ABSTRACT
Background: Inherited retinal dystrophies are the major causes of blindness and visual impairment. Visual loss is due to neurosensory retinal and pigment epithelium cells degeneration. The most severe were Leber Congenital amaurosis [LCA], juvenile retinitis pigmentosa [RP] and early onset RP. The LCA and juvenile RP are called "Early Onset Retinal Dystrophy" [EORD]
Objective: Molecular exploration of the R91W [RPE65 gene] in Tunisian patients with Early Onset Retinal Dystrophy and early onset RP
Methods:All patients underwent a complete ophthalmological and a general examinations. The R91W exploration was performed by direct sequencing of exon 4 of the RPE65 gene and enzyme digestion
Results: Among 47 patients, 13 were from Nabeul. Twenty three had an EROD with a visual loss under the age of 2 years. Twenty four were with early onset RP and had these symptoms between the ages of 4 and 10 years. The best corrected visual acuity ranged from 2/10 to 1/60. Among the explored 94 chromosomes, the R91W [325C>T] allele was identified in heterozygous state in a sibling from Nabeul. The allele frequency was 2.12% [2/94]
Conclusion: All our patients had severe forms of RP with a decrease in visual acuity and a wide advanced retinal degeneration. The R91W mutation [325C>T] was not the major cause of EORD and early onset RP among Tunisian patients
ABSTRACT
To study the epidemiological profile and the degree of severity of hyperopia in Tunisia primary school and to assess its effect on school performance. A cross-sectional, descriptive survey was conducted among 6-14 aged Tunisian children attending primary urban and rural schools. A total of 6192 children were selected using stratified random cluster sampling. Cycloplegic refractive error was measured among all children with uncorrected visual acuity less than 9/10 or signs of astheniopia. Hyperopia was defined as spherical equivalent [SE] >/= 2.0 diopters [D]. We have also searched a possible relation between degree of severity of hyperopia and school performance. The prevalence of hyperopia was 2.61%. The spherical equivalent mean was + 3.73 +/- 0.94 D. The mean age was 9.67 +/- 0.44 years. This prevalence was 2.77% in boys and 2.47% in girls. 3.13% of students were living in urban areas and 1.42% in rural areas. The hyperopia rate decreased significantly with age [p = 0.021], but it was not significantly related to gender [p=0.54]. The difference in the prevalence of hyperopia between urban and rural areas was not statistically significant [p = 0.067]. There was no significant association between the degree of severity of hyperopia and school performance [p=0.41]. In our study, the prevalence of hyperopia among schoolage children in Tunisia was 2.61%.The identification of this refractive error and its correction as soon as possible would ensure these children better visual comfort and a better education
ABSTRACT
To describe optical coherence tomography [OCT] findings in a patient with Berlin's edema following blunt ocular trauma. A 26-year-old man presented with acute loss of vision in his left eye following blunt trauma. He underwent a complete ophthalmologic examination and OCT. Fundus examination revealed abnormal yellow discoloration in the macula. OCT disclosed thickening of outer retinal structures and increased reflectivity in the area of photoreceptor outer segments with preservation of inner retinal architecture. Re-examination was conducted one month later at the time which OCT changes resolved leading to a surprisingly normal appearance. OCT can be a useful tool in the diagnosis and follow-up of eyes with Berlin's edema and may reveal ultrastructural macular changes