Primary and secondary retinal capillary haemangioma in Mexico.

A series is presented of sixteen cases of retinal capillary haemangioma (RCH) from consecutive patients at an ophthalmology teaching hospital in Mexico City. There were seven primary haemangioblastomas, and nine due to von Hippel-Lindau disease (VHL). All cases associated with VHL already had systemic manifestations, such as, cerebellar, medullary and renal tumours. Treatment of capillary haemangiomas must be individualised, based on several factors, including the number of lesions, exudation, or presence of retinal detachment. A multidisciplinary approach is essential.

Hemangioma capilar de retina primario y secundario en México / Primary and secondary retinal capillary haemangioma in Mexico

Se presenta una serie de 16 casos de hemangioma capilar retiniano de pacientes valorados en un hospital oftalmológico de enseñanza en la Ciudad de México: 7 de ellos eran hemangioblastomas primarios y 9 eran secundarios a enfermedad de von Hippel-Lindau. Todos los casos relacionados con esta enfermedad presentaban en ese momento manifestaciones sistémicas como: tumores cerebelosos, medulares o renales. El tratamiento para el hemangioma capilar retiniano debe ser individualizado con base en diversos factores como el número de lesiones, la exudación o la presencia de desprendimiento de retina asociado. Se debe de contar con un abordaje multidisciplinario (AU)

A series is presented of 16 cases of retinal capillary haemangioma from consecutive patients at an ophthalmology teaching hospital in Mexico City. There were 7 primary haemangioblastomas, and 9 due to von Hippel-Lindau disease. All cases associated with this disease already had systemic manifestations, such as cerebellar, medullary and renal tumours. Treatment of capillary haemangiomas must be individualised, based on several factors, including the number of lesions, exudation, or presence of retinal detachment. A multidisciplinary approach is essential (AU)

Hallazgos por tomografía de coherencia óptica en un caso de agujero macular tratado con trasplante autógeno de retina / Optical coherence tomography findings in a case of macular hole treated with an autologous retinal transplant

Se presenta un caso de una mujer de 56 años de edad con un agujero macular grande, de larga evolución, a quien se le realizó una cirugía de trasplante autógeno de retina neurosensorial. En el seguimiento con retinografías y tomografía de coherencia óptica de dominio espectral, destacó la presencia de edema del injerto con hiperreflectividad de las capas retinianas internas, en las primeras semanas. Después, se observaron puntos hiperreflectivos, predominantemente en las capas internas de la retina, manteniendo la continuidad de las capas externas y la presencia de un material de aspecto lanudo en la superficie del injerto. Al final del seguimiento hubo una integración completa del injerto en la zona receptora del agujero, con la correspondiente mejoría funcional (AU)

A case is presented of a 56-year-old female patient with a long-standing large macular hole who underwent autologous retina transplant surgery. Fundus images and spectral-domain optical coherence tomography images showed the presence of graft oedema with its corresponding hyper-reflectivity of the inner retinal layers in the first weeks of follow-up. Hyper-reflective dots later appeared mainly in the inner retinal layers. The integrity of the outer retinal layers and a woolly-looking material on the surface of the graft were observed. At the end of follow-up, the graft had integrated with the recipient tissue with functional improvement (AU)

Optical coherence tomography findings in a case of macular hole treated with an autologous retinal transplant. / Hallazgos por tomografía de coherencia óptica en un caso de agujero macular tratado con trasplante autógeno de retina.

A case is presented of a 56-year-old female patient with a long-standing large macular hole who underwent autologous retina transplant surgery. Fundus images and spectral-domain optical coherence tomography images showed the presence of graft oedema with its corresponding hyper-reflectivity of the inner retinal layers in the first weeks of follow-up. Hyper-reflective dots later appeared mainly in the inner retinal layers. The integrity of the outer retinal layers and a woolly-looking material on the surface of the graft were observed. At the end of follow-up, the graft had integrated with the recipient tissue with functional improvement.

