Contributions of the superoxide dismutase 1 and zinc finger protein 469 (ZNF469) genes to keratoconus.

Keratoconus (KC) is a multifactorial, progressive, degenerative corneal disorder with an incidence of approximately 1 in 2,000 subjects.

Contributions of VSX1 gene to keratoconus.

Keratoconus (KC) is a complex, genetically heterogeneous, multifactorial degenerative corneal disorder, with incidence of approximately 1 per 2000 of the population. KC follows an autosomal recessive or dominant pattern of inheritance and is, apparently, associated with genes which interact with environmental, genetic and/or other factors. The present report focuses on the VSX1 gene, for which there is general agreement that it is involved in KC and other corneal pathologies, and critically details the evidence for its involvement in KC.

Dark Adaptation in Patients with Primary Open-Angle Glaucoma, Pseudoexfoliation Glaucoma and Childhood Glaucoma.

Purpose To investigate the state of dark adaptation and macular blood flow in different forms of glaucoma. Methods Eighteen eyes of 18 patients with primary open-angle glaucoma, 14 eyes of 14 patients with pseudoexfoliation glaucoma, and 10 eyes of 10 patients with childhood glaucoma (CG) were examined by means of dark adaptometry, scanning-laser retinal flowmetry, and retinal tomography. Results All glaucomatous eyes had comparable optic disc excavation (one-way ANOVA, p = 0.138). Eyes with CG had significantly lower best-corrected visual acuity than the other groups (Tukey, all p < 0.0001). Macular perfusion was comparable in all three groups (one - way ANOVA, p = 0.08). The delay in rod-cone break time in the CG group was significantly higher than in the other groups (Tukey, all p < 0.0001). The scotopic sensitivity threshold in the CG group was significantly greater than in the other groups (Tukey, all p < 0.01). Conclusion This underlying dysfunction of dark adaptation may contribute, at least to some extent, to the decreased visual perception observed in patients with CG.

Surgical treatment of persistent fetal vasculature and visual rehabilitation: one-year followup.

We present the management and postoperative course of a persistent fetal vasculature (PFV) case. A four-year-old girl visited the Eye Department of Hippokration, General Hospital of Thessaloniki due to reduced visual acuity of her left eye. She was diagnosed with PFV and underwent surgery (lensectomy, capsulorhexis of the posterior capsule, insertion of an intraocular lens in the posterior chamber, and posterior vitrectomy) in order to dissect the PFV. Along with the postoperative medical care, she underwent intensive treatment for amblyopia. The postoperative course was uncomplicated, and the visual acuity of her left eye improved from hand movement to 20/25 with proper correction. Patients with unilateral PFV and gradually deteriorating visual acuity could be good candidates for a combined surgical procedure, as the one described above, with a good prognosis.

[Salzmann's nodular degeneration on a corneal graft 20 years after penetrating keratoplasty for keratoconus]. / Salzmann'sche noduläre Degeneration 20 Jahre nach perforierender Keratoplastik bei Keratokonus.

INTRODUCTION: We report a unique case of a young patient who underwent penetrating keratoplasty for keratoconus 20 years previously and presented in our department with visual deterioration due to Salzmann's nodular degeneration (SND) on the corneal graft, induced probably by underlying recurrent herpetic (HSV) keratitis. The patient was treated with phototherapeutic keratectomy (PTK) and despite the low endothelial density of the corneal graft, visual acuity was sufficiently restored. CONCLUSION: Treatment with PTK is a promising therapeutic option in SND to avoid repeat penetrating keratoplasty, even if the prognosis for the corneal graft is endangered by several risk factors (age of the graft, low endothelial density, subclinical recurrent HSV infection).

Safety and efficacy of adalimumab treatment in Greek children with juvenile idiopathic arthritis.

OBJECTIVES: To evaluate the safety and efficacy of adalimumab (AD) administration in patients with juvenile idiopathic arthritis (JIA). METHODS: Twenty-six patients were enrolled from January 2004 to January 2008 in this prospective observational study. Inclusion criteria were either unresponsiveness to disease-modifying anti-rheumatic drugs (DMARDs; n = 17) or to other anti-tumour necrosis factor (anti-TNF) agents (n = 9) or development of uveitis under other anti-TNFs (n = 2 of the 9). Efficacy was estimated using the American College of Rheumatology Pediatric (ACR Pedi) criteria. RESULTS: After 1-5 years of AD exposure, nine different adverse events (AEs) were recorded (12.6 AEs/100 patient-years), mainly mild respiratory tract infections and injection site-related reactions. Serious AEs (SAEs, 2.8/100 patient-years) were the development of abscess at the site of injection (n = 1) and lethal sepsis (n = 1). The ACR Pedi ≥ 30 responses for the first to the fifth year of treatment were 88.5, 57.7, 50.0, 34.6, and 11.5%, respectively. In total, 17 of the 26 (65.4%) patients responded to AD. Five of the 11 patients under steroids discontinued them 6 months post-treatment. Seven patients required weekly AD treatment to maintain remission and four of them benefited from this policy. Recurrent uveitis was hindered in three of the six patients, no new cases were recorded, and radiological regression was observed in two of the four patients with lesions. CONCLUSIONS: AD was safe and efficacious during the study period in the majority of patients. However, vigilance is required for the early detection of severe and potentially fatal infections. AD may control recurrent uveitis and radiological progression.

