In Vivo Evaluation of the Biomechanical Properties of Optic Nerve and Peripapillary Structures by Ultrasonic Shear Wave Elastography in Glaucoma.

BACKGROUND: Primary open-angle glaucoma is a multifactorial serious disease characterized by progressive retinal ganglion cell death and loss of visual field. OBJECTIVES: The purposes of this study were to investigate shear wave elastography (SWE) use in the evaluation of the optic nerve (ON) and peripapillary structures, and to compare the findings between glaucomatous and control eyes. PATIENTS AND METHODS: A case-controlled study, including 21 patients with primary open-angle glaucoma and 21 age-matched control subjects, was carried out. All of the participants had comprehensive ophthalmological exams that included corneal biomechanical measurements with ocular response analyzer. In vivo evaluation of the biomechanical properties of the ON and peripapillary structures were performed with SWE in all participants. The Kolmogorov-Smirnov test was used to analyze the normal distribution of data. Differences of parameters in ophthalmologic data and stiffness values of patients with and without glaucoma were evaluated using the Mann-Whitney U test. RESULTS: There were no statistically significant differences between the glaucoma and control groups in terms of age (P > 0.05) and gender (P > 0.05). Corneal hysteresis was lower in the glaucoma group (P < 0.05). Corneal compensated intraocular pressure and Goldmann correlated intraocular pressure were higher in the glaucoma group (P < 0.0001 for both). The mean stiffness of the ON and peripapillary structures were significantly higher in glaucoma patients for each measured region (P < 0.05). CONCLUSION: The study evaluated the biomechanical properties of the ON and peripapillary structures in vivo with SWE in glaucoma. We observed stiffer ON and peripapillary tissue in glaucomatous eyes, indicating that SWE claims new perspectives in the evaluation of ON and peripapillary structures in glaucoma disease.

Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene.

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by excess sweating induced by cold exposure, camptodactyly and kyphoscoliosis. CISS is genetically heterogeneous. Deficiency of the CRLF1 or the CLCF1 gene function results in one of two clinically indistuinguishable disorders called CISS1 and CISS2, respectively. We present two Turkish brothers (22 and 13 years old) who had excess sweating induced by cold exposure, severe dorsal scoliosis, camptodactyly, reduced pain sensitivity and marfanoid habitus. The patients were homozygous and their parents heterozygous for a novel missense mutation c.413C>T (p.Pro138Leu) in CRLF1 gene. The cranial magnetic resonance imaging (MRI) of two patients also showed multiple small hyperintense lesions in the subcortical white matter. Similar MRI finding has also been reported in a Japanese woman with CISS1 and marfanoid habitus. The lesions found in the present cases showed no characteristic features. However, multiple small hyperintense lesions in subcortical white matter on T2 weighted and fluid attenuation inversion recovery (FLAIR) images may support the clinical diagnosis of CISS.