Objective: To describe a novel glaucoma drainage device fashioned from a scleral buckle and nasolacrimal silicone tube. Method: This is a case report and a description of a surgical technique. Results: A 6-year-old boy with congenital glaucoma who underwent 2 failed filter surgeries had medically uncontrolled intraocular pressures (IOP). Due to limited funds for a second glaucoma drainage device, the author utilized a portion of a scleral buckle and nasolacrimal silicone tube – the same raw materials used in the Schocket implant – to fashion a novel, non-valved glaucoma shunt that was implanted in the patient’s eye. Post-operatively, IOP was 8-10mmHg. This was sustained for 12 months without the need for supplemental anti-glaucoma medications. Postoperative complications included tube migration resulting in localized corneal decompensation and cataract formation. Conclusion The alternative GDD made from a portion of a scleral buckle and silicone tube may be an effective and economical alternative to the GDDs available in the market.
congenital glaucoma

PURPOSE: To report a case of congenital glaucoma associated with nail-patella syndrome. CASE SUMMARY: A 20-day-old female was referred to our clinic for bilateral intraocular pressure (IOP) elevation and treatment of corneal opacities. Her IOP was 25 mmHg and 30 mmHg in the right and left eyes, respectively. After a diagnosis of congenital glaucoma, bilateral trabeculotomy was performed under general anesthesia. On the first postoperative day, the IOP was 12 mmHg in the right eye and 10 mmHg in the left eye, and remained stable thereafter. The infant was the second of fraternal twins (birth weight of 2.42 kg) and had no family history of any particular disease. During the regular checkup, she was referred to an orthopedic clinic for disorders of the elbow and knee. She presented with a dystrophic thumbnail, patella hypoplasia, elbow hypoplasia, and bilateral triangular protrusions of the lateral iliac crest (iliac horn). Based on the above findings, typical nail-patella syndrome was diagnosed and a mutation in the LMX1B gene was detected. CONCLUSIONS: If glaucoma patients have nail deformities or musculoskeletal abnormalities, nail-patella syndrome should be suspected and a multidisciplinary approach should be conducted.
Anesthesia, General ; Congenital Abnormalities ; Corneal Opacity ; Diagnosis ; Elbow ; Female ; Glaucoma ; Humans ; Infant ; Intraocular Pressure ; Knee ; Musculoskeletal Abnormalities ; Nail-Patella Syndrome ; Orthopedics ; Patella ; Trabeculectomy ; Twins, Dizygotic

BACKGROUNDEarly surgical intervention is required for the primary congenital glaucoma (PCG). There are currently few reports on the surgical outcomes in infants with PCG. This study aimed to evaluate the efficacy and safety of trabeculotomy and the postoperative visual outcomes in Chinese newborns with PCG within 4 weeks of birth.

METHODSA total of 21 eyes of 12 patients with PCG who underwent primary trabeculotomy within 4 weeks of birth were retrospectively studied. Preoperative and postoperative intraocular pressure (IOP), corneal clarity and diameter, axial length and optic disc cupping, visual acuity and postoperative refractive error, success rates, and complications were evaluated. Kaplan-Meier survival analysis was applied to evaluate the success rates.

RESULTSThe mean follow-up time was 46.9 ± 34.4 months (range: 12-122 months). The postoperative IOP was significantly lower than the preoperative IOP at all of the follow-up visits (P < 0.001). The complete success rates for all eyes at 1, 2, 3, and 5 years postoperatively were 90.5%, 85.7%, 85.7%, and 85.7%, respectively. The IOPs of the three patients who needed antiglaucomatous medications postoperatively were also well controlled. At the last visit, the cornea became clear, and the cup-to-disc ratio decreased significantly (P = 0.01) although the horizontal corneal diameter did not change significantly (P = 0.11). Visual acuities were able to be recorded in eight eyes at the last visit, among which six eyes had a best-corrected visual acuity of 20/40 or better. There were no severe intraoperative or postoperative complications.

CONCLUSIONSTrabeculotomy proves to be a safe and effective treatment in reducing IOP in this group of Chinese newborns with PCG. The outcomes of vision function were satisfactory in most of the patients.