Triamcinolone acetonide for rare ocular manifestations of pemphigus vulgaris: a case report.

We present an interesting case of pemphigus vulgaris with severe and rare eye manifestations. An old lady with systemic and ocular manifestations of pemphigus vulgaris was treated with systemic corticosteroids and immunosuppressants, with no effect. Subconjunctival injection of triamcinolone acetate reduced the ocular signs and led to gradual reduction of the systemic medications.

Brain visual impairment in childhood: mini review.

Cerebral visual impairment (CVI) is one of the leading causes of severe visual impairment in childhood. This article was written to highlight any new knowledge related to cerebral visual impairment in childhood.The international literature was searched to describe the type of visual, oculomotor and / or visuo-perceptual disturbances and to discuss the prognosis. CVI children show a wide range of visual disturbances. These could be either visual, oculomotor, perceptual or a combination of all. The severity of CVI depends on the time, location and extend of the brain damage.The visual function seems to improve in CVI children, especially in the cortically damaged, mainly due to brain plasticity. The increased survival rate of very premature infants during the last decades has increased the incidence of CVI in childhood. Better understanding of the pathophysiological mechanisms of CVI, early diagnosis and early intervention could lead to a better quality of life of these children.

Focal 6-o'-clock Nd: YAG-capsulotomy for the treatment of early onset incomplete capsular block syndrome.

We report on a patient who developed capsular block syndrome (CBS) in the early postoperative period with marked myopic shift in absence of anterior dislocation of the posterior-chamber intraocular lens (PC/IOL) and iris diaphragm. Treatment with focal 6-o'-clock Nd: YAG-capsulotomy resulted in complete visual acuity restoration. To the best of our knowledge this is the fist case of early onset CBS with significant myopic shift in absence of anterior PC/IOL dislocation, which was successfully treated with focal 6-o'-clock Nd: YAG-capsulotomy. The possible underlying pathophysiological mechanism is discussed.

Impact of computer use on children's vision.

Today, millions of children use computers on a daily basis. Extensive viewing of the computer screen can lead to eye discomfort, fatigue, blurred vision and headaches, dry eyes and other symptoms of eyestrain. These symptoms may be caused by poor lighting, glare, an improper work station set-up, vision problems of which the person was not previously aware, or a combination of these factors. Children can experience many of the same symptoms related to computer use as adults. However, some unique aspects of how children use computers may make them more susceptible than adults to the development of these problems. In this study, the most common eye symptoms related to computer use in childhood, the possible causes and ways to avoid them are reviewed.

Can convulsions alone cause retinal haemorrhages in infants?

AIM: To evaluate the likelihood that, in children under the age of 2 years, convulsions alone may cause retinal haemorrhages. METHODS: Children under the age of 2 years admitted to hospital following convulsions, were examined within 48 hours of admission. The convulsions were classified by a paediatric neurologist and detailed ocular examination, including indirect ophthalmoscopy, was performed by an ophthalmologist. Statistical analysis was undertaken using Hanley's rule of three. RESULTS: 32 consecutive children admitted with convulsions were examined; 10 of them were admitted following epileptic seizures and 22 following febrile convulsions. Two of the children with febrile convulsions were admitted in status epilepticus. None of these children had retinal haemorrhages. Therefore, using Hanley's rule of three, the upper limit of 95% confidence interval of retinal haemorrhages following convulsions in children under the age of 2 years, is less than 10/100. CONCLUSIONS: In children under the age of 2 years convulsions alone are unlikely to cause retinal haemorrhages. By combining the results of this study with those previously reported from this unit in older children, the upper limit of 95% confidence interval of retinal haemorrhages, following convulsions in children under the age of 14 years, is less than 5/100. Therefore, the finding of retinal haemorrhages in a child admitted with a history of convulsion should trigger a meticulous search for other causes of these haemorrhages, particularly non-accidental injury.

A complication of peribulbar block in a patient with exophthalmos.

A patient with marked exophthalmos secondary to thyroid eye disease presented for tarsorrhaphy and removal of orbital fat. A single superolateral peribulbar injection was performed. After injection of 3.5 ml of local anaesthetic solution, the globe suddenly dislocated anteriorly. This complication has not been described previously. In patients with exophthalmos, general anaesthesia should be considered as the method of choice for ophthalmic procedures.