Untreated combined persistent fetal vasculature with "coralliform" cataract in a Hispanic 21 year-old male.

Persistent fetal vasculature is a spectrum of ocular abnormalities linked to an incomplete regression of the fetal ocular vasculature. A 21-years old male patient came to the outpatient clinic reporting low vision and strabismus in his left eye since 3 years of age. Ophtalmological examination revealed a normal right eye, while the left eye had a best corrected visual acuity of hand-motion perception, a 30 prism diopters esotropia, a "coralliform" cataract and a vitreous stalk joining the posterior face of the lens and the optic nerve. The coralliform cataract possessed spindle-shaped processes radiating out of its center in an axial direction and was located in the posterior subcapsular area. The patient elected to not undergo vitreoretinal surgery due to the poor visual prognosis. The unusual cataract present in the described patient could be related to his untreated status, as previous authors have reported that untreated cataracts in persistent fetal vasculature may undergo diverse degenerations.

Evaluación multimodal de un «micromelanocitoma» del disco óptico: un reporte de caso / Multimodal imaging assessment of a “micro” optic disk melanocytoma: A case report

Un melanocitoma del disco óptico es una lesión neoplásica pigmentada y benigna que en promedio mide 2,00mm de diámetro. Melanocitomas del disco óptico más pequeños son raros y no han sido estudiados con múltiples técnicas de imagen. Un caso de un «micromelanocitoma» del disco óptico con un diámetro de 0,71mm fue estudiado con múltiples estudios de imagen, incluyendo autofluorescencia de fondo de ojo, ultrasonido ocular, campos visuales, tomografía de coherencia óptica (OCT) y angiografía por OCT. Mientras que la exploración con biomicroscopia y la autoflourescencia de fondo de ojo revelan cambios compatibles con los casos de tamaño promedio previamente publicados, la OCT, angiografía por OCT y el ultrasonido revelan cambios que difieren de los artículos previos y que podrían ser útiles para el seguimiento (AU)

An optic disk melanocytoma is a benign pigmented neoplasm of the optic disk measuring 2.00mm of diameter in average. Smaller optic disk melanocytomas are rare and have not been studied with multiple imaging studies. A case of a “micro” optic disk melanocytoma measuring 0.71mm in diameter was studied by multiple imaging modalities, including fundus autofluorescence, ultrasound, visual fields, optical coherence tomography (OCT) and OCT angiography. While clinical appreciation and fundus autofluorescence reveal changes compatible with previously reported cases, OCT, OCT angiography and ultrasound reveal specific changes that could be useful for follow up (AU)

Multimodal imaging assessment of a "micro" optic disk melanocytoma: A case report.

An optic disk melanocytoma is a benign pigmented neoplasm of the optic disk measuring 2.00 mm of diameter in average. Smaller optic disk melanocytomas are rare and have not been studied with multiple imaging studies. A case of a "micro" optic disk melanocytoma measuring 0.71 mm in diameter was studied by multiple imaging modalities, including fundus autofluorescence, ultrasound, visual fields, optical coherence tomography (OCT) and OCT angiography. While clinical appreciation and fundus autofluorescence reveal changes compatible with previously reported cases, OCT, OCT angiography and ultrasound reveal specific changes that could be useful for follow up.

Multimodal imaging assessment of a "micro" optic disk melanocytoma: A case report. / Evaluación multimodal de un «micromelanocitoma¼ del disco óptico: un reporte de caso.

An optic disk melanocytoma is a benign pigmented neoplasm of the optic disk measuring 2.00mm of diameter in average. Smaller optic disk melanocytomas are rare and have not been studied with multiple imaging studies. A case of a "micro" optic disk melanocytoma measuring 0.71mm in diameter was studied by multiple imaging modalities, including fundus autofluorescence, ultrasound, visual fields, optical coherence tomography (OCT) and OCT angiography. While clinical appreciation and fundus autofluorescence reveal changes compatible with previously reported cases, OCT, OCT angiography and ultrasound reveal specific changes that could be useful for follow up.

Meibografía infrarroja y evaluación molecular de la mutación del gen p63 en un paciente mexicano con síndrome EEC / Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC síndrome

OBJETIVO: Reportar el hallazgo de la meibografía infrarroja en un paciente mexicano con el síndrome de EEC (Ectrodactyly-ectodermal dysplasia-cleft syndrome) confirmado por análisis molecular del gen p63. CASO CLÍNICO: Paciente varón de 31 años de edad que acude por presentar una historia de pérdida visual progresiva en ambos ojos asociada a fotofobia de larga duración. El paciente nació con labio y paladar hendido, y ectodactilia de la mano derecha; posteriormente presentó displasia ungueal, anodoncia y alopecia, con lo que se diagnosticó displasia ectodérmica. Las alteraciones oftalmológicas se limitaron a los anexos y la superficie ocular. La meibografía infrarroja in vivo mostró la ausencia total de glándulas de Meibomio en los párpados inferiores y deficiencia severa en los párpados superiores. Además, identificamos que el paciente es un portador heterocigoto de una mutación de sentido equivocado R304W (C -> T) en el exón 8 del gen p63. DISCUSIÓN: La mutación R304W en la región del gen p63 está definitivamente relacionada con características tales como la ausencia de glándulas de Meibomio

OBJECTIVE: To report the finding of infrared meibography in a Mexican patient with EEC syndrome (Ectrodactyly-ectodermal dysplasia-cleft syndrome) confirmed by molecular analysis of the p63 gene. Clinical case: A 31 year-old male patient was seen due to a history of progressive visual loss in both eyes associated with long-term photophobia. The patient was born with cleft lip and palate, ectrodactyly of right hand, and afterwards, displayed nail dysplasia, anodontia and alopecia, with which ectodermal dysplasia was diagnosed. The ophthalmological findings were limited to the adnexa and the ocular surface. In vivo infrared meibography showed total absence of Meibomian glands in the lower eyelids and severe deficiency in the upper eyelids. In addition, it was shown that the patient was a heterozygous carrier of a missense mutation R304W (C -> T) in exon 8 of the p63 gene. DISCUSSION: The R304W mutation in the p63 gene region is definitely related to characteristics such as the absence of Meibomian glands

Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome. / Meibografía infrarroja y evaluación molecular de la mutación del gen p63 en un paciente mexicano con síndrome EEC.

OBJECTIVE: To report the finding of infrared meibography in a Mexican patient with EEC syndrome (Ectrodactyly-ectodermal dysplasia-cleft syndrome) confirmed by molecular analysis of the p63 gene. CLINICAL CASE: A 31 year-old male patient was seen due to a history of progressive visual loss in both eyes associated with long-term photophobia. The patient was born with cleft lip and palate, ectrodactyly of right hand, and afterwards, displayed nail dysplasia, anodontia and alopecia, with which ectodermal dysplasia was diagnosed. The ophthalmological findings were limited to the adnexa and the ocular surface. In vivo infrared meibography showed total absence of Meibomian glands in the lower eyelids and severe deficiency in the upper eyelids. In addition, it was shown that the patient was a heterozygous carrier of a missense mutation R304W (C → T) in exon 8 of the p63 gene. DISCUSSION: The R304W mutation in the p63 gene region is definitely related to characteristics such as the absence of Meibomian glands.