No todo tumor hiperpigmentado es melanoma: adenoma del epitelio pigmentario del cuerpo ciliar / Not every pigmented tumour is melanoma: Adenoma of the ciliary body pigment epithelium

El diagnóstico diferencial entre melanoma y seudomelanoma requiere de múltiples estudios clínicos y de la experiencia en los pequeños detalles. Presentamos el caso de un varón de 57 años con un adenoma del epitelio pigmentario del cuerpo ciliar, al cual se le realizó una enucleación por la sospecha diagnóstica de melanoma coroideo

Differential diagnosis between a melanoma and a pseudomelanoma requires many years of experience and ocular studies, and requires paying attention to the smallest details. The case is presented of a 57 year-old male with an adenoma of the ciliary body pigment epithelium that was treated with an enucleation of the eye due to a suspicion of a choroidal melanoma

Not every pigmented tumour is melanoma: Adenoma of the ciliary body pigment epithelium. / No todo tumor hiperpigmentado es melanoma: adenoma del epitelio pigmentario del cuerpo ciliar.

Differential diagnosis between a melanoma and a pseudomelanoma requires many years of experience and ocular studies, and requires paying attention to the smallest details. The case is presented of a 57 year-old male with an adenoma of the ciliary body pigment epithelium that was treated with an enucleation of the eye due to a suspicion of a choroidal melanoma.

Membrana neovascular coroidea asociada a retinitis pigmentosa unilateral / Choroidal neovascular membrane associated with unilateral retinitis pigmentosa

Mujer de 67 años con diabetes mellitus tipo 2 sin otros antecedentes de interés que consultó por disminución de agudeza visual de su ojo izquierdo de 4 meses de evolución. El examen de fondo de ojo reveló datos de retinopatía diabética no proliferativa moderada en el ojo derecho y lesiones pigmentadas en forma de espículas óseas y atrofia del epitelio pigmentario retiniano en la media periferia y en el área macular en el ojo izquierdo. El electrorretinograma de campo completo se mostró plano, con una insinuación leve de la onda b en adaptación a la luz con destello único de 3,0cd en el ojo izquierdo. En la tomografía de coherencia óptica se vio la retina atrófica en todas sus capas, quistes intrarretinianos y un desprendimiento neurosensorial seroso de la retina macular con una lesión subretiniana de alta reflectividad en el ojo izquierdo. Fueron descartadas causas infecciosas e inflamatorias. Se administraron 3 inyecciones de ranibizumab intravítreo con periodicidad mensual. La presencia de membrana neovascular coroidea asociada con retinitis pigmentosa unilateral no ha sido publicada previamente. El presente caso respondió a ranibizumab intravítreo

A 67 year-old woman with diabetes mellitus type 2 no medical background of interest was attended in hospital due to visual loss of left eye of 4 months of onset. The fundus examination revealed findings corresponding to moderate non-proliferative diabetic retinopathy in the right eye and pigmented lesions similar to bone spicules and atrophy of the retinal pigment epithelium in the middle periphery and in the macular area in the left eye. The full-field electroretinogram was flat, with a slight insinuation of the b-wave in the light adaptation with a single flash of 3.0cd in the left eye. The optical coherence tomography showed the atrophic retina in all its layers, as well as intraretinal cysts and a serous neurosensory detachment of the macular retina with a lesion of high reflectivity in the left eye. Infectious and inflammatory diseases were ruled out. Three doses of intravitreal ranibizumab were administered monthly. The presence of choroidal neovascular membrane associated with unilateral retinitis pigmentosa has not been previously reported. The patient improved with intravitreal ranibizumab

Choroidal neovascular membrane associated with unilateral retinitis pigmentosa. / Membrana neovascular coroidea asociada a retinitis pigmentosa unilateral.

A 67 year-old woman with diabetes mellitus type 2 no medical background of interest was attended in hospital due to visual loss of left eye of 4 months of onset. The fundus examination revealed findings corresponding to moderate non-proliferative diabetic retinopathy in the right eye and pigmented lesions similar to bone spicules and atrophy of the retinal pigment epithelium in the middle periphery and in the macular area in the left eye. The full-field electroretinogram was flat, with a slight insinuation of the b-wave in the light adaptation with a single flash of 3.0cd in the left eye. The optical coherence tomography showed the atrophic retina in all its layers, as well as intraretinal cysts and a serous neurosensory detachment of the macular retina with a lesion of high reflectivity in the left eye. Infectious and inflammatory diseases were ruled out. Three doses of intravitreal ranibizumab were administered monthly. The presence of choroidal neovascular membrane associated with unilateral retinitis pigmentosa has not been previously reported. The patient improved with intravitreal ranibizumab.

