Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.

ABSTRACT: Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by mutations in either TSC1 or TSC2 genes and is characterized by hamartomas in multiple organs. The most frequent and best-known ocular manifestation in TSC is the retinal hamartoma. Less frequent ocular manifestations include punched out areas of retinal depigmentation, eyelid angiofibromas, uveal colobomas, papilledema, and sector iris depigmentation. In this article, we report 2 patients carrying known pathogenic variants in the TSC2 gene who exhibited an atypical, unilateral, iris coloboma associated with localized areas of retinal dysembryogenesis.

Evidence-Based Treatment for Uveitis.

BACKGROUND: Uveitis is an inflammatory disorder of the uveal tract of the eye that can affect both adults and children. Non-infectious uveitis can be an expression of a systemic autoimmune condition, or it can be idiopathic. It is a serious disease, associated with possible severe complications leading to visual impairment and blindness. For this reason, a prompt diagnosis and assessment of an appropriate treatment, with the collaboration of specialists such as ophthalmologists and rheumatologists, are extremely important. Many treatment options may be associated to side effects; therefore, clinicians should follow a stepladder approach starting with the least aggressive treatments to induce remission of inflammation. In this review, we reported the current evidence-based treatments for non-infectious uveitis in pediatric and adult patients with particular attention to the biologic response modifier treatment options. Important multicenter studies have demonstrated the efficacy of adalimumab, both in adults (VISUAL I, VISUAL II, VISUAL III) and in children (SYCAMORE, ADJUVITE), while for other agents data are still scarce.

Transient Deficit of Accommodation After Laser Barrage for Retinal Tear.

PURPOSE: To report a case of transient loss of accommodation after laser photocoagulation for peripheral retinal tear. Loss of accommodation is one of the lesser known and less common complications of peripheral retinal laser photocoagulation. In fact, only a few works concerning this issue have been published so far. Deficit of accommodation has been described only after extensive laser treatment of the peripheral retina. To the best of our knowledge, this is the first case that reports this complication after treatment limited to a small retinal area. We discuss the possible pathogenetic mechanism of this phenomenon. CASE REPORT: A 25-year-old healthy myopic woman came to the eye clinic for flashes and floaters in her right eye. Fundus evaluation revealed a small horseshoe retinal tear at the 6 o'clock position. She was treated with prophylactic retinal laser barrage in the right eye. Twelve days later, she returned to our Retinal Clinic because of difficulty with near vision. The problem started soon after the laser procedure. On examination, her distance visual acuity was 20/20 wearing her glasses. The patient could read J1+ at 33 cm with the left eye and required a +3.00D addition over her corrective lens to read J1+ with the right eye. The accommodative disturbance resolved itself spontaneously and gradually within 3 months of laser treatment. CONCLUSIONS: We believe that transient loss of accommodation, although rare, should be included during pretreatment discussion with young patients regarding the possible side effects of laser photocoagulation, even if this is limited to a small area of the peripheral retina.

Conjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1.

Conjunctival lymphangiectasia, a rare condition characterized by dilated lymphatic channels in the bulbar conjunctiva, generally develops as a consequence of a local lymphatic scarring or distal mechanical outflow obstruction following surgery, radiotherapy, neoplastic disease, or other disease processes. The actual cause often remains unknown. We report a case of a unilateral conjunctival lymphangiectasia in a 7-year-old girl with neurofibromatosis type 1 (NF-1) and discuss a possible association between the two entities.

Comparative Study of 27-Gauge versus 25-Gauge Vitrectomy for the Treatment of Primary Rhegmatogenous Retinal Detachment.

Purpose. To compare the vitrectomy time, clinical outcomes, and complications between 27-gauge (27-G) and 25-gauge (25-G) vitrectomy in patients with primary rhegmatogenous retinal detachment (PRRD). Methods. Prospective, nonrandomized, comparative, interventional study. Forty consecutive patients with PRRD were recruited. Twenty patients underwent the 27-gauge procedure and twenty patients had the 25-gauge procedure. The main outcome measure of the study was the actual vitrectomy time. Results. The mean duration of vitreous removal was 23.2 min (SD 6.5) with 27-G vitrectomy and 19.6 min (SD 7.3) with 25-G vitrectomy, resulting in a difference of 3.6 min (95% confidence interval (95%CI): -8.0 to 0.8 mins, p = 0.11). Mean logMAR visual acuity improved from 1.70 ± 1.18 preoperatively to 0.12 ± 0.14 at final postoperative visit (p < 0.001) in the 27-G group and from 1.52 ± 1.15 preoperatively to 0.22 ± 0.30 at final postoperative visit (p < 0.001) in the 25-G group. The anatomical success rate after a single operation was 90.0% and 85.0% in the 27-G and in the 25-G groups (p = 0.63), respectively. Intraoperative iatrogenic retinal breaks (IRBs) occurred in 2 eyes in the 27-G group and 1 eye in the 25-G group. Conclusions. Twenty-seven-gauge vitrectomy may be a safe and effective surgery for the treatment of PRRD.

The Italian Catquest-9SF cataract questionnaire: translation, validation and application.

