Immunohistochemical study of vascular endothelial growth factor (VEGF), tumor suppressor protein (p53) and intercellular adhesion molecule (ICAM-1) in the conjunctiva of diabetic patients.

The expression pattern of VEGF, p53 and ICAM-1 was studied in conjunctiva of diabetic patients with and without retinopathy. All patients underwent a complete ophthalmic examination, including retinal fluorescein angiography. Indirect immunoperoxidase method was performed on 20 eyes of 20 patients with type II diabetes without DR and on 5 eyes of 5 patients with PDR. A control study was performed on 6 normal conjunctiva undertaken during cataract surgery. Immunoreactivity of VEGF, p53 and ICAM-1 was found in epithelial, fibroblast and vascular endothelial cells. For the same duration of diabetes, a strong to moderate or weak immunoreactivity was observed in the conjunctiva of patients without retinopathy. In patients with PDR, the expression was strong for all these proteins. The immunoreactivity was correlated between VEGF, p53 and ICAM-1. In the normal conjunctiva, a weak to negative immunostaining was observed. The presence of these proteins in the conjunctiva of diabetic patients without retinopathy may add new data in the pathogenesis of diabetic retinopathy. Further studies are needed to confirm this hypothesis.

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.

PURPOSE: To map the locus and identify the gene causing autosomal recessive congenital cataracts in a large consanguineous Tunisian family. METHODS: DNA was extracted from blood samples from a large Tunisian family with an autosomal recessive, congenital, total white cataract. A genome-wide scan was performed with microsatellite markers. All exons and the splice sites of the HSF4 gene were sequenced in all members of the Tunisian family and in control individuals. RT-PCR was used to detect different transcripts of the HSF4 gene in the human lens. The transcripts were cloned in a TA cloning vector and sequenced. RESULTS: Two-point linkage analyses showed linkage to markers on 16q22 with a maximum lod score of 17.78 at theta = 0.01 with D16S3043. Haplotype analysis refined the critical region to a 1.8-cM (4.8-Mb) interval, flanked by D16S3031 and D16S3095. This region contains HSF4, some mutations of which cause the autosomal dominant Marner cataract. Sequencing of HSF4 showed a homozygous mutation in the 5' splice site of intron 12 (c.1327+4A-->G), which causes the skipping of exon 12. A more detailed study of the transcripts resulting from alternative splicing of the HSF4 gene in the lens is also reported, showing the major transcript HSF4b. CONCLUSIONS: This is the first report describing association of an autosomal recessive cataract with the HSF4 locus on 16q21-q22.1 and the first description of HSF4 splice variants in the lens showing that HSF4b is the major transcript.

[Penetrating keratoplasty in children]. / La greffe de cornéee chez l'enfant.

Penetrating keratoplasty in children is a high risk transplantation. Indications increased with improvement of surgical techniques and therapies. Our purpose is to study anatomic and functional results of penetrating keratoplasty in children. We report the results of a retrospective study including 23 penetrating keratoplasties (22 eyes) performed in 20 patients younger than 16 years old, between 1991 and 2000 at the department of ophthalmology at Charles Nicolle University Hospital-Tunis. Penetrating keratoplasty was performed for congenital dystrophies in 6 cases (17.3%), for acquired traumatic opacities in 4 cases (26%) and for non traumatic acquired opacities in 13 cases (56.7%). Non traumatic acquired opacities were keratoconus in 8 cases (61.5%), keratitis in 3 cases (23%) and graft rejection in 2 cases (15.5%). The mean follow-up was 41.8 months. Grafts remained clear in 20 cases (83.3%). Graft rejection occurred in 4 cases. Graft failure occurred in 3 cases (16.6%). Mean postoperative visual acuity was 3/10 (ranging from 1/20 to 7/10). Penetrating keratoplasty in children allows a satisfying anatomic success but a moderate visual improvement. Amblyopia is the major obstacle to success in children corneal grafting.

[Visual impairment in Tunisia]. / Le handicap visuel en Tunisie.

The purpose is to study visual impairment in Tunisia, its epidemiology, its etiologies and to present the major prevention measures. This study was conducted between 1992 and 1998. 1105 patients were examined in specialized outpatient clinic. Our group is composed from 712 men and et 393 women, aged 1 to 93 years. 435 patients were partially sighted and 670 were blind. Adults pathologies were dominated by acquired cataracts and adult glaucomas; diabetic retinopathy and age related macular degeneration are less frequent. Infectious ocular diseases are in constant decrease in Tunisia since 30 years. Prevention is fundamental and must be done each time it is possible. Visual reeducation should improve autonomy and familial and socio-economic reintegration of these visually impaired.

[Retinal detachment due to macular hole: therapeutic problems]. / Décollement de rétine par trou maculaire: problèmes thérapeutiques.

UNLABELLED: To compare the success rate and the visual improvement of different surgical techniques for treating 21 retinal detachments due to macular hole in highly myopic eyes. METHODS: Twelve patients were treated by gas tamponade alone, 5 patients underwent vitrectomy with gas tamponade, 4 patients underwent vitrectomy with epiretinal membrane pealing and gas or oil silicone tamponade. RESULTS: Fifty eight % of patients were successfully treated after gas tamponade alone, and 75% after vitrectomy, epiretinal membrane pealing and gas or silicone oil tamponade. After retreatment in 7 patients, the final reattachment rate was 80%. Visual acuity was inchanged in 12 cases, improved to 1/20-1/10 in 8 case and reached 3/10 in 1 case. CONCLUSION: A therapeutic scheme is suggested according to the type of retinal detachment, macular vitreoretinal traction and pigment epithelium and chorioretinal degeneration condition.