Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition.

[Final visual acuity in patients undergoing posterior vitrectomy for Terson's syndrome: a series of 11 cases]. / Acuité visuelle finale des patients opérés par vitrectomie postérieure pour un syndrome de Terson. A propos de 11 cas.

PURPOSE: The purpose of this study was to assess visual acuity after vitrectomy for Terson's syndrome. METHODS: This is a retrospective study of 11 eyes (7 patients), who underwent pars plana vitrectomy between 1996 and 1998. Visual acuity was evaluated at 1, 5 and 12 months. We also report immediate and delayed complications. RESULTS: Initial visual acuity was below 20/200 for 9 patients (81%). Final visual acuity was 20/25. An epiretinal membrane was noticed in two patients during the surgical procedure. Final visual acuity for those two patients was only 20/40 and 20/100. Two patients developed cataract following vitrectomy, one developed an endophthalmitis with good vision recovery. CONCLUSION: Vitrectomy for vitreous hemorrhage in Terson's syndrome after three months follow up is a solution without major risks and has a good visual prognosis. Final visual acuity of patients after vitrectomy for Terson's syndrome is good. However, Terson's complications such as epiretinal membrane and cataract are limiting factors for good visual recovery.

[Non-penetrating deep sclerectomy in the surgical treatment of chronic open-angle glaucoma. Mid-term results]. / La sclérectomie profonde non perforante dans le traitement chirurgical du glaucome chronique à angle ouvert. Résultats à moyen terme.

PURPOSE: Non-penetrating deep sclerectomy has been performed in France since the early nineties and appears to be an interesting alternative to Cairn's trabeculectomy. The technical characteristics, the ability to use antimitotic procedures and postoperative YAG laser goniotomy contribute to make deep sclerectomy an attractive surgical method. We evaluated its efficacy and adverse effects in a mid-term retrospective series. PATIENTS AND METHODS: Fifty patients (all POAG) without usually accepted failure risks for trabeculectomy (trabeculoretraction less than 3 months, intraocular anterior or posterior lens, aphakia, black or Asian subject, failure of previous surgical procedure, patients under 40) underwent this surgical procedure between June 96 and October 97 performed by several skilled surgeons in our unit. This was the first antiglaucoma surgical procedure for all patients. Collagen draining implant was not used. Two pressure criteria (21 mmHg and 16 mmHg) were used to assess success. Success rate and adverse effects were compared with previously published data using the Kaplan-Meier test. RESULTS: Medium follow-up was 14.24 months. The success rate was 81% (IOP 21 mmHg) and 50% (IOP 16 mmHg) at maximum follow-up of 18 months. There was no statistical difference between treated and untreated groups for target IOP at 21 mmHg (p = 0.12). These results were comparable to those in previous studies and to those obtained with trabeculectomy. The complication rate was low (hyphema 0%, choroidal detachment 2%, hypothalamia 2%, endocular infection 0%). DISCUSSION: Our success rate and complication rate were comparable with previously published series. Choosing a target IOP of 16 mmHg allowed a better comparison between daily clinical observations and mid-term results, showing a significant difference from the 21 mmHg target. Nevertheless, the success rate was comparable to that obtained with trabeculectomy and the complication rate was lower, supporting the favorable opinion concerning deep sclerectomy. CONCLUSION: Non-penetrating deep sclerectomy appears to be as efficient as Cairn's trabeculectomy for surgical treatment of glaucoma and allows a lower complication rate. Long-term results, visual field and papilla remain to be evaluated. Furthermore, results with a pressure goal of 16 mmHg are interesting to evaluate because they reflect the real clinical situation better than the target 21 mmHg IOP. This technique should be evaluated in other forms of glaucoma.

Effects of low alcohol consumption on visual evoked potential, visual field and visual contrast sensitivity.

PURPOSE: We studied changes in the vision of 16 people after consumption of a small quantity of alcohol, at a blood alcohol level (BAL) of 0.57 g/kg. METHODS: We studied visual contrast sensitivity (VCS) using Vistech VCTS 6500, visual evoked potential (VEP) by checked pattern stimulations and the peripheral visual field (PVF) with a perimetric automatic Humphrey. We first carried out the tests on sober people and then on individuals with a BAL of 0.57 g/kg. RESULTS: Alcohol consumption caused no significant difference in performance for these 3 tests. However, at a BAL of 0.57 g/kg there was a decrease in cerebral function, as shown by an increase in the number of mistakes made in the Wisconsin Card Sorting Test. CONCLUSION: These results suggest that for a low blood alcohol level, visual performance is less affected by the visual changes than by alteration in brain functions.

[Apropos of a rare case of bilateral orbital metastasis of malignant melanoma of the choroid]. / A propos d'un cas rare de métastase orbitaire bilatérale d'un mélanome malin de la choroïde.

We report a case of bilateral orbital metastasis from an ocular choroidal melanoma which had required enucleation eight years earlier. This uncommon case was fully documented with clinical, radiological and pathological studies. Magnetic resonance imaging was particularly contributive showing very characteristic sequences. The patient was given focal palliative cobalt radiotherapy. We compared this case with previous reports in the litterature.

[The role of percutaneous puncture alcohol sclerotherapy in the treatment of symptomatic kidney cysts]. / Place de la sclérothérapie alcoolique par ponction percutanée dans le traitement des kystes rénaux symptomatiques.

OBJECTIVE: The objective of this study was to prospectively evaluate the results of percutaneous alcohol sclerotherapy of symptomatic renal cysts in adults. MATERIAL AND METHODS: We report a series of 13 patients with a mean age 69 years (47-75 years). The operative indication was pain (9 cases), urinary tract compression (3 cases), very large cyst (1 case). The preoperative assessment (site and dimensions of the cyst) always included ultrasonography (mean diameter: 75 mm). CT scan, for morphological assessment, was performed in 10 cases. The proposed technique consists of intraoperative ultrasound detection followed by puncture of the cyst (under local or general anaesthesia). Insertion of a Malécot tube allows drainage of the cyst with collection of bacteriological and cytological samples and opacification and instillation of an alcoholic solution (98% ethanol) corresponding to one half of the cyst volume, with clamping for 20 minutes. Postoperative surveillance is based on clinical examination and ultrasonography (2 months, 6 months, 1 year). RESULTS: The procedure was very well tolerated in every case, with external drainage for 48 hours. Clinical and ultrasonographic regression was complete in 90% of cases, with a mean follow-up of 15 months (4-40 months). In two cases, ultrasonographic regression was incomplete (diameter less than 20 mm), but the patients remained asymptomatic. CONCLUSION: Our results are concordant with those of most studies reported in the literature and this method therefore appears to be a preferred technique for the treatment of this type of renal cyst.