Ayça Sari

An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome

Goldmann-Favre syndrome (GFS) is one of the rarest inherited vitreoretinal dystrophies that manifests with hemeralopia, degenerative vitreous changes, peripheral and central retinoschisis, a liquefied vitreous cavity with preretinal band-shaped structures, macular oedema, cataract formation, and an abnormal electroretinogram (ERG).1–3 The term “clumped pigmentary retinal degeneration” (CPRD) describes a group of patients with decreased night and peripheral vision who have round and irregular clumps of pigment in the mid-peripheral fundus with little or no evidence of bone spicule formation.4 This pattern of pigmentation occurs in retinitis pigmentosa (RP) with preserved para-arteriolar retinal pigment epithelium (PPRPE),5 enhanced S-cone syndrome (ESCS), and GFS, and these disorders share common mutations in the NR2E3 gene, which is involved in retinal cell fate determination.6 We present clinical and molecular genetic studies of a family from the United Arab Emirates with a classic GFS phenotype and a mutation in the NR2E3 gene. Two affected siblings and two unaffected siblings from a consanguineous family in which there were nine unaffected siblings were examined. GFS was diagnosed according to previous clinical descriptions of the disease.1,2 Complete ocular examinations, fluorescein angiography (FA), ERG, and optical coherence tomography (OCT) were …

Effect of mitomycin C on ciliary body and intraocular pressure with various application depths: an experimental study

Background: To evaluate the effects of mitomycin C (MMC) on intraocular pressure (IOP) and ciliary body via transmission electron microscopy when applied under conjunctiva or different depths of sclera, without performing any filtering surgery.

Microkeratome-assisted lamellar keratoplasty for keratoconus: stromal sandwich

Purpose: To evaluate microkeratome‐assisted lamellar keratoplasty for the treatment of keratoconus when it is not possible to correct the astigmatic ametropia with contact lenses. Setting: Ophthalmology Department, School of Medicine, Gazi University, Ankara, Turkey. Methods: This prospective study comprised 9 eyes of 7 keratoconus patients with contact lens intolerance. The donor cornea was prepared with a microkeratome and punched with a 7.25 mm or 7.50 mm trephine. Following the creation of a standard 9.0 mm corneal flap in the host cornea, the donor stromal button was implanted under this corneal flap like a sandwich. Transepithelial photorefractive keratectomy or laser in situ keratomileusis was performed when the corneal topography and refraction stabilized by the end of the sixth postoperative month. Follow‐up ranged from 7 to 22 months. Results: All patients gained 5 or more lines (mean 7.2 lines ± 1.6 [SD]), and no patient lost a line of vision. The mean corneal thickness was 432.7 ± 36.1 &mgr;m preoperatively and 578.1 ± 45.1 &mgr;m after refractive surgery. Conclusion: The early visual results of this surgical technique are promising and seem to be comparable to those with penetrating keratoplasty.

Excimer laser-assisted anterior lamellar keratoplasty for keratoconus, corneal problems after laser in situ keratomileusis, and corneal stromal opacities

PURPOSE: To evaluate excimer laser‐assisted anterior lamellar keratoplasty to augment thin corneas as in keratoconus (<350 μm) and corneal ectasia after laser in situ keratomileusis (LASIK) and to treat anterior stromal opacities. SETTING: Ophthalmology Department, School of Medicine, Gazi University, Ankara, Turkey. METHODS: Thirteen eyes (5 keratoconus, 3 macular dystrophies, 1 post‐LASIK ectasia, 1 post‐LASIK interstitial keratitis, 3 post‐herpetic keratitis sequelae) of 13 patients were included in this prospective study. The treatment group was divided into corneal ectasia and stromal opacity groups. A donor stromal button approximately 350 μm thick received a 100 μm excimer laser ablation on the endothelium. The remaining cornea (epithelium, Bowmans membrane, and stroma) was punched with a 7.5 or 7.7 mm trephine. After transepithelial ablation of the host cornea to 200 μm thickness, the corneal button was sutured with interrupted 10‐0 monofilament nylon. Sutures were removed between 3 months and 6 months postoperatively. Preoperative and postoperative simulated keratometric cylinders and corneal thickness values were compared using the Wilcoxon signed rank test. The postoperative spherical equivalent refraction and best spectacle‐corrected visual acuity (BSCVA) between the groups were compared using the Mann‐Whitney U test. RESULTS: The mean follow‐up was 27.6 months ± 8.3 (SD). All patients gained 2 lines or more of BSCVA, and no patient lost a line. The mean corneal thickness was 381.2 ± 88.2 μm preoperatively, which significantly increased to 534.9 ± 96.6 μm postoperatively (P<.05). The mean preoperative simulated keratometric cylinder was 7.44 ± 7.18 diopters (D); postoperatively, it decreased to 2.61 ± 1.73 D (P<.05). There was no significant difference in postoperative spherical equivalent refraction or BSCVA between the groups (P>.05). CONCLUSIONS: This technique presents a different modality for the treatment of keratoconus, post‐LASIK corneal problems, and other corneal stromal opacities with anterior lamellar keratoplasty. Additional studies with more patients and longer follow‐up will help determine the role of this technique as a substitute for penetrating keratoplasty in these patients.