Child ; Child, Preschool ; Congenital Abnormalities ; surgery ; Female ; Glaucoma ; surgery ; Humans ; Infant ; Male ; Postoperative Complications ; Retrospective Studies ; Trabeculectomy ; Treatment Outcome

PURPOSE: To compare the surgical results of trabeculectomy and Ahmed glaucoma valve implantation after a previous failed trabeculectomy. METHODS: A retrospective comparative case series review was performed on 31 eye surgeries in 20 patients with primary congenital glaucoma who underwent trabeculectomy or Ahmed glaucoma valve implantation after a previous failed trabeculectomy with mitomycin C. RESULTS: The preoperative mean intraocular pressure was 25.5 mmHg in the trabeculectomy group and 26.9 mmHg in the Ahmed glaucoma valve implantation group (p = 0.73). The 48-month postoperative mean intraocular pressure was 19.6 mmHg in the trabeculectomy group and 20.2 mmHg in the Ahmed glaucoma valve implantation group (p = 0.95). The 12-month trabeculectomy success rate was 69%, compared with 64% for Ahmed glaucoma valve implantation, and the 48-month success rates were 42% and 36% for trabeculectomy and valve implantation, respectively. The success rates following the entire follow-up period were not significantly different between the two groups (p > 0.05 by log rank test). Postoperative complications occurred in 25% of the trabeculectomy-operated eyes and 9% of the Ahmed-implanted eyes (p = 0.38). CONCLUSIONS: There was no significant difference in surgical outcome between the trabeculectomy and Ahmed glaucoma valve implantation groups, neither of which had favorable results. However, the trabeculectomy group demonstrated a higher prevalence of adverse complications such as post-operative endophthalmitis.
Child, Preschool ; Female ; Follow-Up Studies ; Glaucoma/congenital/physiopathology/*surgery ; *Glaucoma Drainage Implants ; Humans ; Infant ; Intraocular Pressure/*physiology ; Male ; Mitomycin/*adverse effects ; Nucleic Acid Synthesis Inhibitors/adverse effects ; Reoperation ; Retrospective Studies ; Time Factors ; Trabeculectomy/*adverse effects/*methods ; Treatment Failure ; Treatment Outcome ; *Visual Acuity

OBJECTIVETo develop an allele-specific PCR (AS-PCR)/restriction fragment length polymorphism (RFLP) assay for CYP1B1 gene haplotypes predisposing to primary congenital glaucoma (PCG).

METHODSTwenty Chinese PCG patients and 20 healthy controls were recruited. Peripheral blood sample was subjected to direct sequencing for common single nucleotide polymorphisms (SNPs) of the CYP1B1 gene. Based on the results, CYP1B1 gene haplotypes were constructed by PCR-RFLP and AS-PCR combined with RFLP.

RESULTSFour SNPs loci were identified by sequencing, which included rs10012 G>C (S1 in exon 2), rs1056827 T/G (S2 in exon 2), rs1056836 C/G (S3 in exon 3) and rs1056837T>C (S4 in exon 3). The distribution of such loci showed different characteristics between the two groups. 50% of the PCG patients had rs10012 G>C and rs1056827 T>G, while 25% of PCG patients had rs1056836 C>G and rs1056837T>C. As for the controls, 25% had rs10012 G>C and rs1056827 T>G, 10% had rs1056836 C>G and rs1056837T>C. None of the SNP loci has presented alone. PCR-RFLP was carried out to confirm the results of SNPs typing, but could not confirm the linkage between the SNP loci. By contrast, AS-PCR combined with RFLP has achieved specific amplification for rs10012 G>C and thorough differentiation of 1056827 T>G polymorphism. Similar results have been obtained by the same method for rs1056836 C>G and rs1056837T>C typing and linkage disequilibrium analysis.

CONCLUSIONThe AS-PCR/RFLP assay has successfully constructed the haplotypes of the CYP1B1 gene. For its accuracy, efficiency and specificity, the method may be used for constructing haplotypes for hereditary disease studies.

Adult ; Aged ; Alleles ; Base Sequence ; Cytochrome P-450 CYP1B1 ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Glaucoma ; congenital ; genetics ; Haplotypes ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; Polymerase Chain Reaction ; methods ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Reproducibility of Results ; Sequence Analysis, DNA ; methods

BACKGROUNDSurgical interventions are the main treatment for primary congenital glaucoma (PCG). This study aimed to compare the efficacy and safety between viscocanalostomy and mitomycin C (MMC)-trabeculectomy in patients with PCG.

