Ioannis Asproudis

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.

Spectrum and frequency of ophthalmologic manifestations in patients with inflammatory bowel disease: a prospective single-center study.

Background: The frequency and spectrum of ophthalmologic manifestations in patients with inflammatory bowel disease (IBD) has been reported to vary among studies; however, rare and silent manifestations have not been extensively studied. Methods: This was a prospective study of 60 patients diagnosed with IBD who underwent full ophthalmologic examination, including visual acuity, slit lamp examination of the anterior segments, intraocular pressure, and fundus examination accompanied by color photography. Thirty‐seven (61,7%) patients were diagnosed with ulcerative colitis (UC) and 23 (38,3%) with Crohns disease (CD). Data from 276 control individuals were used for the determination of the prevalence of dry eye in our area. Results: Ophthalmologic manifestations were diagnosed in 26 (43%) patients (14 UC, 12 CD; 12 males and 14 females). Conjunctivitis was diagnosed in 1 patient (CD), episcleritis in 2 patients (UC), and iridocyclitis in 3 (CD). Fundus examination showed 1 patient (CD) with unilateral choroiditis, 1 (UC) with retinal vasculitis, and 1 (CD) with optic neuritis. Retinal pigment epithelium disturbances (RPED) were present in 3 patients (1 CD, 2 UC) and 2 had serous retinal detachment. In total, 13/60 patients (22%) had dry eye compared with the 11% prevalence in controls. Eight patients developed glucocorticosteroid‐induced cataracts, 2 of them treated surgically. Conclusions: This study demonstrated the prevalence of the spectrum of ophthalmologic manifestations in the IBD population, including some rare and silent findings that may merit consideration and early intervention.

Artisan aphakic intraocular lens implantation in cases of subluxated crystalline lenses due to Marfan syndrome.

PURPOSE To assess implantation of an Artisan aphakic intraocular lens (IOL) in cases with subluxated lenses due to Marfan syndrome. METHODS Retrospective study of a small case series comprised of seven eyes (two children and three adults) with subluxated lenses due to Marfan syndrome that underwent lens extraction and Artisan aphakic IOL implantation. Best spectacle-corrected visual acuity and endothelial cell status were the key elements of follow-up examinations. RESULTS No complications occurred during surgery. Visual acuity was improved by > or = 4 Snellen lines in all seven eyes. These results were maintained at the last follow-up. Endothelial cell status remained constant in all cases at 6-month follow-up. CONCLUSIONS In seven eyes with a subluxated crystalline lens due to Marfan syndrome, implantation of an Artisan aphakic IOL improved visual acuity while preserving anterior chamber status.

Intravitreal Dirofilariasis: A Rare Ocular Infection

Human ocular dirofilariasis is a zoonotic disease, rare in Europe, caused by filarial nematodes. The parasite is either encysted in a subcutaneous nodule or located under the bulbar conjunctiva. We report the case of a 62-year-old man with intravitreal dirofilariasis, which is a rare site of presentation of the nematode in the human eye. It was located in the fundus area and was surgically removed. The nematode was identified as Dirofilaria repens (D. conjuctiva) by two different Microbiology Departments, making this the fifth report of identified intravitreal dirofilariasis caused by D. repens in the relative literature.

A case of nonarteritic anterior ischemic optic neuropathy of a male with family history of the disease after receiving sildenafil

A 51-year-old male was referred to the University Eye Clinic of Ioannina with nonarteritic anterior ischemic optic neuropathy (NAION) 12 hours after receiving sildenafil citrate (Viagra®). Examination for possible risk factors revealed mild hypercholesterolemia. Family history showed that his father had suffered from bilateral NAION. Although a cause-and-effect relationship is difficult to prove, there are reports indicating an association between the use of erectile dysfunction agents and the development of NAION. Physicians might need to investigate the presence of family history of NAION among systemic or vascular predisposing risk factors before prescribing erectile dysfunction drugs.

Idiopathic intracranial hypertension and facial palsy: case report and review of the literature.

We present the case of an 11-year-old obese girl who presented with idiopathic intracranial hypertension affecting first the lateral abducens nerve. She received acetazolamide, but 5 days later she developed lateral, peripheral facial palsy. Imaging evaluation was normal, which primarily excluded cerebral venous thrombosis and sustained the initial diagnosis. Despite some complicating factors (obesity, elevated intracranial pressure), prednisolone was administered for a short-term period to counteract the facial palsy. Ophthalmological residuals resolved within almost 1.5 months, while facial palsy receded after 4 months. Peripheral facial palsy is an extremely rare, but not unknown condition in idiopathic intracranial hypertension. As a symptom, it should be investigated thoroughly, primarily to exclude cerebral venous sinus thrombosis, before it can be attributed to idiopathic intracranial hypertension. As far as treatment is concerned, corticosteroids can be added to the initial treatment with acetazolamide, without worsening already elevated intracranial hypertension or ophthalmologic findings.

Primary mantle cell lymphoma of the conjunctiva: a case report.

Primary non-Hodgkin’s lymphomas of the conjunctiva are uncommon. They are almost exclusively extranodal marginal zone B-cell lymphomas/mucosa-associated lymphoid tissue lymphomas. In this study, we report an extremely rare case of conjunctival mantle cell lymphoma in a 78-year-old man, presenting as a unilateral epibulbar mass.

Juvenile idiopathic arthritis-associated uveitis: Data from a region in western Greece

Objective To evaluate the characteristics and visual prognosis of juvenile idiopathic arthritis-associated uveitis (JIA). Methods A retrospective review was performed on 56 patients who met the criteria for JIA to identify those with uveitis and related complications. Patients were referred to and were examined in the Pediatric Department of the University Hospital of Ioannina, between 1995 and 2007. Results The prevalence of JIA-associated uveitis was high. Despite this and the related complications, the final visual outcome was satisfactory in the majority of the cases. Authors did not observe any correlation between prognosis and sex, age at the onset of uveitis or arthritis, pattern of arthritis, or positivity for antinuclear antibodies (ANA). Conclusion We found a remarkably high prevalence of uveitis and related ocular complications in 7 (28%) of the patients, and the rate of poor visual outcome was 12%.

Mosaic Trisomy r(14) Associated With Epilepsy and Mental Retardation

We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome.