Long-term follow-up of a patient with partial optic nerve avulsion associated with submacular hemorrhage who underwent pneumatic displacement.

Purpose: We report the case of a 16-year-old boy with partial optic nerve avulsion (ONA) and submacular hemorrhage (SMH) resulting from blunt ocular trauma who underwent pneumatic displacement and subsequent monitoring with optical coherence tomography (OCT) and fundus photography. Observations: Reduced visual acuity was observed in the right eye at presentation (20/2400). Vitreous hemorrhage, partial ONA, and SMH were observed during dilated fundus examination. SMH was managed via pneumatic displacement. Subsequent examination revealed improvement in the visual acuity of the right eye with a substantial reduction in the subfoveal hemorrhage. Further improvement in visual acuity was observed 6 months after the injury (20/150). A smaller optic nerve head excavation defect, foveal atrophy, and reabsorption of SMH were observed during fundus examination. OCT of the optic nerve revealed that glial growth had covered the avulsion excavation. However, atrophy of the outer retinal layer of the fovea was observed during macular OCT. Conclusions and importance: This case emphasizes the importance of performing multimodal imaging in cases of ONA as it enables the identification of alterations in the retinal layers and optic nerve. The subretinal hemorrhage was displaced from the subfoveal region without any adverse effects.

Microcephaly and Chorioretinopathy Relevance as a Differential Diagnosis.

Microcephaly and chorioretinopathy are genetic disorders that are inherited in an autosomal recessive manner. The most frequent ocular manifestation is the presence of lacunar atrophy in the retina and choroid. The diagnosis of this condition can be challenging as several potential causes and related syndromes need to be ruled out. We present two cases of microcephaly and chorioretinopathy in Mexican patients, their clinical characterization, and discuss the differential diagnoses that should be considered. An 8-year-old girl was examined due to a history of decreased vision in both eyes. Fundus examination showed excavated, well-defined, sectorial, bilateral, and symmetrical areas of chorioretinal atrophy. An 18-year-old male had a history of poor vision since childhood. Previous ophthalmological examinations reported bilateral symmetric chorioretinal atrophy with pigment accumulation. Both patients had a prior diagnosis of microcephaly and language delay. Blood tests and a comprehensive systemic evaluation ruled out intrauterine infections. The electroretinogram showed decreased amplitude and increased implicit time in the photopic and scotopic responses. Genetic tests revealed mutations in the TUBGCP4 gene, leading to a diagnosis of microcephaly and chorioretinopathy. As observed in these cases, there was variability in retinal lesions. The presence of chorioretinal lacunae and genetic testing can help to correctly diagnose this disorder.

Visual rehabilitation via microperimetry in patients with geographic atrophy: a pilot study.

BACKGROUND: Age-related macular degeneration (AMD) is the leading cause of blindness in the western world. As a consequence of AMD, patients develop structural damage that comprises the fovea and subsequently present loss of central vision, low visual acuity and unstable fixation. Contrary to what happens with anti-angiogenic treatment in neovascular AMD, there is currently no definitive treatment to reverse geographic atrophy progression. The aim of this study was to determine the effectiveness of the visual rehabilitation treatment via microperimetry in patients with geographic atrophy. METHODS: Longitudinal and prospective study, 18 patients with areas of geographic atrophy in their eye of better visual acuity were included. Macular integrity assessment (Maia) microperimeter (CentreVue, Padova, Italy) was used to diagnose retinal fixation and sensitivity in these patients. Based on these data and using the training module available in the equipment, the patients underwent visual rehabilitation sessions intended to allow the patient to establish the best possible fixation in the best area of retinal sensitivity. To determine the training effectiveness, the following variables were compared before and after: visual acuity in LogMAR scale with ETDRS charts, reading speed with Minnesota Low-Vision Reading Test (MN Read), average sensitivity threshold in microperimetry; P1 and 95% Bivariate Contour Ellipse Area (BCEA) values were used for fixation stability measurement. RESULTS: Mean age was 77 years old (65-92). Visual acuity of the trained eye was on average 0.7 versus 0.6 LogMAR (p = 0.006) before and one week after training. Reading speed, using both eyes, was 47 words per minute (wpm) before training and 69 wpm after training (p = 0.04). Average retinal sensitivity was 14.1 versus 14.6 db (p = 0.4). Fixation stability improved with P1 values of 45% versus 51% (p = 0.05) and 95% BCEA values of 43 versus 25 (p = 0.02) before and after training, respectively. CONCLUSIONS: Visual training via microperimetry in patients with age-related macular degeneration is effective in improving fixation stability, reading speed, and visual acuity, measured one week after training is completed.

Amaurosis congénita de Leber RPE-65, seguimiento a 7 años.

Leber congenital amaurosis is a retinal dystrophy with several forms of presentation due to its genetic variability. Case of a female girl followed up from 4 to 11 years old is presented, with positive clinical data of nyctalopia, myopia and choroid ocular fundus. Electroretinogram was not measurable in all phases but diagnostic was confirmed by RPE65 mutation genetic study. RPE65 Leber congenital amaurosis is particularly important as it has been researched for a gene therapy treatment with good functional outcomes up to now, awaiting to offer hope and a better quality of life to people with this disease.

[Intraoperative use of coherence tomography in vitreoretinal surgery]. / Utilidad transquirúrgica de la tomografía de coherencia óptica en cirugía vítreo-retiniana.

BACKGROUND: Optical coherence tomography is a useful tool in several diseases. Its intraoperative use with the intention of improving anatomical results has recently been described. PURPOSE: To determine the usefulness and safety of optical coherence tomography during pars plana vitrectomy for several vitreo-retinal diseases. MATERIAL AND METHODS: A prospective case series is reported, in which the decision that influenced the use of the optical coherence tomography imaging during pars plana vitrectomy is evaluated. A RESCAN 700 microscope that includes a spectral domain tomography was used to obtain the images. At the end of each procedure the surgeons completed a questionnaire to determine if the tomographic image had an influence when making decisions during the surgery, or change the decision during the procedure. RESULTS: Thirteen patients with pars plana vitrectomy were included, with cataract surgery also performed in 6 patients. The surgeon considered that the intraoperative image influenced the decision during the procedure in 8 cases. CONCLUSION: Intraoperative optical coherence tomography is helpful for a safe patient diagnosis. It does not affect the surgery time, and in some cases it is useful for optimising the procedure in vitreous-retinal surgery.

Epiteliopatía retiniana pigmentaria difusa (Epiteliopatía en reguero) / Difuse retinal pigment epitheliopathy

Objetivo: Presentar la secuencia angiofluoresceinográfica retinal de pacientes con epiteliopatía pigmentaria retiniana difusa (EPRD). Material y métodos: Se analizaron cinco pacientes en quienes su estudio angio-fluoresceinográfic retinal mostraron las características propias de esa entidad. Resultados: Los casos que se presentan coinciden con las características clínicas y fluorangiográficas de la EPRD que surge como consecuencia de un desprendimiento seroso de la retina neurosensorial condicionando cambios en el epitelio pigmentado de la retina, dando la imagen de "escurrimiento" o "reguero" del material de contraste durante el estudio. Conclusiones: El diagnóstico de esta entidad se realiza con estudio angio-fluoresceinográfico retinal en el que la toma de imágenes de la periferia de la retina son importantes para delimitar el escurrimiento.