Mechanical eye injuries in children aged 0-15 years treated at the clinic of eye diseases in Belgrade: frequency, causes and preventive measures.

INTRODUCTION: Eye injuries represent a significant problem in children. OBJECTIVE: The aim of the study was to determine the incidence and causes of the eye injury and to propose measures of the eye injury prevention in children up to 15 years of age. METHODS: This was a retrospective study of 552 children with the eye injuries treated at the Clinic of Eye Diseases in Belgrade during the period March 1999 to February 2010. Gender and age of the children, time of injury, the type and site of injuries, visual acuity upon admission and at discharge, as well as the time of surgery in relation to time of injury were analysed. RESULTS: The ratio between the injured boys and girls was 3.6:1.The highest percentage of injured children was in the group 6-10 years old (39.7%); the injuries were almost evenly distributed according to months during the year and days during the week. The percentages of severe closed and open injuries of the eyeball were almost equal. Visual acuity upon discharge and subsequent follow-up examinations were significantly improved after the applied treatment in comparison with the visual acuity upon admission. CONCLUSION: Eye injuries in children still represent a severe health problem. Regarding the youngest age group of children, adults are mainly responsible for these injuries due to their lack of attention, while in older children these injuries are the result of the production and distribution of inappropriate toys and a failure to implement the legal traffic regulations applicable to children.The prevention of eye injuries is essential.

Evaluation of visual evoked potentials in patient with angelmans syndrome - case report.

BACKGROUND: Angelman syndrome (AS) is a genetic disorder with varying degrees of neurological impairment. It is often associated with ocular involvement. CASE REPORT: We present a child diagnosed with AS who had a deletion on the short arm of chromosome 15. The child seemed to be happy, with developmental delay, speech problem, and altering strabismus. To assess the potential presence and degree of damage in the visual pathway, we recorded monocular flash visual evoked potentials (VEPs). Our results revealed the presence of severe central afferent dysfunction in both optical pathways. CONCLUSION: VEPs can be used in patients with AS and visual disturbances to assess the integrity of the visual system.

[Contribution and significance of Heidelberg Retinal Tomography II in diagnostics of ocular hypertension and its conversion into primary open-angle glaucoma].

BACKGROUND/AIM: A term "ocular hypertension" is used when IOP is found to be >21 mmHg on two consecutive occasions, in the absence of detectable glaucomatous damage. The aim of this study was to determine the significance and contribution of Heidelberg Retinal Tomography II (HRT II) results that show very early, subtle changes in retinal neurofibre layers (RNFL) in the optic nerve head that are specific for glaucoma itself (the loss of neuroretinal rim area and an increase of Cup/Disc ratio), but are not possible to register by an ophthalmoscope. Also, when the results of the functional tests remain unchanged, that confirms the conversion of ocular hypertension into glaucoma. METHODS: During a 5-year study period (2002-2007), 29 patients with ocular hypertension were examined. The frequency of control examinations, based on the presence of risk factors for glaucoma development, was 3-6 months. The examination also included IOP measurements with Goldmann Applanation Tonometry (GAT), central corneal thickness (CCT) determination by pachymetry, the examination of chamber angle using indirect gonioscopy, visual field tests by computerized perimetry and also papillae nenr optic (PNO) examination by using HRT II. The application of HRT II enables a great number of stereometric parameters of optic disc, the most important being the rim area and Cup/Disc (C/D) ratio, which was followed during the control examination by each segment, as well as PNO in global. RESULTS: In the examination period, three cases of conversion of ocular hypertension into a primary open-angle glaucoma were found. In the group of patients with ocular hypertension, HRT II results after six months did not show a significant increase in C/D ratio. No significant loss of rim area or rim volume was found either. In three cases of conversion, HRT II results after 3 months showed an increase of C/D ratio and also a significant loss in rim volume at first examination (0.413) comparing to the last one. CONCLUSION: In diagnosing ocular hypertension and its conversion to glaucoma, HRT II is used for quantitative evaluation of retinal topography and for quantitative monitoring of topographical changes, especially regarding the increase of C/D ratio and loss of rim volume tissue, which enables to see and register subtle structural changes in optic nerve head and RNFL that are so characteristic for glaucoma, which cannot be seen by an ophthalmoscope. With these results, according to risk factors for glaucoma, one can confirm the diagnosis of ocular hypertension and its conversion to primary open-angle glaucoma. In this study HRT II revealed conversion of ocular hypertension into glaucoma in 10% of the patients.

[Gigantic ovarian and suprarenal cysts ten years after enucleation of unilateral retinoblastoma].

INTRODUCTION: Retinoblastoma (RB) is the most common eye tumour in children and is curable. Patients with hereditary RB have increased risk of developing additional tumours, predominantly sarcomas. The published results on the treatment of bilateral RB have shown that 10-15% of patients develop second primary tumours (SPT). Average latent period, e.g. the period from the diagnosis of bilateral RB to the appearance of SPT is 10.4 years. In the literature, the appearance of second benign tumours in patients suffering from unilateral and bilateral RB has not been analyzed separately. However, the size and the location of benign tumours can cause serious complications. CASE OUTLINE: We present a 14-year-old female patient. At age 4 years, her left eye was enucleated owing to unilateral RB. In the postoperative period, she did not undergo irradiation, nor did she receive chemotherapy. On her regular ophthalmologic check-up, the patient informed us that her belly was "swelling" over the past four months. She had no pains or other complaints. The abdomen was significantly above the level of the chest, tense, painless on palpation, with obvious fluctuations. Abdominal echosonography confirmed the presence of a huge multilocular cystic formation, 19 x 18 cm in diameter, spreading from the pelvis to the epigastrium, and pressing the liver and spleen. A cyst of 4.7 cm in diameter was observed in the upper pole of the left kidney. Both the gigantic cyst of the left ovary (weighing 10300 g) and the left suprarenal cyst (weighing 30 g) were removed. CONCLUSION: We report a patient who developed second non-ocular tumours (ovarian and suprarenal cysts) after successful treatment of unilateral RB. Patients treated for RB (hereditary and non-hereditary) should be checked regularly and meticulously. Early recognition of tumours, treatment can prevent possible complications.

New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implications.

The purpose of this work was to identify germ line RB1 mutations in 16 Serbian retinoblastoma patients for genetic counselling. Mutation analysis was carried out by PCR directed sequencing of the 27 exons. Loss of heterozygosity for two RB1 intragenic markers was also analyzed in 14 tumour samples. Five new RB1 oncogenic mutations (g.2078 del C, g.77047_48 del GC, g.78117_8 del TT, g.160797 del T, and g.64439+2 T>C) and two recurrences (R445X and Q383X) have been found in this study. In addition, four intronic variants were observed germ line in some unilateral patients. Two of these variants (g.44668-15T/G, and g.166204-8T/A) are discussed as potential oncogenic mutation candidates. The results show the relevance of studies aimed to investigate the role of intronic variants in exon splicing regulation. Such studies will help to disclose hidden retinoblastoma susceptibilities, important for accurate genetic counselling.