GREM2 nucleotide variants and the risk of tooth agenesis.

OBJECTIVE: The etiology of tooth agenesis (TA) is multifactorial and still not fully understood. The aim of the study was to test whether variants of GREM2, encoding a bone morphogenetic protein (BMP) antagonist, are associated with the risk of this common dental anomaly in a Polish population. SUBJECTS AND METHODS: Direct sequencing of the GREM2 coding sequence including exon/intron boundaries was performed in 95 patients with both hypodontia and oligodontia. All identified GREM2 variants were then further tested in an independent group of patients (n = 163) and controls (n = 184). RESULTS: The previously described, functional GREM2 mutation (c.226C > G, p.Gln76Glu) was identified in two patients with hypodontia and associated dental anomalies, including taurodontism and microdontia. This mutation generating an allele with increased inhibitory activity was not detected in the control group. The second identified GREM2 variant, c.-1-21C > T (rs11806449), was not associated with the risk TA. The polymorphism allele frequency in both patients and controls was 0.21 (OR = 1.0, 95%CI: 0.76-1.46). The rs11806449 did not correlate either with the overall TA phenotype or hypodontia/oligodontia phenotypes. CONCLUSION: Our study confirmed that GREM2 is a candidate gene for tooth agenesis, which mutations can explain, however, only a small fraction of the genetic contribution to the pathogenesis of this anomaly.

[Cataract extraction and lens implantation in glaucomatous eyes after trabeculectomy]. / Usuniecie zacmy i wszczepienie soczewki w oczach z jaskra po trabekulektomii.

PURPOSE: Presentation of problems connected with an implantation of eye lens after trabeculectomy with changed anatomic conditions. PATIENTS AND METHODS: In 51 cases of patients with cataract and glaucoma, following a trabeculectomy operation, ECCE was made by corneal incision and lens implantation into posterior chamber. In the analysis, the following were taken into consideration: state of the eye before cataract operation, intrasurgical difficulties with necessary application of additional surgical actions, evaluation of postoperative course. RESULTS: In 41.1% of patients, surgical operations followed a non-typical way and the below procedures were necessary: loosening of adhesions, mechanical pupillary dilation, tearing off fibrous or stained membrane, iridorrhaphy and pupil reconstruction. Posterior chamber lens was implanted in 96% of patients and the following acuity was achieved: 0.5-1.0 in 25 eyes, 0.3-0.4 in 13 eyes, 0.02-0.2 in 10 eyes. There was no acuity improvement in 3 eyes only. CONCLUSIONS: Operation posterior chamber lens implantation after trabeculectomy can proceed in a non-typical way because of changed anatomic conditions. Postoperative functional results depend on the degree of nerve lesion (injury), but they are often better than preoperative prognoses indicate.

[Acute ischemic optic neuropathy]. / Ostra niedokrwienna neuropatia nerwu wzrokowego.

The authors presented a case of a woman, 78, with anterior ischaemic optic neuropathy--presumed Horton's disease. During 3 weeks before the patient was referred to the clinic, she had complained of strong head-, jaw- and ear-ache, bad general feeling and decreased appetite. At this time the patient was examined by a neurologist, a laryngologist and an internist, who did not find any pathology. The aim of this paper is to take into consideration the importance of early diagnosis in acute ischaemic optic neuropathy, especially that of arteritic etiology, which very often leads to blindness. This disastrous course could be avoided by early applied steroid therapy.

[Retinal detachment in pseudophakia]. / Odwarstwienie siatkówki w pseudofakii.

In the years 1987-1991, a total of 851 cataract extraction with artificial lens implantation were performed in the Ophthalmological Clinic of the Medical Academy in Poznan. There were 244 anterior and 607 posterior chamber IOLs. Retinal detachment was observed in this clinical material in 6 eyes (0.7%), only in the group of anterior chamber IOLs. The methods of applied retinal detachment surgery, its results and the status of the fellow eye are presented.

[Evaluation of the macula which was not involved in retinal detachment after surgical treatment of retinal detachment using scleral indentation. Summary of a doctoral thesis]. / Ocena plamki nie objetej odwarstwieniem po leczeniu operacyjnym odwarstwienia siatkówki za pomoca wpuklenia zewnatrztwardówkowego. Streszczenie pracy doktorskiej.

The goal of the study was the evaluation of the influence of the nowadays most frequently used surgical methods in cases of retinal detachment on the macula not involved in the detachment. The study takes into account surgical interventions which have the same indications and principles of action. They are based on an extra-scleral indentation--temporary or permanent one--by means of a Lincoff-Kreissig balloon and a meridional silicone sponge implant. The examinations comprised 54 patients. They were divided into 2 groups: 1st group (24 patients) was treated by cryopexy and a Lincoff-Kreissig balloon, the 2nd group (30 patients) by cryopexy and a meridional silicone sponge implant. In all the patients of both groups the retina reattached. During the 5-years observation of patients of the 1st group no macular changes were detected; one did not observe metamorphopsia or disturbances of the color vision. In the 2nd group instead 17 patients claimed metamorphopsia, 20 patients showed disturbances of the color vision and angiography changes involving the macular region (13 patients).

[Laser photocoagulation as a completion of the surgical treatment of retinal detachment]. / Fotokoagulacja laserowa jako uzupelnienie leczenia operacyjnego odwarstwienia siatkówki.

Among 600 operated retinal detachments in the last 5 years (1985-1989) there was no tight closure of the retinal hole after operation in 78. The causes were: the implant situated paracentrally to the hole, lack of contact between the implant and the hole, an insufficient scar, additional hole. Various types of the performed surgery were analyzed: the meridional or parallel implant, the balloon and endotamponade with the SF6 gas, executed with and without drainage of the subretinal fluid. In cases in which in the postoperative course was detected a lack of tightness of the hole the laser photocoagulation was performed in the area of the flat retinal detachment on the implant in a couple of stages. A favourable result of photocoagulation was attained in 75 patients (96.2 p.c.); in the remaining 3 patients (3.8 p.c.) a second surgical procedure was performed.

[Proliferative vitreoretinopathy as a cause of early recurrence of retinal detachment]. / Proliferacyjna witreoretinopatia jako przyczyna wczesnej wznowy odwarstwienia siatkówki.

Analysed were the results of surgical treatment, causes of the failure and early recurrence in 108 patients with retinal detachment in whom was performed an indentation of the sclera by means of a balloon (1st group--50) or by an episcleral implant (2d group--58). In the first group the apposition was achieved in 92 p.c., in the 2d group in 90 p.c. An early recurrence (2 weeks to 2 months) was observed in 9 eyes which were operated again achieving an apposition of the retina in 6 eyes. There were following causes of the failure: the existence of a second hole, rupture of the balloon, PVR before surgery and traction of the retina in the region of the hole. An early recurrence occurred in the consequence of intensification of the PVR together with inaccurate localization of the implant, existence of the PVR before the operation and traction of the retina in the vicinity of the hole, formation of a new hole.

[Results of the surgical treatment of retinal detachment by scleral buckling using the Lincoff-Kreissig balloon]. / Wyniki leczenia operacyjnego odwarstwienia siatkówki metoda wglobienia twardówki balonem Lincoffa-Kreissig.

Fifty patients with retinal detachment were treated by invagination of the sclera with a Lincoff-Kreissig balloon and transconjunctival cryopexy. Reattachment was achieved in the early period in 88% and in the late one in 80%.