Jean-Louis Anctil

HOMOZYGOTES CARRYING AN AUTOSOMAL DOMINANT TIGR MUTATION DO NOT MANIFEST GLAUCOMA

nature genetics volume 19 august 1998 319 Autosomal dominant disorders typically result in more severe clinical manifestations in mutant homozygotes than in heterozygotes1. Huntington disease is the only reported non-neoplastic human pathology in which no phenotypic variance has been detected between these two types of carriers, and where the mutant allele is truly dominant over its wild-type counterpart2. Primary openangle glaucoma (POAG), a leading cause of blindness worldwide, is characterized by progressive degeneration of the optic nerve and is usually associated with intraocular hypertension3 (OHT). Several loci involved in glaucoma have been localized4,5. Recently, mutations in the trabecular meshwork-inducible glucocorticoid response (TIGR) gene, also known as myocilin6, mapping to the GLC1A locus at 1q23−q25, were identified in families affected by autosomal dominant POAG (refs 7−10). We investigated a FrenchCanadian family, pedigree GV-001, in which POAG was transmitted as an autosomal dominant trait linked to the GLC1A locus11. The large size of this kindred and its relative isolation in eastern Québec allowed us to assess the effects of a TIGR mutation present in double dosage in four adult homozygotes. These individuals were asymptomatic for the disorder, with POAG affecting only the heterozygotes. The pedigree currently contains 622 individuals, of which 83 manifested either juvenile-onset (JOAG), a subset of POAG that has an early age at onset3, or adultonset POAG. Ten individuals also displayed OHT, which often preceded POAG by several years11. A marriage in branch GV-510 between two affected seconddegree cousins, mother V-1 and her spouse, father V-2 (Fig. 1a), resulted in 10 children, now 33−50 years of age. It was expected that these siblings would carry two wild-type copies of TIGR in a proportion of approximately 25%, and approximately 75% would harbour at least one mutant allele. It was also anticipated that a high proportion of these adults would be affected. Phenotypic evaluation showed only two sibs to be affected: son VI-3 and daughter VI-4 (Fig. 1a). The other eight sibs disHomozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma

Transconjunctival suturing of the scleral flap for overfiltration with hypotony maculopathy after trabeculectomy

OBJECTIVE To assess the efficacy of transconjunctival suturing of the scleral flap in improving hypotony maculopathy resulting from overfiltration after trabeculectomy. DESIGN Retrospective review. PARTICIPANTS 35 eyes of 33 patients. METHODS Patients underwent transconjunctival scleral flap suturing for hypotony maculopathy following trabeculectomy using mitomycin C. The scleral flap was sutured through the conjunctiva as an outpatient clinic procedure using a spatulated needle with a 10-0 nylon suture. RESULTS The average age of the patients was 67.5 (SD 4.80, range 39-83) years, and 52% patients were male. The average duration of hypotony prior to transconjunctival suturing of the flap was 108.0 (SD 68.3) days. The median intraocular pressure (IOP) before suturing was 3 mm Hg, and the median IOP 6 months after the procedure was 9 mm Hg (p < 0.0001). The median best-corrected visual acuity (BCVA) before transconjunctival suturing of the scleral flap was 20/100, and the median BCVA 6 months after the procedure was 20/30 (p < 0.0001). Compared with visual acuity before suturing the average gain in BCVA was 4.9 (SD 0.8) lines. CONCLUSIONS Transconjunctival suturing of the trabeculectomy scleral flap is an effective treatment to raise IOP and improve visual loss from hypotony maculopathy after trabeculectomy with overfiltering blebs.

Influence on intraocular pressure of anti-inflammatory treatments after selective laser trabeculoplasty.

INTRODUCTION Selective laser trabeculoplasty (SLT) is an effective and safe procedure to lower intraocular pressure (IOP) in the management of open-angle glaucoma. The post-laser inflammatory reaction could be positively implicated in SLT efficacy and the relevance of postoperative use of topical anti-inflammatory remains controversial. The goal of this study is to determine the effect of various anti-inflammatory treatments on intraocular pressure and on side effects following SLT. MATERIAL AND METHODS A prospective, randomized, double-blind study with a control group was conducted. Ninety-six eyes of 67 patients with primary open-angle glaucoma who underwent SLT were enrolled in this study between March 2009 and March 2012. Eyes recruited in the study were randomized to receive either prednisolone acetate 1%, diclofenac 0.1% or a placebo. The 3 treatments were administered 4 times a day for 5 days following SLT. The intraocular pressures were measured at regular intervals during the 6-months follow-up period. Side effects were also evaluated with a questionnaire as well as with the ocular exam. RESULTS The analysis of the relative IOP decrease over the 6-months period revealed a significant difference between the time points of follow-up (P<0.0001), but no group effect (P=0.2980). No significant difference regarding anterior chamber inflammation and discomfort was observed between the 3 groups. CONCLUSION There was no difference in intraocular pressure reduction, intraocular inflammation or ocular discomfort post-SLT when comparing the 3 treatment modalities.