METHODSA total number of 43 patients with PCG who underwent either viscocanalostomy (group 1) or MMC- trabeculectomy (group 2) between June 2003 and June 2008 were retrospectively reviewed. The patients' intraocular pressures (IOPs) were examined before surgery and on day 1, week 1, month 1, month 6, and month 12 post-operative. Mean horizontal corneal diameters, success rates, intra- and post-operative complications were compared between the two groups.

RESULTSPre-operative IOPs were (31.96 ± 3.90) mmHg in group 1 and (32.56 ± 4.00) mmHg in group 2. At the last visit, IOPs were (16.78 ± 2.20) mmHg and (15.77 ± 2.60) mmHg, respectively (P < 0.001); the complete success rates of group 1 and group 2 were 45.9% and 67.4%, respectively, and the difference was not statistically significant (P = 0.158). There were no major complications occurred in the two groups.

CONCLUSIONSBoth viscocanalostomy and trabeculectomy can lower IOP in PCG patients effectively. Although there was no major complications occurred in both groups, viscocanlostomy may decrease the probability of postoperative haemorrhage, hypotony, cataract, or choroid effusion.

Female ; Filtering Surgery ; adverse effects ; methods ; Glaucoma ; congenital ; surgery ; Humans ; Infant ; Intraocular Pressure ; Male ; Retrospective Studies ; Trabeculectomy ; adverse effects ; methods

Glaucoma ; congenital ; physiopathology ; surgery ; Humans ; Intraocular Pressure ; Trabeculectomy ; methods

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder that causes congenital glaucoma. Previous experiences have shown that drainage procedures are often required to control associated glaucoma. The conventional surgical approach in trabeculectomy carries a significant risk of intraoperative expulsive hemorrhage. Here, we describe a modified approach of the conventional trabeculectomy technique, which may lower the risk of expulsive hemorrhage. A viscoelastic device was employed to maintain a steady intraocular pressure throughout the procedure. Details of the surgical technique and material used are described. One patient with congenital glaucoma associated with SWS underwent a successful trabeculectomy using the modified technique. Postoperative intraocular pressure was successfully reduced and no intraoperative complications occurred. We describe a successful case of trabeculectomy in a SWS case where a modified technique was applied.
Glaucoma/*congenital ; Humans ; Infant, Newborn ; *Intraocular Pressure ; Male ; Sturge-Weber Syndrome/*complications/diagnosis/surgery ; Trabeculectomy/*methods ; Visual Acuity

Axenfeld-Rieger syndrome is a rare autosomal dominant inherited developmental disorder characterized by ocular and systemic abnormalities. In ocular anomaly, it includes a prominent and anteriorly displaced Schwalbe line and an iridocorneal synechiae, iris hypoplasia, corectopia and secondary glaucoma. Extraocular developmental abnormalities of the syndrome are hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. We herein reported a familial case of Axenfeld-Rieger syndrome that had a mitral valve prolapse with severe mitral regurgitation finally requiring mitral valve replacement.
Glaucoma ; Hearing Loss ; Heart Defects, Congenital ; Iris ; Mitral Valve ; Mitral Valve Insufficiency* ; Mitral Valve Prolapse

BACKGROUNDGlaucoma is one of the leading causes of blindness in the world. Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) are subtypes of glaucoma. Myocillin is the first gene identified to be involved in POAG. Recently, myocillin mutation has been found in PCG. In this context, we reported a special glaucoma pedigree, which was composed of both PCG and POAG patients, and analyzed the mutation of myocillin in this pedigree.

METHODSThe family was composed of the parents, a son and a daughter. All members of the family underwent the complete ophthalmologic examinations. All coding exons 1 - 3 and flanking introns of myocilin gene were screened for sequence alterations by polymerase chain reaction and direct DNA sequencing.

RESULTSThe son was the proband, who was diagnosed as PCG in both eyes. The father was diagnosed as POAG in the right eye, the left eye was still normal. Both the sister and the mother of the proband had normal intraocular pressure without glaucomatous optic disc changes. The mutations in intron 2 of myocilin gene were detected in the family. While the proband and the father were homozygous, the mother and the sister were heterozygous for the mutation.

CONCLUSIONSHomozygous mutation in intron 2 of myocilin gene is involved in both POAG and PCG. It is suggested that the pathogenesis might be overlapping in POAG and PCG.

Cytoskeletal Proteins ; genetics ; Eye Proteins ; genetics ; Female ; Glaucoma ; congenital ; genetics ; Glaucoma, Open-Angle ; genetics ; Glycoproteins ; genetics ; Humans ; Introns ; Male ; Mutation ; Pedigree