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- Doença de Graves associada à artrite idiopática juvenilPublication . Marques, VM; Dias de Carvalho, SC; Antunes, AM; Pinho-Marques, OA; Fernandes-Silva, MH; Costa-Vieira, MJThe authors report the case of a 10-year-old girl with Graves' disease (GD), treated with propylthiouracil, who developed uveitis and polyarticular arthritis, and whose mother also had GD and discoid lupus. The differential diagnosis of inflammatory arthritis that appears in a child with autoimmune thyroid disease managed with antithyroid drugs is discussed.
- Automatic localization of the optic disc by combining vascular and intensity informationPublication . Mendonça, AM; Sousa, A; Mendonça, L; Campilho, AThis paper describes a new methodology for automatic location of the optic disc in retinal images, based on the combination of information taken from the blood vessel network with intensity data. The distribution of vessel orientations around an image point is quantified using the new concept of entropy of vascular directions. The robustness of the method for OD localization is improved by constraining the search for maximal values of entropy to image areas with high intensities. The method was able to obtain a valid location for the optic disc in 1357 out of the 1361 images of the four datasets.
- Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 familiesPublication . Sá, MJ; Storey, H; Flinter, F; Nagel, M; Sampaio, S; Castro, R; Araújo, JA; Gaspar, MA; Soares, C; Oliveira, A; Henriques, AC; Costa, AG; Abreu, CP; Ponce, P; Alves, R; Pinho, L; Silva, SE; Moura, CP; Mendonça, L; Carvalho, FPathogenic mutations in genes COL4A3/COL4A4 are responsible for autosomal Alport syndrome (AS) and thin basement membrane nephropathy (TBMN). We used Sanger sequencing to analyze all exons and splice site regions of COL4A3/COL4A4, in 40 unrelated Portuguese probands with clinical suspicion of AS/TBMN. To assess genotype-phenotype correlations, we compared clinically relevant phenotypes/outcomes between homozygous/compound heterozygous and apparently heterozygous patients. Seventeen novel and four reportedly pathogenic COL4A3/COL4A4 mutations were identified in 62.5% (25/40) of the probands. Regardless of the mutated gene, all patients with ARAS manifested chronic renal failure (CRF) and hearing loss, whereas a minority of the apparently heterozygous patients had CRF or extrarenal symptoms. CRF was diagnosed at a significantly younger age in patients with ARAS. In our families, the occurrence of COL4A3/COL4A4 mutations was higher, while the prevalence of XLAS was lower than expected. Overall, a pathogenic COL4A3/COL4A4/COL4A5 mutation was identified in >50% of patients with fewer than three of the standard diagnostic criteria of AS. With such a population background, simultaneous next-generation sequencing of all three genes may be recommended as the most expedite approach to diagnose collagen IV-related glomerular basement membrane nephropathies.
- Normative Database of Optical Coherence Tomography Parameters in ChildhoodPublication . Queirós, T; Freitas, C; Guimarães, SINTRODUCTION: Optical coherence tomography is a technology that allows obtaining high resolution images of tissues in vivo, enabling the measurement of ocular structures, including the retinal nerve fiber layer and macular thickness. As a noninvasive test itâÄôs particularly useful in children, but its applicability is limited by the existence of normative values for adults only. PURPOSE: To establish the pediatric normative values of retinal nerve fiber layer thickness and macular thickness and to investigate its relationship with sex, age, refraction, eye side and ocular dominance. MATERIAL AND METHODS: Ophthalmologic examination and Cirrus HD-optical coherence tomography (Carl Zeiss Meditec) were carried out on 153 children aged 4 to 17 years old. RESULTS: We obtained a mean retinal nerve fiber layer average thickness of 97.90 μm. No significant differences were detected between genders, however the eye side and ocular dominance had significant influence on retinal nerve fiber layer thickness. Retinal nerve fiber layer thickness increased significantly with more positive refraction. With the Macular Cube 512 x 128 protocol we found that the average central subfield showed the smallest thickness (250.35 μm) and boys had higher macular thickness. DISCUSSION: The values of the retinal nerve fiber layer thickness and macular thickness obtained are comparable to recent studies. The distribution of retinal nerve fiber layer thickness in quadrants is in agreement with the normal distribution of retinal nerve fiber layer. Macular thickness proved to be higher in males (center field and inner ring), data consistent with previous studies. CONCLUSION: We establish the normative retinal nerve fiber layer thickness and macular thickness in healthy Portuguese children. These data enhance the evaluation and interpretation of parameters obtained by optical coherence tomography in the diagnosis of pediatric disorders in clinical practice.
- Comprometimento Visual com Dano Macular Mínimo numa Lesão Causada por Laser de FemtosegundoPublication . Ferreira-Mendes, J; Freitas, C; Gentil, RThe authors describe the case of a 26-year-old female patient with a history of bilateral central scotomas which has lasted 24 hours, which appeared after an injury caused by a plasma laser for the production of nanoparticles. The ophthalmologic assessment including observing the ocular fundis in mydriasis, fluorescein angiography and optical coherence tomography (OCT). In a first assessment, the visual acuity of the right eye was 20/20 and the left eye was 20/25. Foveal pigmentary alterations were observed in the macula of both eyes. Bilaterally, the OCT revealed a central interruption of the photoreceptor layer; the fluorescein angiography was normal. In subsequent assessments, the visual acuity was always 20/20 bilaterally. The abnormal findings observed in the OCT disappeared in less than five months, despite continued subjective complaints of scotomas in the left eye.
