertensiva y carcinoma adrenal: una nueva asociación / Hypertensive choroidopathy and adrenal carcinoma: A new association

Una paciente caucásica de 17 años de edad acudió a nuestro servicio con disminución de la visión; no asociaba otros síntomas en aquel momento. La exploración oftalmológica reveló hallazgos típicos de coroidopatía hipertensiva: manchas de Elschnig y estrías de Siegrist. El examen médico posterior reveló una tensión arterial de 220/155 mm Hg y se determinó que la causa subyacente de dicho trastorno era un carcinoma adrenal metastásico secretor. Este caso representa el primero descrito en el que se asocia la coroidopatía hipertensiva al carcinoma adrenal

A 17 year-old Caucasian female presented with decreased vision, with no other symptoms reported at that time. Ophthalmological examination revealed typical signs of hypertensive choroidopathy, Elschnig spots, and Siegrist streaks. Further medical examination found high blood pressure (220/155 mmHg), with a metastatic hormone-secreting adrenal carcinoma being the underlying cause of these alterations. To our knowledge, this is the first reported case of hypertensive choroidopathy associated with adrenal carcinoma

Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report. / Reconstrucción palpebral multidisciplinar en el síndrome de Barber-Say: a propósito de un caso.

Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge. The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms.

Hypertensive choroidopathy and adrenal carcinoma: A new association. / Coroidopatía hipertensiva y carcinoma adrenal: una nueva asociación.

A 17 year-old Caucasian female presented with decreased vision, with no other symptoms reported at that time. Ophthalmological examination revealed typical signs of hypertensive choroidopathy, Elschnig spots, and Siegrist streaks. Further medical examination found high blood pressure (220/155mmHg), with a metastatic hormone-secreting adrenal carcinoma being the underlying cause of these alterations. To our knowledge, this is the first reported case of hypertensive choroidopathy associated with adrenal carcinoma.

Retinopatía asociada a ocriplasmina: posible causa de fracaso de cierre de agujero macular / Ocriplasmin retinopathy: Possible cause of macular hole closure failure

CASO CLÍNICO: Mujer de 53 años con agujero macular estadio 2, que recibió como primera opción terapéutica una inyección de ocriplasmina, pero a la que se le tuvo que practicar vitrectomía pars plana por aumento del agujero macular postinyección. La ganancia visual tras la cirugía fue mínima a pesar del cierre del agujero, lo que podría explicarse por la atrofia retiniana externa como consecuencia de los potenciales mecanismos tóxicos asociados a ocriplasmina. Discusión: Son necesarios más estudios para entender el completo impacto de la ocriplasmina en la función visual a largo plazo

CASE REPORT: A 53 year-old woman with a stage 2 macular hole received ocriplasmin injection as a first approach. She subsequently underwent pars plana vitrectomy due to enlargement of the hole post-injection. The visual gain following the surgery was minimal despite closure of the hole. This could be explained by outer retina atrophy as a consequence of potential toxic mechanisms related to ocriplasmin. DISCUSSION: Further studies may be warranted to fully understand the impact of ocriplasmin on long-term visual function

Retinopatía Purtscher-like asociada a dermatomiositis y linfohistiocitosis hemofagocítica / Purtscher-like retinopathy associated with dermatomyositis and hemophagocytic lymphohistiocytosis

CASO CLÍNICO: Niña de 11 años de edad con debilidad muscular progresiva debida a dermatomiositis y linfohistiocitosis hemofagocítica, en cuyo examen funduscópico se detectan múltiples exudados algodonosos, tortuosidad venosa y hemorragias en llama, lo que lleva al diagnóstico de retinopatía Purtscher-like. DISCUSIÓN: La retinopatía de Purtscher es una alteración microvascular de diagnóstico clínico y etiología probablemente embólica. Su tratamiento es controvertido, siendo los corticoides sistémicos como la elección más extendida

CASE REPORT: An 11 year-old girl with progressive muscle weakness due to dermatomyositis and hemophagocytic lymphohistiocytosis in which multiple cotton exudates, venous tortuosity and flame haemorrhages are detected in the funduscopic examination, leading to the diagnosis of Purtscher-like retinopathy. DISCUSSION: Purstcher's retinopathy is a microvascular disorder with clinical signs of probable thrombotic origin. Its treatment is controversial, with systemic corticosteroids being the most widespread choice

Ocriplasmin retinopathy: Possible cause of macular hole closure failure. / Retinopatía asociada a ocriplasmina: posible causa de fracaso de cierre de agujero macular.

CASE REPORT: A 53 year-old woman with a stage 2 macular hole received ocriplasmin injection as a first approach. She subsequently underwent pars plana vitrectomy due to enlargement of the hole post-injection. The visual gain following the surgery was minimal despite closure of the hole. This could be explained by outer retina atrophy as a consequence of potential toxic mechanisms related to ocriplasmin. DISCUSSION: Further studies may be warranted to fully understand the impact of ocriplasmin on long-term visual function.