Albinismo ocular con mutación en GPR143: hallazgos en autofluorescencia de campo amplio y tomografía de coherencia óptica / Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography

Varón de 12 años que consulta por nistagmo y visión baja desde el nacimiento. Su madre también consulta por visión baja de ojo derecho desde pequeña que empeoró últimamente. El examen físico no reveló alteraciones en la pigmentación de piel y cabello. En el examen del segmento anterior del niño se observaron áreas de hipopigmentación circunferencial leve de iris en ambos ojos. El examen de fondo de ojo reveló un fondo coroideo por ausencia de melanina en el epitelio pigmentario retiniano. En la autofluorescencia se observa una ausencia de la hipoautofluorescencia macular fisiológica y en la tomografía de coherencia óptica se objetivó hipoplasia foveal en ambos ojos. En el examen de fondo de ojo de la madre se observaron cambios pigmentarios maculares tenues en el ojo derecho y unas manchas radiadas hiperpigmentadas en la periferia retiniana de ambos ojos que en la autofluorescencia de campo amplio se vieron hipoautofluorescentes. En la tomografía de coherencia óptica del ojo derecho se objetivó una cavitación de las capas externas retinianas en la fóvea. Se hace el estudio genético por secuenciación nucleotídica en madre e hijo y se encuentra una mutación en el gen GPR143: el niño fue hemicigote y la madre heterocigote. Se diagnostica albinismo ocular ligado a X y se realiza el aconsejamiento genético respectivo. El albinismo ocular ligado a X es la variante genética más frecuente de esta enfermedad. Si bien las alteraciones pigmentarias periféricas en las madres heterocigotas fueron descritas en la literatura previamente, no existen reportes de cavitaciones en las capas retinianas externas por tomografía de coherencia óptica

A 12 year-old boy who consulted due to nystagmus and low vision from birth. His mother also consulted for low vision of the right eye since she was a child, which worsened recently. The physical examination revealed no alterations in skin and hair pigmentation. In the examination of the anterior segment of the child, areas of slight circumferential hypopigmentation were observed in the iris in both eyes. The fundus examination revealed a choroidal fundus due to the absence of melanin in the retinal pigment epithelium. In the autofluorescence, an absence of physiological macular hypo-autofluorescence was observed and, in optical coherence tomography, foveal hypoplasia was observed in both eyes. In the ocular fundus examination of the mother, slight macular pigmentary changes were observed in the right eye, with hyperpigmented radiated spots in the retinal periphery of both eyes, which were hypo-autofluorescent in the wide-field autofluorescence. In the optical coherence tomography of the right eye, a cavitation of the outer retinal layers was observed in the fovea. The genetic study by nucleotide sequencing was performed on the mother and the child. In the mutation found in the GPR143 gene, the son was hemizygous and the mother was heterozygous. X-linked ocular albinism was diagnosed and the genetic counselling was carried out. Ocular albinism linked to X is the most frequent genetic variant of this disease. Peripheral pigment alterations in heterozygous mothers have been previously described in the literature, but there are no reports of cavitations in the external retinal layers using optical coherence tomography

Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography. / Albinismo ocular con mutación en GPR143: hallazgos en autofluorescencia de campo amplio y tomografía de coherencia óptica.

A 12 year-old boy who consulted due to nystagmus and low vision from birth. His mother also consulted for low vision of the right eye since she was a child, which worsened recently. The physical examination revealed no alterations in skin and hair pigmentation. In the examination of the anterior segment of the child, areas of slight circumferential hypopigmentation were observed in the iris in both eyes. The fundus examination revealed a choroidal fundus due to the absence of melanin in the retinal pigment epithelium. In the autofluorescence, an absence of physiological macular hypo-autofluorescence was observed and, in optical coherence tomography, foveal hypoplasia was observed in both eyes. In the ocular fundus examination of the mother, slight macular pigmentary changes were observed in the right eye, with hyperpigmented radiated spots in the retinal periphery of both eyes, which were hypo-autofluorescent in the wide-field autofluorescence. In the optical coherence tomography of the right eye, a cavitation of the outer retinal layers was observed in the fovea. The genetic study by nucleotide sequencing was performed on the mother and the child. In the mutation found in the GPR143 gene, the son was hemizygous and the mother was heterozygous. X-linked ocular albinism was diagnosed and the genetic counselling was carried out. Ocular albinism linked to X is the most frequent genetic variant of this disease. Peripheral pigment alterations in heterozygous mothers have been previously described in the literature, but there are no reports of cavitations in the external retinal layers using optical coherence tomography.