Susana Penas

Spectral-Domain Optical Coherence Tomography Features of Acute Syphilitic Posterior Placoid Chorioretinitis: The Role of Autoimmune Response in Pathogenesis

Purpose: Syphilis is an infectious disease that can cause a wide variety of ocular signs. One of the rarest manifestations of ocular syphilis is acute syphilitic posterior placoid chorioretinitis (ASPPC). We report on the spectral-domain optical coherence tomography (SD-OCT) features of a case diagnosed with unilateral ASPPC. Methods: A 64-year-old man presented with a sudden loss of visual acuity (VA) in the right eye. His only clinical sign was a large, geographic, yellow-white lesion centered on the right fovea. Our patient was studied with SD-OCT on presentation and during follow-up, as well as with fluorescein and indocyanine green angiography, electrophysiological study, and serologic and autoimmune screening. Results: Laboratory workup revealed positive serology for active syphilis and elevated anti-beta2 glycoprotein I antibodies. SD-OCT showed a marked distortion of both the choroidal and outer retinal architecture. After treatment, best-corrected VA improved to 20/25. Pattern electroretinography displayed a severe reduction of P50 amplitude, which improved in late follow-up. Six months after presentation, VA was 20/25 and anti-beta2 glycoprotein I antibodies returned to normal levels. Conclusions: Our findings are compatible with immunologically mediated temporary physiological impairment of the neuroretina, since the changes seen by SD-OCT could not have normalized if they were due to anatomical injury. The results of our study provide clues to understanding the pathogenesis of this disease and allow us to define a characteristic temporal sequence of events in ASPPC.

Spectral‐domain optical coherence tomography as a potential biomarker in Huntington's disease

Spectral‐domain optical coherence tomography has been used in several neurological conditions, and peripapillary and macular measurements have been proposed as potential biomarkers in these disorders. The aim of this study was to investigate retinal and choroidal changes in Huntingtons disease and to evaluate any potential correlation with the stage of the disease.

A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome

BackgroundEnhanced S-cone syndrome (ESCS) is an autosomal recessive retinal disorder characterized by an increased number of S-cones over L/M cones and rods. Mutations in the NR2E3 gene, encoding a photoreceptor-specific nuclear receptor, are identified in patients with ESCS. The purpose of this study is to report the ophthalmic features of a 25-year-old Portuguese male with a typical ESCS phenotype and a novel homozygous NR2E3 mutation.MethodsThe patient underwent a detailed ophthalmic examination including fundus photography, fluorescein angiography (FAF), fundus autofluorescence imaging (FAI), and spectral domain optical coherence tomography (SD-OCT). Full-field electroretinography (ERG), S-cone ERG, and multifocal ERG were performed. Mutation screening of the NR2E3 gene was performed with polymerase chain reaction amplification and direct sequencing.ResultsThe patient had poor visual acuity but good color vision. Funduscopy showed degenerative changes from the vascular arcades to the midperipheral retina. The SD-OCT revealed macular schisis and cystoid changes that had no fluorescein leakage. The posterior pole showed diffusely increased autofluorescence compared with eccentric areas in both eyes. International-standard full-field ERG showed the typical pathognomonic changes associated with ESCS and the short-wavelength flash ERG was simplified, delayed, and similar to the standard photopic flash ERG. Multifocal ERG showed widespread delay and reduction. Genetic analysis revealed a novel homozygous mutation (p.C83Y), which resides in the second zinc finger of the DNA-binding domain.ConclusionsThis homozygous mutation is likely to affect binding to target DNA sites, resulting in a non-functional behavior of NR2E3 protein. It is associated with a typical form of ESCS with a nondetectable rod response and reduced/delayed mfERG responses at all eccentricities.

RetinaCAD, a system for the assessment of retinal vascular changes

This paper introduces RetinaCAD, a system, for the fast, reliable and automatic measurement of the Central Retinal Arteriolar Equivalent (CRAE), the Central Retinal Venular Equivalent (CRVE), and the Arteriolar-to-Venular Ratio (AVR) values, as well as several geometrical features of the retinal vasculature. RetinaCAD identifies important landmarks in the retina, such as the blood vessels and optic disc, and performs artery/vein classification and vessel width measurement. The estimation of the CRAE, CRVE and AVR values on 480 images from 120 subjects has shown a significant correlation between right and left eyes and also between images of same eye acquired with different camera fields of view. AVR estimation in retinal images of 54 subjects showed the lowest values in people with diabetes or high blood pressure thus demonstrating the potential of the system as a CAD tool for early detection and follow-up of diabetes, hypertension or cardiovascular pathologies.

Acute posterior multifocal placoid pigment epitheliopathy presenting with multiple brain and spinal cord infarctions.

•APMPPE is a rare condition preferentially affecting young adults.•It presents as blurred vision, central or paracentral scotomas or metamorphopsia.•Diagnosis is based on fundoscopy evaluation and confirmed by fluorescein angiogram.•Spinal cord infarction may be a rare APMPPE neurological complication.