Cyclooxygenase-2 expression in primary and recurrent pterygium

Purpose Pterygium is a proliferative, inflammatory, and invasive ocular surface disease associated with excessive ultraviolet radiation exposure and has several tumor-like characteristics. Cyclooxygenase-2 (COX-2) is an inducible enzyme and recently increased expression of the enzyme was found in many cancers and premalign lesions. This study was conducted to identify the COX-2 expression in pterygium tissues. Methods Immunohistochemical staining using a primary antibody for COX-2 was performed on 30 specimens with primary pterygium (20 pterygium without recurrence and 10 pterygium which recurred during a 12-month follow-up), 11 specimens with recurrent pterygium, and 8 specimens of conjunctival tumor. As a control we used 10 specimens of normal conjunctiva. Extent and intensity of cytoplasmic and membranous staining in epithelial cells were evaluated. Results Higher expression of COX-2 was detected in conjunctival tumor (87.5%) specimens and recurrent pterygium specimens (72.7%) compared to the both normal conjunctiva (30%) and primary pterygium without recurrence (30%). COX-2 expression in primary pterygium tissues with recurrence (60%) was not different from primary pterygium without recurrence (p=0.114) and recurrent pterygium (p=0.537). However, recurrent pterygium tissues were found to express higher COX-2 than primary pterygium without recurrence (p=0.022). Conclusions COX-2 expression is increased in recurrent pterygium tissues and COX-2 expression may be a marker for the prediction of recurrence.

Surgical treatment of hereditary lens subluxations.

BACKGROUND AND OBJECTIVE To evaluate the effectiveness and results of pars plana vitreolensectomy approach with transscleral fixation of intraocular lens in hereditary lens subluxations. METHODS Fifteen eyes of 9 consecutive patients with a mean age of 12.8+/-6.2 years (6-26 years) with hereditary lens subluxation were operated on and the results were evaluated in a prospective study. Surgery was considered if best spectacle corrected visual acuity (BSCVA) was less than 20/70. All eyes underwent a 2-port pars plana vitreolensectomy and transscleral fixation of an intraocular lens (IOL). RESULTS The mean follow-up period was 12.6+/-7.5 months (6-22 months). There was no major intraoperative complication. Preoperatively, 8 eyes (53.3%) had a BSCVA of counting fingers (CF) and 7 eyes (46.6%) had a BSCVA of 20/200 to 20/70. Postoperatively, 14 eyes (93.3%) had a BSCVA of 20/50 or better. None of the patients had IOL decentration or intraocular pressure (IOP) increase during the follow-up period. There was a macular hole formation in 1 eye postoperatively. CONCLUSIONS The early results of pars plana vitreolensectomy with IOL implantation using scleral fixation technique had shown that it not only promises a rapid visual rehabilitation but it is also a relatively safe method. More serious complications, however, may occur in the long term.

