Search

AIM: To identify the disease-causing mutation in a four-generation Chinese family diagnosed with Nance-Horan syndrome (NHS). METHODS: A Chinese family, including four affected patients and four healthy siblings, was recruited. All family members received ophthalmic examinations with medical histories provided. Targeted next-generation sequencing approach was conducted on the two affected males to screen for their disease-causing mutations. RESULTS: Two male family members diagnosed with NHS manifested bilateral congenital cataracts microcornea, strabismus and subtle facial and dental abnormalities, while female carriers presented posterior Y-sutural cataracts. A novel frameshift mutation (c.3916_3919del) in the NHS gene was identified. This deletion was predicted to alter the reading frame and generate a premature termination codon after a new reading frame. CONCLUSION: The study discovers a new frameshift mutation in a Chinese family with NHS. The findings broaden the spectrum of NHS mutations that can cause NHS in Chinese patients.

AIM: To observe the clinical effect of 25G vitrectomy combined with inner limiting membrane(ILM)peeling in the treatment of severe proliferative diabetic retinopathy(PDR)with macular displacement.METHODS: Clinical data of 36 cases(36 eyes), diagnosed as severe proliferative diabetic retinopathy with macular displacement in Jiangsu Province Hospital were collected. Eighteen cases admitted from January to December 2016 were included in the control group(18 eyes, treated by 25G vitrectomy), while 18 cases admitted from January to December 2017 were included in the combined group(18 eyes, treated by 25G vitrectomy with ILM peeling). Best corrected visual acuity(BCVA), intraocular pressure(IOP), complications, and the thickness of macular center area(CMT)were examined during follow-up at 7d, 1mo, 3mo and 6mo postoperative.RESULTS: BCVA showed a significant improvement at postoperative 6mo compared with baseline in both groups (PPP=1.000).CONCLUSION: In the treatment of severe PDR with macular displacement, 25G vitrectomy combined with ILM peeling can effectively and safely improve visual acuity and reduce the thickness of macular center area.

"AIM: To introduce a new method for suprachoroidal fluid drainage before 23-gauge pars plana vitrectomy. METHODS: A 15º side-port blade was firstly used to create a sclerotomy into the suprachoroidal space for initial drainage. A 30-guage needle was then applied to inject balanced saline solution through the existing sclerotomy for further drainage. After most of the suprachoroidal fluid was drained, standard 3-port 23-guage pars plana vitrectomy was performed. RESULTS: We have succeeded in using this technique to treat five patients with retinal detachment and kissing choroidal detachment (KCD). The choroidal detachment was visibly recessed in all cases after drainage with no intraoperative complications. After removal of silicon oil at 3mo follow-up, all patients obtained a reattached retina. No postoperative complications such as hypotony and endophthalmitis occurred. CONCLUSION: The new technique is efficient and safe for suprachoroidal fluid drainage for patients with rhegmatogenous retinal detachment. In future, further larger series are needed to attest to its safety and efficacy."

AIM: To observe and analyze the safety and clinical efficacy of full-thickness scleral incision and in situ paracentesis in the treatment of patients with coexisting rhegmatogenous retinal detachment and choroidal detachment using minimally invasive vitrectomy. METHODS: From April 2015 to April 2017, 20 patients(20 eyes)with coexisting rhegmatogenous retinal detachment and choroidal detachment who were treated in Department of Ophthalmology, Jiangsu Province Hospital were enrolled in this retrospective analysis. All patients received modified scleral puncture drainage combined with 23G minimally invasive vitrectomy. This study analyzed and compared intraoperative paracentesis success rate, the incidence of intraoperative, postoperative visual acuity, intraocular pressure, and postoperative retinal reattachment rate. RESULTS: Suprachoroidal fluid from all patients were drainaged successfully. Compared with preoperative conditions, the postoperative visual acuity was significantly improved(PPCONCLUSION: The modified scleral puncture surgery in the treatment of patients with coexisting rhegmatogenous retinal detachment and choroidal detachment in 23G vitrectomy has great clinical effects. It not only simplifies the procedure of operation, but also reduces the difficulty and complication of operation.

Letter to the editor