RESUMO
Retinitis pigmentosa is a group of progressive inherited retinal dystrophies that may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. In an Indian family suffering from retinitis pigmentosa, we identified a missense variation in CNGA1 affecting the cyclic nucleotide binding domain (CNBD) and characterized a mouse model developed with mutated CNBD. A gene panel analysis comprising 105 known RP genes was used to analyze a family with autosomal-recessive retinitis pigmentosa (arRP) and revealed that CNGA1 was affected. From sperm samples of ENU mutagenesis derived F1 mice, we re-derived a mutant with a Cnga1 mutation. Homozygous mutant mice, developing retinal degeneration, were examined for morphological and functional consequences of the mutation. In the family, we identified a rare CNGA1 variant (NM_001379270.1) c.1525 G > A; (p.Gly509Arg), which co-segregated among the affected family members. Homozygous Cnga1 mice harboring a (ENSMUST00000087213.12) c.1526 A > G (p.Tyr509Cys) mutation showed progressive degeneration in the retinal photoreceptors from 8 weeks on. This study supports a role for CNGA1 as a disease gene for arRP and provides new insights on the pathobiology of cGMP-binding domain mutations in CNGA1-RP.
RESUMO
AIM: The aim of this study is to analyze the postoperative visual outcomes of fibrin glue-assisted, suture-less posterior chamber (PC) intraocular lens (IOL) implantation technique in eyes with inadequate capsule support at a tertiary eye care hospital in South India. SETTING AND DESIGN: This is a retrospective, nonrandomized case series. PATIENTS AND METHODS: This study analyzes 94 eyes which underwent PC-IOL implantation by fibrin glue-assisted, suture-less technique. All patients who had IOL implants by the fibrin glue-assisted PC-IOL technique from August 2009 to January 2014 were included in the study. Intra- and post-operative complications were analyzed. The postoperative best spectacle-corrected visual acuity (BSCVA) was evaluated and recorded at the end of 6 months. STATISTICAL ANALYSIS: The data were analyzed using SPSS version 16.1 (SPSS Inc., Chicago, Illinois, USA) using two sample paired t-test and independent t-test. RESULTS: A total of 94 eyes of 92 patients that underwent glued IOL implantation over a period of 5 years were analyzed. Out of 94 eyes, 77 eyes (84.6%) maintained or improved on their preoperative BSCVA (P = 0.012). CONCLUSION: We conclude that glued IOL implantation is a feasible option in rehabilitating patients with aphakia without adequate capsular support.