Persistent pupillary membranes in 3 siblings

We report 3 siblings from a nonconsanguineous white family with bilateral persistent pupillary membranes with dissimilar forms of severity. Two of the patients required no treatment; 1 was treated surgically for occlusion of the pupillary axis and moderate visual acuity decrease. Anterior segment examination was otherwise normal in the siblings. Although persistent pupillary membranes are usually sporadic, cases in which they are associated with other anterior chamber abnormalities might be inherited autosomal dominant. To our knowledge, this is the first report of a familial isolated persistent papillary membrane case with no other anterior chamber abnormality.

Intravitreal Triamcinolone Acetonide Treatment for Serpiginous Choroiditis

Purpose: To report the efficacy of intravitreal triamcinolone acetonide injection for acute treatment of a patient with serpiginous choroiditis. Methods: A 50-year-old male patient with serpiginous choroiditis presenting with the complaint of decreased visual acuity in his right eye for the last 10 days. The best corrected visual acuity (BCVA) of the patient was counting finger from 1 meter. Fundus examination and fundus fluorescein angiography of right eye revealed active macular choroiditis in right eye. Intravitreal triamcinolone acetonide (4 mg/0.1 ml) was injected into vitreous, and the patient was followed with visual acuity testing, intraocular pressure measurement, and fundus examination, including fundus fluorescein angiography. Results: Visual acuity of the patient improved to 20/100 after 2 weeks in spite of the triamcinolone crystals, and to 20/50 after 4 weeks with a single dose intravitreal triamcinolone acetonide injection. Complete resolution of the active lesion has been maintained during the 6 months of follow-up. Conclusions: Single dose intravitreal triamcinolone acetonide injection is sufficient for controlling the active lesions in serpiginous choroiditis. It needs further evaluation as an alternative treatment for achieving rapid and significant visual acuity recovery.

Simultaneous Papilledema and Optic Disc Drusen in a Child

Idiopathic intracranial hypertension is a headache syndrome characterized by elevated intracranial pressure with normal cerebrospinal fluid content, normal cranial imaging, and elevated appearance of the optic disc. We report on a 6.5-year-old boy with complaints of headache and right esotropia causing diplopia. A lumbar puncture indicated an opening cerebrospinal fluid pressure of 28 cm H(2)O. The headache, diplopia, and esodeviation resolved after the lumbar puncture. However, at 2-week follow-up, the elevated appearance of the optic disc continued despite normal cerebrospinal fluid pressure. A second ophthalmologic consultation revealed optic disc drusen, as also demonstrated by ocular ultrasonography. To date, two such cases have been reported in the literature. To our knowledge, this patient is the youngest with coexisting optic disc drusen and idiopathic intracranial hypertension.

Effects of intravitreal bevacizumab in repeated doses: an experimental study.

Purpose: To evaluate the effects of repeated 1.25-mg intravitreal bevacizumab injections on cornea and uveoretinal tissues using histologic and biochemical analyses. Methods: Twenty-four New Zealand albino rabbits were used. Twelve rabbits received an injection of bevacizumab in their right eyes three times with an interval of 25 days (Group 1); their contralateral eyes served as controls (Group 2). Six rabbits had an injection of vehicle in both eyes (Group 3), with the same regimen as bevacizumab, and six rabbits’ eyes were used as a sham group (Group 4). Enucleated eyes were used for histologic and biochemical analyses, which included the activities of caspase 3 and 8 enzymes, glutathione content, catalase activity, and malondialdehyde content. Results: No inflammation in aqueous humor and no sign of corneal or uveoretinal toxicity was found in bevacizumab-injected eyes. The difference of activity of corneal caspase 8 enzyme between Groups 1 and 2 and between Groups 1 and 4 was statistically significant (P < 0.05). In the uveoretinal tissue, in Group 1, the activities of caspase 3 and 8 enzymes were the lowest, and uveoretinal malondialdehyde content was also significantly lower than Group 4. Conclusion: A repeated dose of intravitreal bevacizumab injection did not cause a toxic effect on cornea and uveoretinal tissue. Biochemically, it also did not cause any apoptosis, oxidative reaction, or lipid peroxidation. Instead, bevacizumab injection caused a considerable decrease in the apoptotic enzyme activities and lipid peroxidation in the uveoretinal tissue. Further studies are needed to be conducted for possible detrimental side effects and apoptotic and oxidative effects of repeated bevacizumab injections on both the injected and the contralateral eyes.