AIM To study the central corneal thickness of a Tunisian population and determine the influence of age, gender, axial length and refractive error on central corneal thickness (CCT) values. METHODS An observational, cross-sectional study was conducted on 608 eyes of consecutive Tunisian patients without ophthalmic disease. Corneal tomography (Oculus Pentacam, USA) and a complete eye examination were performed on all patients. The relationship between the central corneal thickness values and variables of age, refractive error, axial length and gender was assessed. RESULTS The mean central corneal thickness was 522±37.17μm (range 461 to 655 μm). No statistical association was found between central corneal thickness values and variables of age, refractive error, axial length and gender. CONCLUSIONS The normal CCT value in the Tunisian population was of 522±37.17 µm. We have analyzed, for the first time, normal central corneal thickness values of a healthy Tunisian population.
Aim: To report an uncommon case of aneurysmal type 1 neovascularization (polypoidal choroidal vasculopathy) secondary to high-myopic staphyloma in a Caucasian patient, assessed with multimodal imaging including swept source OCT-Angiography. Methods: Observational case report Results: About 73-year-old Caucasian male patient with high myopia (axial length = 27.24 mm). Fundus examination showed a myopic conus and a deep orange-brownish nodular lesion at the edge of a deep haemorrhage and connected to a large choroidal vessel. ICGA showed a circular hyperfluorescent lesion in mid-phase, without any branching vascular network. OCT-Angiography could detect the aneurysmal lesion non-invasively as a small circular high-flow lesion in the outer retina slab, with a shadowing in the choriocapillaris slab. At the level of the aneurysmal lesion, structural OCT showed a high bilobed PED, without any subretinal fluid. A vascular flow was noted within the PED on cross-sectional OCT-A, confirming the vascular aneurysmal nature of this lesion. Additionally, swept source OCT highlighted the presence of an abrupt change in choroidal thickness, from 62 µm in the peripapillary area to 120 µm underneath the polypoidal lesion, with dilated choroidal vessels. Conclusion: To our knowledge, this is the first report of OCT-A findings in aneurysmal (polypoidal) dilation secondary to high-myopic staphyloma. We could demonstrate the usefulness of OCT-A detecting non-invasively the aneurysmal dilation and the usefulness of swept source OCT assessing the choroidal structure to better understand the pathophysiology of this uncommon finding.
Purpose The aim of our study was to assess the clinical phenotype and to determine the causative gene in a Tunisian family with an autosomic recessive retinitis pigmentose (arRP). Methods All accessible members of a consanguineous Tunisian family were included and underwent full ophthalmic examination with best corrected Snellen visual acuity, fundus photography, optical coherence tomography (SD‐OCT) and full field electroretinography (ERG). Index patient was selected for whole exome sequencing (WES) followed by homozygosity mapping. All detected variations were confirmed by direct Sanger sequencing. Results The clinical data of the patients showed typical hallmarks of RP symptoms for which affected individuals initially experienced night blindness with progressive visual loss and hemeralopia since the first decade of life. Visual acuity at baseline ranged from 1/10 to 5/10. Funduscopy revealed essentially mild optic disc and retinal atrophy and virtually no clumped pigmentation. Macula was normal in young patients and showed atrophic alteration in advanced stages. ERG was unrecordable in scotopic conditions and the cone responses were markedly hypovolted. Homozygosity mapping and whole exome sequencing identified a 4‐pb deletion, c.1154+3_1151+6delAAGT, located in the donor splice site of intron 8 of CERKL . The mutation impacts pre‐mRNA splicing of CERKL . This new deletion was present at a homozygous state in the two affected sons and was heterozygous in the parents. It was not present in the unaffected sister. Conclusions Mutations in CERKL gene have been reported in patients with retinitis pigmentosa, c.1154+3_1151+6delAAGT is a novel splicing variant associated with arRP. Extending the mutation spectrum of CERKL with additional families is important for genotype‐phenotype correlations.