Retinal Nerve Fiber Layer Thickness Analysis with Optical Coherence Tomography in Wolfram Syndrome

Retinal Nerve Fiber Layer Thickness Analysis with Optical Coherence Tomography in Wolfram Syndrome Purpose: To evaluate the peripapillary retinal nerve fiber layer (RNFL) in Wolfram’s Syndrome (WS) using optical coherence tomography (OCT). Methods: The peripapillary RNFL of eighteen eyes of nine patients with the clinical diagnosis of WS were measured using Stratus OCT. The RNFL was determined consecutively three times. Results: The mean RNFL thickness is inferior to the 99% normal limit given by the instrument´s normative database in all patients. The superior and inferior quadrants were beneath the 99% normal limit in every patient. The nasal quadrant was at the level 1-5% in 37.0% of the measurements and at the level 5-95% in 3.7%. The temporal quadrant was at the level 1-5% in 13.0% of the measurements and at the level 5-95% in 5.5%. Conclusion: In our series, there is an overall decrease of the RNFL thickness. The nasal and temporal quadrants were the least affected. This is the first time that this characteristic of the disease is described. Understanding the pattern of RNFL damage can be important clinically to differentiate WS from other causes of hereditary optic atrophy that have distinct patterns of RNFL loss. This provides further insight in the lesion pattern and pathophysiology of the disease.

Automatic Characterization of the Serous Retinal Detachment Associated with the Subretinal Fluid Presence in Optical Coherence Tomography Images

Abstract An accurate detection of the macular edema (ME) presence constitutes a crucial ophthalmological issue as it provides useful information for the identification, diagnosis and treatment of different relevant ocular and systemic diseases. Serous Retinal Detachment (SRD) is a particular type of ME, which is characterized by the leakage of fluid that has a propensity of being accumulated in the macular region. This paper proposes a new methodology for the automatic identification and characterization of the SRD edema using Optical Coherence Tomography (OCT) images. The subretinal fluids and the External Limiting Membrane (ELM) retinal layers are identified and characterized to measure the disease severity. Four different visualization modules were designed including representative derived parameters to facilitate the doctor’s work in the diagnostic evaluation of ME. The different steps of this method were validated using the manual labelling provided by an expert clinician. The validation of the proposed method offered satisfactory results, constituting a suitable scenario with intuitive visual representations that also include different relevant biomarkers.

Early Longitudinal Spectral Domain Optical Coherence Tomography Findings in Subacute Sclerosing Panencephalitis

Subacute sclerosing panencephalitis is a progressive neurodegenerative disorder of childhood and young adolescence caused by a reactivation of latent measles infection (subacute sclerosing panencephalitis virus). It frequently has devastating consequences, ultimately leading to death in most patients (95%) within 5 years.1 Ocular disease affects 10% to 50% of patients and leads to significative visual loss.2 A 25-year-old white man, with previous history of measles at 6 months of age (before vaccination), was referred to our department with a 5-day history of sudden onset of acute unilateral visual loss (counting fingers). Two weeks later, the vision in the fellow eye started to decline and rapidly dropped from 20/20 to counting fingers in 3 days. Right eye fundoscopy disclosed progressive atypical macular pigmentary changes but no anterior chamber inflammation, vitritis, or optic nerve changes (Figure 1). Daily sequential spectral domain optical coherence tomography revealed a very rapid Fig. 1. Right-eye sequential color fundus photography. At baseline (A), the retina and optic disk were normal. Color fundus photographs showed rapidly progressive areas of retinal necrosis at the posterior pole on the second (B), fourth (C), and 16th day (D). At 1 month (E), there was optic and diffuse retinal atrophy with ghost vessels.

Combined treatment with intravitreal bevacizumab and laser photocoagulation for exudative maculopathy in facioscapulohumeral muscular dystrophy

ABSTRACT Purpose: To report a rare case of exudative maculopathy in a patient with facioscapulohumeral muscular dystrophy (FSHD), and its management. Methods: Observational case report. Results: A 62-year-old man with genetically confirmed FSHD was referred to our department complaining of decreased visual acuity in his left eye. At presentation, right eye examination was unremarkable and best-corrected visual acuity (BCVA) was 20/20. Left eye BCVA was 20/100 and it presented a dense cataract with the evidence of macular lipid exudation. Cataract surgery combined with intravitreal bevacizumab improved BCVA to 20/20. Postoperative fundus examination disclosed focal macular retinal microvascular dilations with lipid exudation inferotemporal to the fovea. Fluorescein angiography highlighted these macular telangiectatic abnormalities but no peripheral lesions were detected. Spectral domain optical coherence tomography (SD-OCT) showed mild temporal retinal thickening, sparing the fovea. A diagnosis of exudative maculopathy due to macular telangiectasia secondary to FSHD was established. One year later, his left eye vision dropped to 20/32 and macular SD-OCT showed an aggravation of the intraretinal fluid and exudation. He was then submitted to a second intravitreal injection of bevacizumab followed by one angio-guided focal laser photocoagulation session, with a significant improvement. Twelve months later, his BCVA remained 20/20 on both eyes with no recurrence of exudation. Conclusion: The present work shows that in cases of visual-threatening macular exudation, intravitreal anti-vascular endothelial growth factor injections combined with focal laser photocoagulation may be a safe and effective treatment. This article also highlights that all FSHD patients should be screened for asymptomatic retinal vascular disorders.

3D Mapping of Choroidal Thickness from OCT B-Scans

The choroid is the middle layer of the eye globe located between the retina and the sclera. It is proven that choroidal thickness is a sign of multiple eye diseases. Optical Coherence Tomography (OCT) is an imaging technique that allows the visualization of tomographic images of near surface tissues like those in the eye globe. The automatic calculation of the choroidal thickness reduces the subjectivity of manual image analysis as well as the time of large scale measurements.