Fibroxantoma atípico conjuntival recurrente en el xeroderma pigmentoso / Recurrent conjunctival atypical fibroxanthoma in Pigmentosum Xeroderma

Caso clínico: Un niño de 7 años con xeroderma pigmentoso presenta una recurrencia de un fibroxantoma atípico conjuntival después de 2 cirugías previas. En esta tercera intervención el paciente es tratado mediante escisión quirúrgica de la tumoración más crioterapia en el lecho. Por el riesgo de recurrencia se asoció en el postoperatorio mitomicina C 0,02% tópica con buen resultado clínico. Discusión: La exéresis quirúrgica con crioterapia y mitomicina C tópica es un tratamiento efectivo en el caso de un fibroxantoma atípico con alto potencial de recurrencia e invasión. Es necesario un seguimiento oftalmológico, así como pediátrico general en estos pacientes y asociar ayudas de apoyo (AU)

Case report: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. Discussion: Surgical exeresis with cryotherapy and topical Mitomycin C is an effective treatment for a case of an atypical fibroxanthoma with a high potential for recurrence and invasion. An ophthalmologic follow-up is required for these patients, as well as general paediatric care and support aids (AU)

Atrofia geográfica: etiopatogenia y terapias actuales / Geographic atrophy: Etiopathogenesis and current therapies

La atrofia geográfica se caracteriza por un déficit visual severo cuya etiología y fisiopatología aún están por dilucidar. Como hipótesis de trabajo, el daño oxidativo desencadenaría una inflamación crónica en el complejo membrana de Bruch-EPR-coriocapilar, cobrando protagonismo la activación del complemento. Algunos sujetos con mutaciones en el sistema del complemento y otros factores tienen menor capacidad en la modulación de la respuesta inflamatoria, lo que se traduce en daño celular y acumulación de desechos. Esta acumulación de desechos intracelulares y extracelulares se manifiesta como drusas y alteraciones pigmentarias que preceden a la atrofia de fotorreceptores, EPR y coriocapilar, existiendo un proceso isquémico de base con disminución del flujo coroideo. Todos estos procesos se objetivan como hallazgos tomográficos y signos de la autofluorescencia que son útiles en la evaluación de los pacientes con DMAE atrófica, pudiendo establecer un pronóstico individualizado. Terapias antiinflamatorias, antioxidantes y reductora de la acumulación de toxinas para la preservación de células del EPR y fotorreceptores están siendo investigadas para disminuir el avance de esta enfermedad

Geographic atrophy is characterized by severe visual deficit whose etiology and pathophysiology are yet to be elucidated. As a working hypothesis, oxidative damage could trigger a chronic inflammation in Bruch's membrane-RPE-choriocapillaris complex, mostly due to complement pathway overactivation. Some individuals with mutations in the complement system and other factors have diminished capacity in the modulation of the inflammatory response, which results in cell damage and waste accumulation. This accumulation of intracellular and extracellular waste products manifests as drusen and pigmentary changes that precede the atrophy of photoreceptors, RPE, choriocapillaris with an ischemic process with decreased choroid flow. All these processes can be detected as tomographic findings and autofluorescence signals that are useful in the evaluation of patients with atrophic AMD, which helps to establish an individualized prognosis. Anti-inflammatory, antioxidant and therapies that decrease the accumulation of toxins for the preservation of the RPE cells and photoreceptors are being investigated in order to slow down the progression of this disease

Geographic atrophy: Etiopathogenesis and current therapies. / Atrofia geográfica: etiopatogenia y terapias actuales.

Geographic atrophy is characterized by severe visual deficit whose etiology and pathophysiology are yet to be elucidated. As a working hypothesis, oxidative damage could trigger a chronic inflammation in Bruch's membrane-RPE-choriocapillaris complex, mostly due to complement pathway overactivation. Some individuals with mutations in the complement system and other factors have diminished capacity in the modulation of the inflammatory response, which results in cell damage and waste accumulation. This accumulation of intracellular and extracellular waste products manifests as drusen and pigmentary changes that precede the atrophy of photoreceptors, RPE, choriocapillaris with an ischemic process with decreased choroid flow. All these processes can be detected as tomographic findings and autofluorescence signals that are useful in the evaluation of patients with atrophic AMD, which helps to establish an individualized prognosis. Anti-inflammatory, antioxidant and therapies that decrease the accumulation of toxins for the preservation of the RPE cells and photoreceptors are being investigated in order to slow down the progression of this disease.

Purtscher-like retinopathy associated with dermatomyositis and hemophagocytic lymphohistiocytosis. / Retinopatía Purtscher-like asociada a dermatomiositis y linfohistiocitosis hemofagocítica.

CASE REPORT: An 11 year-old girl with progressive muscle weakness due to dermatomyositis and hemophagocytic lymphohistiocytosis in which multiple cotton exudates, venous tortuosity and flame haemorrhages are detected in the funduscopic examination, leading to the diagnosis of Purtscher-like retinopathy. DISCUSSION: Purstcher's retinopathy is a microvascular disorder with clinical signs of probable thrombotic origin. Its treatment is controversial, with systemic corticosteroids being the most widespread choice.

Recurrent conjunctival atypical fibroxanthoma in Pigmentosum Xeroderma. / Fibroxantoma atípico conjuntival recurrente en el xeroderma pigmentoso.

CASE REPORT: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. DISCUSSION: Surgical exeresis with cryotherapy and topical Mitomycin C is an effective treatment for a case of an atypical fibroxanthoma with a high potential for recurrence and invasion. An ophthalmologic follow-up is required for these patients, as well as general paediatric care and support aids.

Un oftalmólogo Premio Nobel / An ophthalmologist Nobel Prize Winner

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Un Papa oftalmólogo / An ophthalmologist Pope

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