RESUMEN
BACKGROUND: Mutations in PDE6A and PDE6B are known to cause autosomal recessive RP in humans, On the other hand, mutations in PDE6G are rare but can lead to severe early-onset RP. CASE PRESENTATION: An 8-year-old Chinese boy was referred to our hospital for poor vision issues. Refraction with cycloplegia showed high hyperopia with astigmatism both eyes. Funduscopic examination revealed typical bone spicule-type pigment deposits in the periphery and midperiphery. The patient was given glasses and a whole exome sequencing containing mitochondrial genes was performed. The results of genetic testing showed that there was a heterozygous frameshift mutation and a segment deletion in the proband's PDE6G gene. Analysis of the parental genes showed that frameshift mutation was inherited from the proband's mother and segment deletion from his father. CONCLUSIONS: In this paper, we give a firsthand report that the complex heterozygous mutations of PDE6G gene can causes autosomal recessiveRP (arRP), which expands the understanding of the pathogenic genes of RP.
Asunto(s)
Fosfodiesterasas de Nucleótidos Cíclicos Tipo 6 , Retinitis Pigmentosa , Humanos , Masculino , Fosfodiesterasas de Nucleótidos Cíclicos Tipo 6/genética , Niño , Retinitis Pigmentosa/genética , Retinitis Pigmentosa/diagnóstico , Linaje , Análisis Mutacional de ADN , Mutación , Mutación del Sistema de Lectura , Tomografía de Coherencia Óptica , Agudeza Visual , Secuenciación del ExomaRESUMEN
PURPOSE: To assess 2-year endothelial cell loss and graft survival after femtosecond laser semi-assisted Descemet stripping endothelial keratoplasty (FLS-DSEK). METHODS: In this prospective and noncomparative study carried out at Eye Hospital of Shandong First Medical University, 85 eyes (84 patients) with endothelial dysfunction receiving FLS-DSEK (n=62, 75.9%) or FLS-DSEK combined with phacoemulsification cataract surgery and intraocular lens implantation (n=23, 27.1%) from 2013 through 2016 were included. The graft endothelial cell loss, endothelial graft thickness, visual acuity, and complications after surgery were evaluated. RESULTS: Thin endothelial grafts were all successfully prepared, with no occurrence of perforation. The rate of endothelial cell loss was 17.4%, 18.8%, 19.9%, and 26.7%, and the central graft thickness was 113±54 µm, 102±40 µm, 101±28 µm, and 96±23 µm at 3, 6, 12, and 24 months, respectively. The median best-corrected visual acuity was 0.4 logMAR (range, 0-2 logMAR) at 24 months, demonstrating a significant difference from that before surgery (2 logMAR; range, 0.2-3 logMAR) (T=187.5, P<.001). Partial graft dislocation was the most common postoperative complication, with an occurrence rate of 14% (n=12), and it was associated with an abnormal iris-lens diaphragm (r=.35, P<.001). The other complications included a high intraocular pressure (n=5, 6%), endothelial graft rejection (n=4, 5%), and pupillary block (n=1, 1%). Endothelial graft decompensation occurred in the two eyes, and 98% (n=83) of the grafts survived at 24 months. CONCLUSIONS: Data of the study suggest that the treatment using FLS-DSEK seems to be promising and might be considered a feasible choice in patients with endothelial dysfunction. TRIAL REGISTRATION: 1. Date of registration: 2021-02-18 2. TRIAL REGISTRATION NUMBER: ChiCTR2100044091 3. Registration site: https://www.chictr.org.cn/.