To compare the therapeutic impact of combining intravitreal injections of bevacizumab (IVB) with micropulse laser (MPL) in central diffuse diabetic macular edema (DME) versus IVB monotherapy during 12 months follow-up.We conducted a retrospective comparative study of 98 treatment-naive eyes (63 patients) with central diffuse DME. The first group of patients (IVB + MPL group, n = 49) was treated with 3 monthly IVB followed by MPL within 1 week after the third injection. Patients were then followed and treated on a pro re nata (PRN) basis, with MPL retreatment if necessary. The changes in best-corrected visual acuity (BCVA), central macular thickness (CMT), number of IVB injections and MPL sessions were evaluated at 4, 8, and 12 months. A control group of diabetic patients with treatment-naive DME was treated with standard protocol of 3 monthly IVB as monotherapy then followed on a PRN basis (IVB group, n = 49). Statistic comparaison of BCVA, CMT, and IVB number variation was interpreted at 12 months between both groups.In IVB + MPL group, baseline BCVA improvement was not significant at 4 and 8 months (p = 0.90, p = 0.08), and was statistically significant (p = 0.01) at 12 months. Mean CMT significantly decreased at 4, 8, and 12 months (p < 0.01) in IVB + MPL group. The difference in BCVA (p = 0.091) and CMT (p = 0.082) variation at 12 months between both groups was not significant but the number of injections was significantly lower in IVB + MPL group (4.1 ± 1.5 injections) compared to IVB group (7.2 ± 1.3 injections) (p < 0.005).Combining intravitreal injections of bevacizumab and MPL in the treatment of DME is effective and safe. This protocol may decrease the number of IVB and its frequency. It offers the advantage of lasting therapeutic response with fewer recurrences.
Purpose We report a special case of a patient who presented with two rare genetic diseases, Turner syndrome and cone-rod dystrophy (CRD), caused by mutation in the ABCA4 gene. Methods We present a case of a 12-year-old female with a progressive visual loss, poor night vision and short stature. We performed a clinical, karyotype of peripheral blood and molecular genetic study. DNA sample from the index patient was subjected to whole exome sequencing. Variants localized in homozygous regions were validated by Sanger sequencing. Results Fundus examination presented CRD phenotype and the general examination revealed short stature, aortic coarctation and infantile uterus, without visible ovaries on pelvic ultrasound. The karyotype of peripheral blood showed monosomy 45,X. We identified a known homozygous deletion c.[885delC];[885delC] in ABCA4, resulting in a frameshift at the position p.[L296Cfs*4];[ L296Cfs*4] . In addition, mutations in RPGR and ORF15 were excluded. Conclusions Several ocular disorders are known to be associated with Turner syndrome, however, in this case, we hypothesize that CRD is not related to Turner syndrome but may be a manifestation of the lack of a normal X chromosome with ABCA4 mutation.
We report the effect of micropulse laser (MPL) treating a case of residual subretinal fluid (SRF) after rhegmatogenous retinal detachment (RRD) surgery. A 38-year-old male patient presenting with residual SRF 6 months following RRD surgery. Initial central macular thickness (CMT) was 243 μm. A 3 × 3 MPL macular grid was performed with moderate reduction of SRF (CMT = 191 μm). Five months following second MPL session, we noted a complete resolution of SRF (CMT = 98 μm) and fundus autofluorescence did not show any laser scare. Micropulse laser might represent a new non-invasive efficient treatment for residual SRF after RDD surgery. MPL effect seemed to be delayed and close follow-up was necessary.
Objective We report the association of polypoid choroidal vasculopathy (PVC) with angioid streaks (AS) secondary to pseudoxanthoma elasticum (PXE) treated by intravitreal injection of bevacizumab. Case report A 50-year-old patient, followed in dermatology for a PXE, who consulted for a consulted for a decreased vision in his right eye (RE) for a month. On examination, best corrected visual acuity (BCVA) was at 1/20 P14 in the RE and at 8/10 P2 in the left eye (LE). Fundus examination revealed AS in both eyes, large patches of exudate at the posterior pole with retinal hemorrhages in the RE. Fluorescein angiography (FA) showed constant hypofluorescence by mask effect due to exudates and macular early hyperfluorescence with late diffusion associated with small hyperfluorescent lesions in the RE. We suspected CNV type 2. Macular Spectral Domain optical coherence tomography (SD-OCT) showed significant retinal infiltration with pre-epithelial hyper-reflectivity bracing the diagnosis of type 2 CNV. In view of the importance of exudates and intra-retinal infiltration, we completed by indocyanine green angiography (ICGA) which showed hypercyanecent vascular dilations grouped in clusters of grapes relevant to an associated VPC. The patient received eight monthly intravitreal (IVT) injections of bevacizumab with good anatomical evolution. At 10 months, visual acuity was 1/10 with disappearance of exudates and retinal infiltration. Conclusion Patients with AS should receive regular follow-up given the risk of CNV but also of VPC, especially in cases of PXE. Multimodal imaging is of great help and ICGA remains inescapable.