ABSTRACT
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.
Subject(s)
Adaptor Proteins, Signal Transducing/genetics , Choroideremia/genetics , Mutation , Adolescent , Female , Humans , Male , Middle Aged , Pedigree , TunisiaABSTRACT
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.