Déficit de 3-hidroxiacil-CoA-deshidrogenasa de cadena larga: a propósito de un caso / Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report

CASO CLÍNICO: Paciente de 5 años de edad remitido para valoración oftalmológica con el diagnóstico de déficit de 3-hidroxiacil-CoA deshidrogenasa de cadena larga. Presentaba como antecedente la aparición de crisis metabólicas agudas precipitadas por infecciones banales y rabdomiólisis. El examen oftalmoscópico reveló una atrofia coriorretiniana peripapilar y una maculopatía granular difusa. La agudeza visual era de 6/6 en ambos ojos y las pruebas electrofisiológicas normales. DISCUSIÓN: Se realiza una revisión de la bibliografía y los conocimientos recientes de esta enfermedad mediante la descripción de un caso clínico documentando los hallazgos obtenidos mediante autofluorescencia y tomografía de coherencia óptica para mejorar el conocimiento existente sobre ella

CLINICAL CASE: A five-year-old patient, with a diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, was referred for an ophthalmological examination. He had a history of acute metabolic crises precipitated by intercurrent infections,as well as rhabdomyolysis. The fundoscopic examination revealed a peripapillary chorioretinal atrophy and a diffuse granular appearance of the macular retinal pigment epithelium. Best corrected visual acuity was 6/6 in both eyes, and he had a normal electroretinography test. DISCUSSION: We perform a review of the literature and recent findings in relation to this disease through the description of a clinical case in order to improve the knowledge of this uncommon disorder

Transient Subfoveal Fluid and Visual Loss after Ocriplasmin.

BACKGROUND: Intravitreal injection of ocriplasmin for the enzymatic resolution of vitreomacular traction was approved for the EU in 2013. We wish to report our clinical findings and adverse effects that were not observed in the registration trial. THERAPY AND OUTCOME: In 5 of our first 12 consecutive cases, resolution of the vitreomacular traction occurred after injecting ocriplasmin. 9 of the 12 patients developed subfoveal fluid, manifest at day 3 post-intervention; this was completely re-absorbed by 6 weeks in 8 of 9 eyes. All 9 cases with subretinal fluid exhibited a significant reduction in mean visual acuity at the first visit, of 0.33 LogMAR (p = 0.008, Wilcoxon signed rank test). After regression of the subretinal fluid, visual acuity returned to the baseline value. CONCLUSIONS: In the light of the documented adverse effects of the registration trial, the relatively high rate of subfoveal fluid after injecting ocriplasmin was surprising. Possible causes include enzymatic lysis of the matrix between the outer segments of the photoreceptors and the microvilli of the RPE-cells, or barrier disturbances in the RPE through lysis of the zonulae occludentes.

[Development of serous retinopathy during therapy of a metastatic cutaneous melanoma]. / Entwicklung einer serösen Retinopathie unter Behandlung eines metastasierten kutanen Melanoms.

Inhibitors of the mitogen-activated protein kinase (MAPK) signal pathway have decisively improved the prognosis of metastatic cutaneous melanoma in patients with an activating mutation in position V600 of the BRAF gene. We report on a patient who was regularly examined in our clinic while participating in a randomized blinded clinical trial. The aim of this trial was to examine the effectiveness and tolerability of a combination of the BRAF inhibitor dabrafenib and the MAPK kinase (MEK) inhibitor trametinib compared with a monotherapy with dabrafenib (plus placebo). During therapy the patient developed a diffuse neuroretinal detachment which could not be completely reversed after discontinuation of the study medication.

[Serous vascularized pigment epithelial detachment in exudative AMD. Morphological typing and risk of tears in the RPE]. / Seröse vaskularisierte Pigmentepithelabhebungen bei exsudativer altersbedingter Makuladegeneration : Morphologische Typisierung und Risiko eines Einrisses im retinalen Pigmentepithel.

PURPOSE: Are there any morphological parameters in pigment epithelial detachment (PED) in eyes with age-related macular degeneration (AMD), which could identify the development of tears (RIP) in the retinal pigment epithelium (RPE) before initiation of anti-vascular endothelial growth factor (VEGF) therapy? METHODS: Retrospectively, the spectral domain optical coherence tomography (SD-OCT), FLA and near infrared (NIR) images of 98 eyes with PED in exudative AMD before treatment (ranibizumab or bevacizumab) were analyzed. Eyes in which a tear in the RPE (RIP group) could be observed during treatment were compared to eyes without the development of RIP (PED group) in the following morphological parameters of PED: height, number of peaks, presence of hyporeflective fissures at the base of the PED, structure of the RPE, presence of floating structures in the PED with maximum hyperreflectivity, amount and localization of hyperreflectivity in the PED and hyperreflectivity in the NIR images. RESULTS: In the 80 eyes of the PED group the mean PED height was 373.7± 197 µm and in the 18 eyes of the RIP group the mean PED height was higher (694.2± 284.3 µm, p < 0.0001). A difference was also seen in the number of peaks per PED (PED group 43%, RIP group 72%, p = 0.039) and in the hyperreflectivity in NIR images (PED group 68%, RIP group 94%, p = 0.033). There were no significant differences in the other morphological parameters. A classification into four types of PED was found by the parameters height and number of peaks. The PED type with a height > 350 µm and one peak (RIP 43%) developed tears more often (p = 0.001) than the PED type < 350 µm with one peak (RIP 0%, p = 0.001). A trend in the visual acuity over 156 weeks was seen: in PED types with heights > 350 µm there was a lower increase in the visual acuity than in PED types < 350 µm (rm ANOVA p = 0.18; ɛ HH = 0.88). Furthermore, in PED types > 350 µm with multiple peaks the total number of injections necessary was higher than in the other PED types (p = 0.032). CONCLUSION: Morphological parameters, such as PED height, number of peaks per PED in OCT images and hyperreflectivity in NIR images are prognostic factors for RPE tears in exudative AMD. The PED height and number of peaks per PED are useful for classification of PED in the daily routine.

The treatment of recurrent central serous chorioretinopathy with intravitreal bevacizumab.

PURPOSE: To study the effect of intravitreal bevacizumab injection in recurrent central serous chorioretinopathy (CSC). METHODS: Retrospective case series. Patients followed at the Yale Eye Center with a diagnosis of recurrent CSC who were treated with intravitreal bevacizumab from January 2007 to January 2009 were studied. Intravitreal injections of bevacizumab were given once every 4 weeks until sub-retinal fluid resolved. We collected preinjection visual acuity, optical coherence tomography (OCT), fluorescein angiography imaging, number of injections administered, OCT data after each injection, and visual acuity after each injection. Each patient was followed for a minimum of 6 months. RESULTS: Three patients met the inclusion criteria. All patients were men and aged from 39 to 46 years. All patients had recurrent disease. None had received prior treatment. Mean preinjection visual acuity was logMar 0.30, with a median of 0.30. Mean postbevacizumab visual acuity was 0.03, 0.07, and 0.03 at 1, 3, and 6 months, respectively. Median postbevacizumab acuity was 0, 0.10, and 0 at 1, 3, and 6 months, respectively. Baseline preinjection central macular thickness (CMT) by OCT imaging ranged from 320 to 500 µm, with a mean of 388 µm and a median of 344 µm. Mean CMT at month 1 was 248 µm, with a median of 190 µm. Mean CMT at month 3 was 252 µm, with a median of 281 µm. Mean CMT at month 6 was 273 µm, with a median of 187 µm. CONCLUSIONS: Bevacizumab may be an effective treatment option for patients with recurrent CSC. Although long-term efficacy is unknown, it is a relatively low-risk treatment option that may improve visual acuity and CMT.