Purpose. To describe a clinical case of mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, with fundoscopic alterations that may correspond to scleral deposits of glycosaminoglycans. Materials and Methods. Clinical case report. Results. A 16-year-old girl with MPS VI was examined at the Ophthalmology Department for poor vision due to opacified corneas. Treatment consisted of bilateral penetrating keratoplasty. Retinographies and enhanced depth imaging optical coherence tomography (EDI-OCT) were performed after surgery, suggesting the presence of scleral glycosaminoglycan deposits. The patient evolved with stable corneal and fundoscopic findings. Conclusions. To our knowledge, this is the first case of MPS VI described in vivo with suspected deposits of glycosaminoglycans in the sclera. Fundoscopic alterations are not usually included in the ocular pathological spectrum of MPS VI. However, with improved control of systemic comorbidities, survival rates of these patients have increased, which in turn has made it possible to observe other changes besides the ones that were classically described. Despite being particularly challenging to manage, efforts should be made to maximizing the visual acuity of these patients, in order to provide them the best possible quality of life.
Purpose
To evaluate complete blood count (CBC) parameters in the first week of life as predictive biomarkers for the development of retinopathy of prematurity (ROP).
Methods
Multicenter, prospective, observational study of a cohort of preterm infants born with gestational age (GA) < 32 weeks or birth weight < 1500 g in eight Portuguese neonatal intensive care units. All demographic, clinical, and laboratory data from the first week of life were collected. Univariate logistic regression was used to assess risk factors for ROP and then multivariate regression was performed.
Results
A total of 455 infants were included in the study. The median GA was 29.6 weeks, and the median birth weight was 1295 g. One hundred and seventy-two infants (37.8%) developed ROP. Median values of erythrocytes (p < 0.001), hemoglobin (p < 0.001), hematocrit (p < 0.001), mean corpuscular hemoglobin concentration (p < 0.001), lymphocytes (p = 0.035), and platelets (p = 0.003) of the group of infants diagnosed with ROP any stage were lower than those without ROP. Mean corpuscular volume (MCV) (p = 0.044), red blood cell distribution width (RDW) (p < 0.001), erythroblasts (p < 0.001), neutrophils (p = 0.030), neutrophils-lymphocytes ratio (p = 0.028), and basophils (p = 0.003) were higher in the ROP group. Higher values of MCV, erythroblasts, and basophils remained significantly associated with ROP after multivariate regression.
Conclusion
In our cohort, the increase in erythroblasts, MCV, and basophils in the first week of life was significantly and independently associated with the development of ROP. These CBC parameters may be early predictive biomarkers for ROP.
Purpose. To evaluate the efficacy of the “fogging test,” performed with a +2 diopters (D) lens, in the exclusion of clinically significant hyperopia in school-aged children. Methods. We studied 54 children between 5 and 11 years of age, with 10/10 best-corrected bilateral visual acuity (VA) without significant degree of correction. VA was assessed in each eye with a “bilateral” +2 D sphere over-refraction followed by cycloplegic retinoscopy. The capacity of the test to detect hyperopia of ≥+2 D and ≥+1.5 D was evaluated by examining the respective receiver operating characteristic (ROC) curves and sensitivity and specificity values for different cutoff values of VA. Results. For the detection of hyperopia ≥+2 D, the area under the ROC curve (AUC) was 0.955 (p≤0.001). The VA cutoff with best discriminative capacity was ≥5/10, with a sensitivity of 100%, specificity of 79%, positive predictive value (PPV) of 57%, and negative predictive value (NPV) of 100%. In respect of ≥+1.5 D hyperopia, the test capacity was lower (AUC = 0.832; p≤0.001). The best VA cutoff was also of ≥5/10, with a PPV of 81% and a NPV of 85%. Conclusion. The accuracy of the test was high for the evaluation of ≥+2 D hyperopia but lower for ≥+1.5 D hyperopia. For the detection of ≥+2 D hyperopia, the VA cutoff of <5/10 may permit the exclusion of clinically significant hyperopia in selected children, without the need for cycloplegia. For the same cutoff, the PPV was low, meaning that in children with ≥5/10 VA cycloplegic refraction remains obligatory.
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