Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.

Choroideremia is a rare X-linked recessive, hereditary retinal pigment epithelial dystrophy, characterized by night blindness and progressive constriction of the visual fields leading to blindness in young adulthood. In this study, we reported three cases of choroideremia belonging to a Tunisian family. Patients complained of vision loss and night blindness. Fundus examination revealed diffused chorioretenal atrophy. In all cases, there was a visual field constriction and an undetectable electroretinography. Direct sequencing of the CHM gene detected a guanine to adenine transition (G>A) into the donor splice site of intron 1 leads to aberrantly spliced mRNA producing a premature stop codon and therefore functional loss of the CHM gene product, REP-1. The diagnosis should be considered in patients with a suitable family history and fundus findings.

[Therapeutic compliance in primary open angle glaucoma]. / L'observance therapeutique dans les glaucomes primitifs a angle ouvert.

BACKGROUND: Compliance with medical treatment is a public health problem. It denotes the patient's perception of the disease and the treatment prescribed by doctors. It concerns one out of two patients. It may happen to any patient at one or another. It is secondary for reasons that are numerous and modifiable in time. It results from problems related to the patient as much as to the doctor. It represents an obstacle to paying for chronic diseases such as chronic open-angle glaucoma, hence the importance given to it in the recent years. AIM: To evaluate the compliance of adult patients suffering from early open-angle glaucoma and to determine the influential factors. METHODS: We conducted a survey at the ophthalmology department of Ibn El Jazzar Hospital among 132 adults being treated for early open-angle glaucoma. The evaluation was done on the basis of patient's medical files and a questionnaire from January 2007 to June of the same year. It ranges between good, average or bad depending on the frequency of the patient's visits to doctors, regularity of treatment and compliance with the doctor's prescription. RESULTS: 40.15% of the patients have positively complied with the prescriptions. This improvement has mainly been due to the following factors: The patient's good knowledge of the disease and its treatment; use of antiseptic eye lotion with the utmost effectiveness for the least instillation and side effects; patient's mastery of drop usage; doctor's intensive care required for some particular cases. CONCLUSION: Our results need to be confirmed by other studies. It's very important to consider all the determining factors in order to improve patient's compliance.

[Acanthamoeba keratitis. Report of 3 cases diagnosed in central Tunisia]. / Les kératites a Acanthamoeba sp: a propos de 3 cas diagnostiqués au centre Tunisien.

BACKGROUND: Amoeba of the genus Acanthamoeba are ubiquitous free-living protozoa encountered in water and soil. They frequently cause sight-threatening keratitis. AIM: Report of the three first cases diagnosed at the laboratory of Parasitology of Sousse Hospital, (Tunisia). CASE REPORT: Our study concerned three lens-wearing female patients, aged 17, 20 and 29 years respectively. The patients originate from central Tunisia and presented with unilateral (2 cases) or bilateral (one case) keratitis. Diagnosis was made by demonstrating Acanthamoeba trophozoites and/or cysts on direct examination and/or culture (in agar - Escherichia coli medium) of contact lenses and/or lenses' solution. Direct examination of corneal swabs was negative in three cases but culture was positive in one. The three patients were treated with hexamidine and neomycine eye-drops for three months. Treatment led to scarring of lesions with however sequellar opacities that was minor to moderate in two cases and consisted of a central leucoma with a poor visual outcome in the last case. CONCLUSION: The need for systematic research of amoeba in lenses wearing patients with keratitis is emphasized.

Telemedicine in the service of peace.

Ophthalmology is well suited to telemedicine, since optical and imaging devices provide the basis for virtually all ophthalmic patient evaluations. We established the Middle East Ophthalmology Network among ophthalmologists working in 10 major ophthalmology centres in Israel, Jordan, Morocco, the Palestinian Authority and Tunisia. The project offered some 50 physicians around the Middle East the opportunity to benefit from sharing clinical consultation for diagnosis and management decisions beyond physical and political boundaries. In the first year, over 100 consultations took place. The system overcame some of the constraints imposed by the uneven distribution of medical resources and expertise in the region, reduced professional isolation, encouraged more collaboration between physicians and offered peace dividends from cooperation between physicians across the political divide.