Background: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and foveoschisis in a consanguineous Spanish family.
Methods: The study involved five family members, consisting of three siblings and their parents. All members underwent comprehensive eye examinations for best corrected visual acuity, axial length and refractive error, electroretinography (ERG), fundus photography, retinal fluorescein angiography (FA), and optical coherence tomography (OCT). Clinical exome sequencing of more than 6,000 clinically relevant genes (SureSelect Focused Exome, Agilent) was performed using the Illumina HiSeq 3000 system. Candidate variants were validated and segregated by Sanger sequencing.
Results: The affected siblings had bilateral shortening of the posterior ocular segment and normal anterior segment dimensions. The fundoscopy, ERG, and FA results were compatible with RP. Macular OCT analysis revealed schisis of the outer retinal layer. Our data analysis pipeline identified a homozygous frameshift mutation in exon 5 of the membrane frizzled-related protein (MFRP) gene (c.498delC; p.Asn167Thrfs*25).
Conclusion: Our study confirmed the association of PM with RP as an autosomal recessive syndrome. Although this has previously been described, it seems that there are some constant (i.e., PM and RP) and some variable features (i.e., optic nerve drusen and foveoschisis). The MFRP mutation has also been detected in other studies associating PM with RP. Analysis of a larger series of cases at the clinical and genetic levels would certainly help us to better understand the phenotype-genotype correlations of this syndrome. 相似文献
The use of suture associated with heterologous fibrin sealant has been highlighted for reconstruction after peripheral nerve injury, having the advantage of being safe for clinical use. In this study we compared the use of this sealant associated with reduced number of stitches with conventional suture after ischiatic nerve injury. 36 Wistar rats were divided into 4 groups: Control (C), Denervated (D), ischiatic nerve neurotmesis (6 mm gap); Suture (S), epineural anastomosis after 7 days from neurotmesis, Suture + Fibrin Sealant (SFS), anastomosis with only one suture point associated with Fibrin Sealant. Catwalk, electromyography, ischiatic and tibial nerve, soleus muscle morphological and morphometric analyses were performed. The amplitude and latency values of the Suture and Suture + Fibrin Sealant groups were similar and indicative of nerve regeneration.The ischiatic nerve morphometric analysis in the Suture + Fibrin Sealant showed superior values related to axons and nerve fibers area and diameter when compared to Suture group. In the Suture and Suture + Fibrin Sealant groups, there was an increase in muscle weight and in fast fibers frequency, it was a decrease in the percentage of collagen compared to group Denervated and in the neuromuscular junctions, the synaptic boutons were reestablished.The results suggest a protective effect at the lesion site caused by the fibrin sealant use. The stitches reduction minimizes the trauma caused by the needle and it accelerates the surgical practice. So the heterologous fibrin sealant use in nerve reconstruction should be considered. 相似文献