Purpose: To determine the prevalence and determinants of diabetic retinopathy (DR) in patients ≧18 years at the Cairo University and Sixth of October University hospitals. Patients and Methods: This is a cross-sectional survey among known diabetic patients attending diabetic clinics. Patients were randomly selected to complete an interviewer-administered questionnaire and a medical assessment. All patients had a dilated fundus examination for evidence of DR using slit-lamp biomicroscopy. Results: A sample of 1,325 patients was selected with a mean age of 49 years (SD ±12.9). DR was found in 20.5% of patients. Most patients (82%) were not aware of the hazards of diabetes mellitus for the eyes. The prevalence of DR was statistically significantly higher in females (22 vs.17%, p < 0.05), with longer diabetes disease duration (p < 0.001), hypertension (p < 0.001) and absence of hypertension control (p < 0.001), especially proliferative DR. Increasing age and poor glycemic control were associated with a nonsignificant increase in the rate of DR (p = 0.340 and p = 0.444, respectively). Conclusion: The prevalence of DR in our study population is 20.5%. Regular screening is highly recommended for early detection of DR where timely laser photocoagulation is known to reduce the risk of visual loss in these patients.
PurposeTo report the first simultaneous onset of bilateral acute depigmentation of the iris (BADI) in two siblings.ObservationsTwo sisters presented with bilateral ocular pain, redness and light sensitivity. Examination revealed bilateral circulating pigment in the anterior chamber with pigment dusting on backs of the corneas, patchy iris depigmentation and heavy pigment deposition in the angle. Both patients had recently suffered from upper respiratory tract infections. Bilateral visual acuities were preserved and no transillumination defects were observed. The patients were diagnosed with BADI. Both cases were successfully controlled with topical corticosteroids and anti-glaucoma drops as well as topical glanciclovir gel.Conclusions and ImportanceTo date, there had been no published reports of BADI in the Middle East and Africa. This is the first observation of this entity in these regions. Moreover it is the first occurrence of BADI in two immediate siblings simultaneously. We also report the rare asymmetrical presentation with BADI in one of our patients. These observations point to the possibility of genetic factors underlying BADI as well as an infectious cause behind the etiology.
Background Oguchi disease is a rare type of congenital stationary night blindness associated with an abnormal fundus appearance. It is inherited in an autosomal recessive manner where two types exist according to the gene affected; type 1 associated with S-antigen (SAG) gene mutations and type 2 associated with rhodopsin kinase (GRK1) gene mutations. Purpose The aim of this work was to describe the clinical and genetic findings of the first two reported families of Oguchi disease in Egypt and African region. Methods Four members of two consanguineous Egyptian families with history of night blindness since childhood underwent complete ophthalmological examination, standard automated static perimetry, fundus color photography, fundus autofluorescence (FAF), fundus fluorescein angiography (FFA) in light-adapted state and spectral-domain optical coherence tomography (SD-OCT) of both the macula and the optic nerve head as well as central corneal thickness with repeated fundus photography following prolonged dark adaptation. Mutation screening of 7 coding exons of GRK1 gene and 15 coding exons of SAG gene as well as some flanking regions were performed using Sanger sequencing technique. The variants were tested for pathogenicity using different in silico functional analysis tools. Results The clinical examination and investigations confirmed Oguchi disease phenotype. One patient showed p.R193* (c.577C > T) which is a previously reported SAG gene mutation in a homozygous form. The other three patients from a different family showed (c.649–1 G > C), a novel canonical splice site SAG gene mutation in a homozygous form. Conclusion The identification of the novel canonical splice site SAG gene variant in three members of the same family with clinically confirmed Oguchi disease reinforces its pathogenicity. A fourth patient from another family carried a previously reported mutation in the same gene. SAG gene variants may be the underlying genetic cause for Oguchi disease in Egypt. Our findings have expanded the spectrum of Oguchi disease-associated mutations in SAG gene and may serve as a basis for genetic diagnosis for Oguchi disease.
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