- Application of different Scheimpflug-based lens densitometry methods in phacodynamics predictionPublication . Faria-Correia, F; Lopes, BT; Ramos, IC; Monteiro, T; Franqueira, N; Ambrósio, RPURPOSE: To evaluate the correlations between preoperative Scheimpflug-based lens densitometry metrics and phacodynamics. METHODS: The Lens Opacities Classification System III (LOCS III) was used to grade nuclear opalescence (NO), along with different methods of lens densitometry evaluation (absolute scale from 0% to 100%): three-dimensional (3D), linear, and region of interest (ROI) modes. Cumulative dissipated energy (CDE) and total ultrasound (US) time were recorded and correlated with the different methods of cataract grading. Significant correlations were evaluated using Pearson or Spearman correlation coefficients according to data normality. RESULTS: A positive correlation was detected between the NO score and the average density and the maximum density derived from the 3D mode (r=0.624, P<0.001; r=0.619, P<0.001, respectively) and the ROI mode (r=0.600, P<0.001; r=0.642, P<0.001, respectively). Regarding the linear mode, only the average density parameter presented a significant relationship with the NO score (r=0.569, P<0.001). The 3D-derived average density and maximum density were positively correlated with CDE (rho =0.682, P<0.001; rho =0.683, P<0.001, respectively) and total US time (rho =0.631 and rho =0.668, respectively). There was a linear relationship between the average density and maximum density of the ROI mode and CDE (rho =0.686, P<0.001; rho =0.598, P<0.001, respectively) and total US time (rho =0.642 and rho =0.644, respectively). The average density was the only parameter derived from the linear mode that showed a significant correlation with CDE (rho =0.522, P<0.001) and total US time (rho =0.450, P<0.001). CONCLUSION: Specific Scheimpflug-derived densitometric parameters of the nucleus correlated with phacoemulsification parameters. The use of the appropriate densitometry approach can predict more efficiently the phacodynamics.
- Scheimpflug lens densitometry and ocular wavefront aberrations in patients with mild nuclear cataractPublication . Faria-Correia, F; Lopes, B; Monteiro, T; Franqueira, NC; Ambrósio, RPURPOSE: To test correlations between Scheimpflug optical densitometry and ocular higher-order aberrations (HOAs) in patients with mild nuclear cataract. SETTING: Cornea and Refractive Surgery Department, Hospital de Braga, Braga, Portugal. DESIGN: Retrospective single-center study. METHODS: In eyes with mild nuclear cataract, lens densitometry was evaluated by Scheimpflug imaging (Pentacam HR), which provided an objective quantification (mean density and maximum density) and grading (nuclear staging score) of the crystalline lens. A visual function analyzer that combines ray-tracing aberrometry and Placido disk-based topography (iTrace) was used to evaluate the total ocular and internal HOAs. RESULTS: The study comprised 40 eyes of 30 patients. The mean density of the lens nucleus was 8.99% ± 0.76% (SD) (range 7.5% to 10.8%), and the mean maximum density was 27.96% ± 6.97% (range 16.9% to 56.1%). Regarding the score of nuclear staging of the Scheimpflug device, 28 eyes had level 0 and 12 eyes had level 1. Significant positive correlations were found between the mean density and maximum density parameters and the internal HOAs (ρ = 0.661, P < .001 and ρ = 0.570, P < .001, respectively). CONCLUSIONS: There were significant correlations between the quantification parameters derived from Scheimpflug lens densitometry and ocular HOAs. The integration of these technologies can help in clinical decision making and in understanding the subjective symptoms of patients with mild nuclear cataracts. FINANCIAL DISCLOSURE: Dr. Ambrósio is a consultant to Oculus Optikgeräte GmbH, Alcon Surgical, Inc., and Carl Zeiss Meditec AG. None of the other authors has a financial or proprietary interest in any material or method mentioned.
- Corneal biomechanics: Where are we?Publication . Luz, A; Faria-Correia, F; Salomão, MQ; Lopes, BT; Ambrósio, R
- Eyelid Edema: A Rare Cause of a Common SignPublication . Soares, A; Almeida, C; Freitas, C; Sales-Sanz, M; Ribeiro, SWe report a 48-year-old female patient who presented to the emergency room with right eyelid edema, with 3 days of evolution. She had suffered minor trauma to this eye one week before. She reported episodes of right eyelid swelling of spontaneous resolution since the occurrence of a traumatic brain injury 5 years ago. Ophthalmological examination showed a soft and painless eyelid edema of the right eye. Brain computed tomography showed an area of bone discontinuity of the orbital roof with brain herniation and a CSF leak into the eyelid (blepharocele). Magnetic resonance confirmed the result of TC and revealed an area of frontal encephalomalacia. Ibuprofen (800 mg/day) was prescribed, with complete resolution within 20 days. She was evaluated by Neurosurgery with no indication of surgery due to the resolution of the edema and absence of symptoms. Blepharocele is a rare entity that should be considered in the differential diagnosis of unilateral eyelid edema. It can be secondary to an orbital fracture or congenital lesion.
- Systemic intravenous abciximab: a novel treatment for acute central retinal artery occlusion?Publication . Mendes, JF; Amorim, J; Calvão-Santos, G