A novel splice site mutation of CRYBA3/A 1 gene associated with congenital cataract in a Chinese family

AIM： To identify the disease-causing mutation responsible for the presence of congenital cataract in a Chinese family. METHODS： The study recruited a four-generation Chinese pedigree affected by autosomal dominant congenital cataract （ADCC）. Family history and the history of cataract extraction were recorded. Blood samples were collected from individuals for DNA extraction. Direct sequencing of congenital cataract-associated genes was performed. Single-strand conformational polymorphism and bioinformatic analysis were conducted to further study the mutation. RESULTS： Direct sequencing revealed a novel splice site mutation of c.30-2 A〉G in the CRYBA3/A1 gene. The mutation co-segregated within all affected individuals in the family and was not found in unaffected members or 100 unrelated normal controls. These results were further confirmed by single-strand conformational polymorphism and bioinformatic analysis using the Human Splicing Finder and MaxEnt online software and Annovar computer software. CONCLUSION： c,30-2 A〉G mutation of CRYBA3/A1 gene is a novel mutation and broadens the genetic spectrum of ADCC, KEYWORDS： splice site mutation; congenital cataract; CRYBA3/A1 gene

Small incision lenticule extraction and femtosecond-assisted laser in situ keratomileusis in patients with deep corneal opacity:case series

AIM:To report the safety,efficacy,and accuracy of small-incision lenticule extraction(SMILE)or femtosecondassisted laser in situ keratomileusis(FS-LASIK)for the correction of myopia or myopic astigmatism in patients with deep corneal opacity denoted by anterior segment optical coherence tomography(AS-OCT).METHODS:Four patients with monocular corneal opacity(3 due to mechanical injury,1 due to a firecracker wound)were recruited and treated with refractive surgery(3 for SMILE,1 for FS-LASIK combined with limbal relaxing incision(LRI).Preoperative ocular manifestations,surgical details,postoperative visual outcomes,corneal opacity parameters,and corneal topography were analyzed.RESULTS:Preoperatively,spherical diopter ranged from-3.0 D to-4.75 D with cylinder ranging from-0.75 to-5.0 D,and corrected distance visual acuity(CDVA)ranging from 20/25 to 20/20.One eye’s corneal opacity was located in the central zone and three were in the mid-peripheral optical zone.Three patients underwent uneventful SMILE in both eyes,whilst one patient underwent FS-LASIK for high astigmatism in both eyes and LRI in the right eye.CDVA of the eye with corneal opacity ranged from 20/22to 20/20 one to six weeks postoperatively.Two patients achieved better CDVA and no patients lost Snellen lines.The postoperative diopter was within±0.75 D for all eyes.Significant edema existed above the corneal opacity in one eye and dissipated soon.No eccentric corneal topography or morphological anomaly of the corneal cap or flap was observed.CONCLUSION:The cases demonstrate that SMILE or FS-LASIK is safe and effective to treat myopic astigmatism combined with deep corneal opacity lesions after comprehensive preoperative evaluation and appropriate candidate selection.FS-LASIK combined with LRI is also sufficient for correcting high astigmatism due to corneal scarring.

Amniotic membrane transplantation for porous sphere orbital implant exposure

Objective: This study is aimed at describing the clinical outcome of amniotic membrane transplantation for exposure of porous sphere implants. Methods: A retrospective review of consecutive cases of porous sphere orbital implant exposure was carried out. Eight cases were presented between May 2004 and Oct. 2006 (5 males, 3 females; mean age 44.5 years). Six had enucleation and two had evisceration. Exposure occurred in two primary and six secondary. Orbital implant diameter was 22 mm in seven cases and 20 mm in one case. Six patients are with hydroxyapatite and two with high-density porous polyethylene (Medpor) orbital implants. The mean time from implantation to exposure was 1.1 months (range 0.8~2 months). All patients required surgical intervention. Results: The time of follow-up ranged from 3.0 to 28.0 months (mean 16.5 months). Amniotic membrane grafting successfully closed the defect without re-exposure in all of these patients. The grafts were left bare with a mean time to conjunctiva of about 1 month (range 0.8~1.5 months). Conclusion: Exposed porous sphere implants were treated suc-cessfully with amniotic membrane graft in all of patients. The graft is easy to harvest. This technique is useful, dose not lead to prolonged socket inflammation and infection, and it is valuable application extensively.

High density porous polyethylene material (Medpor) as an unwrapped orbital implant

Objective: To introduce the clinical effect among patients who received an unwrapped orbital implant with high density porous polyethylene material (Medpor) after enucleation or evisceration. Methods: Retrospective analysis of a series of 302 patients with anophthalmia who underwent placement of an unwrapped high density porous polyethylene orbital implant. We compared the patients (n=180) who accepted primary implant placement with those (n=122) who accepted secondary implant placement. Parameters evaluated included: age at time of surgery, date of surgery, sex, implant type and size, surgery type, the surgical procedure and technique performed, and complications. Results: The time of follow-up ranged from 2.0 to 58.0 months (mean 32.5 months). A total of 5 of 302 (1.66%) cases had documented postoperative complications. The following problems were noted after surgery: implant exposure, 3 patients (0.99%); implant removed due to orbital infection, 1 patient (0.34%); ptosis, 1 patient (0.34%). There were no significant complications observed in other 297 cases and all implants showed good orbital mo- tility. The clinical effect of primary implant placement is better than that of secondary placement. Conclusion: High density porous polyethylene material can be used successfully as an unwrapped orbital implant in anopthalmic socket surgery with minimal complications. The material is well tolerated, nonantigenic and has low rate of infection and migration.