A Study of Histopathologic Evaluation and Clinical Correlation for Isolated Congenital Myogenic Ptosis and Aponeurotic Ptosis.

Abstract

To evaluate light microscopy and transmission electron microscopy findings of levator muscle/aponeurosis materials and their correlation with clinical findings in isolated congenital myogenic and aponeurotic blepharoptosis. Demographic and clinical data were obtained from patients. Qualitative and quantitative evaluations for muscle fiber morphology were performed using light microscopy and transmission electron microscopy on tissue samples which were obtained from the most proximal part of the aponeurosis excised during levator muscle/aponeurosis resection surgery. Seventeen (55%) of the cases were isolated congenital myogenic ptosis, and 14 (45%) were aponeurotic ptosis. Muscle bundle splitting, cytoplasmic loss, and centrally located nuclei were observed in both groups. Muscle tissue covered 25% of the sample in 67% of the cases, 50% in 11%, 75% in 11%, and 100% in 11% in the myogenic group. In the aponeurotic group, muscle tissue covered 25% of the sample in 44.5% of the cases, 50% in 11%, and 100% in 44.5% (χ, p = 0.52). Myofibrillar loss areas accompanied by Z-line disorganization which were occupied by degenerated organelles were present in both groups under transmission electron microscopy, and findings were not significantly different between groups (χ, p > 0.05). Mean mitochondrial diameter was significantly larger in aponeurotic ptosis (Mann-Whitney U, p = 0.047). No correlation was found between functional and microscopic parameters. Decreased amount of striated muscle and the presence of fiber damage indicators were observed in both groups. Muscle fiber loss in myogenic ptosis may be a feature of muscle dysgenesis. Ultrastructural damage in aponeurotic ptosis may be explained with increased oxidative stress or long-term contractile stress. Further genetic and immunohistochemical studies will be helpful to further understand the pathogenesis of diseases.