BACKGROUND: To validate the Catquest-9SF questionnaire in Italian, assess the change in visual disability with cataract surgery and determine the correlation between pre-operative Catquest-9SF scores and Lens Opacities Classification System (LOCS) III cataract grading. METHODS: Prospective, questionnaire validation study. The Catquest-9SF questionnaire was forward and back translated and completed by 209 Italian patients before and three months following cataract surgery. Rasch analysis was used to assess its psychometric properties. RESULTS: The Italian Catquest-9SF demonstrated ordered response categories, unidimensionality (item fit statistics range: 0.73-1.34), adequate person separation (2.04), and no differential item functioning. Mistargeting was evident with a mean difference in item difficulty and person ability of 2.04 logits but improved with inclusion of pre-operative data only. There was a statistically significant (Friedman tests, p < 0.001) median improvement in visual disability of 1.92, 3.57, 1.44 and 2.94 logits in patients undergoing first eye surgery with and without ocular comorbidity, and second eye surgery with and without ocular comorbidity respectively. There was no statistically significant difference in the improvements among the four groups (Kruskal-Wallis H test, X (2) (3) = 5.445, p = 0.142). There was no correlation between Catquest-9SF scores and nuclear opalescence (r s = 0.049, p = 0.478), nuclear colour (r s = 0.008, p = 0.909), cortical (r s = 0.066, p = 0.341), and posterior subcapsular components (r s = 0.048, p = 0.494). CONCLUSIONS: The Italian Catquest-9SF demonstrated good psychometric properties and is suitable for use in Italian speaking patients. There were similar improvements in visual disability in patients undergoing first or second eye surgery, with or without ocular comorbidity. There was no correlation between pre-operative Catquest-9SF scores and LOCS III cataract grading.

Intravitreal Anti-VEGF Injections in Pregnancy: Case Series and Review of Literature.

The use of intravitreal antivascular endothelial growth factor (anti-VEGF) injection is gaining wide acceptance as an off-label therapy for diseases that may affect pregnant women. However, these drugs may cause systemic side effects in the mother and fetal harm. This could lead specialists to not administer the drug or women to abort the fetus or to refuse treatment during pregnancy. We report the course of pregnancy in 3 women treated with intravitreal bevacizumab and provide a review of the literature on the use of intravitreal anti-VEGF in pregnancy. Our patients did not have any drug-related adverse event and delivered healthy full-term infants, although one of the women had risk factors for miscarriage. Infants reached all developmental milestones appropriately during infancy. A literature search on the use of intravitreal anti-VEGF injection in pregnancy was undertaken. Data for this review were identified by searches of PubMed and references from relevant articles using the search terms "pegaptanib," "bevacizumab," "ranibizumab," "aflibercept," "anti-VEGF," "intravitreal injection," "pregnant," "pregnancy," "abortion," "miscarriage," "preeclampsia," "embryo-fetal toxicity," "fetal malformations," "teratogenesis," "adverse events," and "maternofetal complications" in multiple combinations. We believe that intravitreal anti-VEGF can be given during pregnancy only when potential benefit to the woman justifies the potential risks to the fetus. When making a decision about whether to give drugs during pregnancy, it is important to consider the timing of exposure and its relationship to windows of developmental sensitivity. We believe that this review will be useful to specialists to inform and possibly treat their pregnant patients.

Inadvertent use of bevacizumab in pregnant women with diabetes mellitus type 1.

BACKGROUND: The use of vascular endothelial growth factor (VEGF) inhibitors may cause fetal harm and systemic side effects in the mother, so these drugs are contraindicated in pregnancy. We report a case of inadvertent administration of two intravitreal bevacizumab injections in a woman with diabetes mellitus type 1, 5 days before ovulation (±3 days) and during the 5th gestational week, respectively. The patient had a past history of both miscarriage and requirement for cesarean section for preeclampsia. METHODS: Observational case report. RESULTS: The patient did not have any drug-related adverse event and delivered a healthy full-term infant, reaching all developmental milestones appropriately during infancy. CONCLUSIONS: Intravitreal drug injections did not result in any detectable adverse event in the mother and infant although she had a significant past obstetric history. However, there have been no studies evaluating the effects of bevacizumab in pregnant women and suggesting that intravitreal drug injection in this patient is safe. Until more is known about this, it seems reasonable to avoid treatment with this drug a few weeks before and during pregnancy.

Subjective quality of vision before and after cataract surgery.

OBJECTIVE: To investigate the effect of cataract surgery on subjective quality of vision. METHODS: The Quality of Vision (QoV) questionnaire (Italian translation) was completed before and 3 months after cataract surgery in 4 groups of patients recruited from September through December 2010: first eye with ocular comorbidity, first eye without ocular comorbidity, second eye with ocular comorbidity, and second eye without ocular comorbidity. The questionnaire measures 3 aspects of quality of vision: frequency, severity, and bothersome nature of symptoms. The Lens Opacities Classification System (LOCS) III was used for cataract grading. Friedman and Kruskal-Wallis H tests were performed to compare QoV scores within and between groups. Spearman rank correlations (rs) were calculated to investigate the correlation between LOCS III and QoV symptoms. RESULTS: Two hundred twelve patients (mean [SD] age, 74.2 [8.7] years) were recruited, and 212 eyes were included in the study. Improvements in QoV scores were found in all 4 groups (P < .05). There were no statistically significant (P > .05) differences among the 4 groups in the improvement in QoV scores or in the preoperative or postoperative scores. Blurred vision was correlated with posterior subcapsular cataract (rs = 0.420, P = .04). CONCLUSIONS: Cataract in one or both eyes causes a similar loss in subjective quality of vision, which is also irrespective of the presence of ocular comorbidity. Posterior subcapsular cataract causes the specific symptom "blurred vision." Cataract surgery resulted in a large and comparable improvement in subjective quality of vision, regardless of ocular comorbidity and first or second eye surgery.