RESUMO
Brittle cornea syndrome (BCS) is a genetic connective tissue disorder with discernible ocular features such as blue scleral and thin cornea that predominantly presents in younger children. We herein describe cases of three siblings with BCS, two of whom presented to us with open globe injuries following trivial trauma. Clinical examination of the other eye in both showed diffusely thin corneas and blue sclera. A systemic evaluation revealed sensorineural hearing loss and hyperextensible joints. The third sibling was screened and found to have features concurrent with BCS. This report highlights the challenges faced in the management of ocular injuries and consecutive complications in these patients.
Assuntos
Anormalidades do Olho , Instabilidade Articular , Anormalidades da Pele , Criança , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Humanos , Instabilidade Articular/congênito , Instabilidade Articular/etiologia , Instabilidade Articular/genética , Masculino , Irmãos , Anormalidades da Pele/diagnóstico , Anormalidades da Pele/genéticaRESUMO
Purpose: The aim of this study was to analyze the factors associated with hyperreflective foci (HRF) in diabetic macular edema (DME) in treatment naïve eyes. Methods: This retrospective observational study included 131 eyes of 91 treatment naïve patients with DME. Details of ophthalmological examination with duration of vision loss and systemic parameters were noted. The spectral-domain optical coherence tomography (SD-OCT) images were analyzed for number and location of HRF and the associated imaging biomarkers. Results: Inner retinal (IR) HRF were seen in 88 eyes (67%), outer retinal (OR) in 28 (21%), and subretinal (SR) in 12 (9%). The IR had (7.1 ± 7) HRF, the OR (6.5 ± 4.8), and SR (3.9 ± 2.9). A greater proportion of eyes with HRF also had subretinal fluid (SRF), significantly higher blood pressure and lower serum triglycerides. Univariate linear regression analysis showed women (3 HRF greater vs. men, P = 0.04), eyes with cystoid spaces (2.95 more HRF vs. no cystoid spaces, P = 0.02), and SRF (2.96 more HRF vs. no SRF, P = 0.007) had more HRF, whereas higher triglycerides (1 HRF lesser per 50 mg lower TGL, P = 0.03) had lesser. Conclusion: Our study highlights the importance of HRF as an imaging biomarker in DME suggesting an inflammatory origin. Long-term observations of large cohorts with automated analysis can give more insights.