Ocular manifestations of intermediate cystinosis: To treat or not to treat?

PURPOSE: To report a case of intermediate cystinosis with an atypical presentation in which a delayed non-treatment decision has been proved right over a large period of time. METHODS: This is a unique case report of a patient who underwent full ophthalmologic evaluations including anterior chamber optical coherence tomography on a regular basis during a 7-year follow-up period. RESULTS: A 30-year-old woman with photophobia was being studied by the Department of Nephrology with a suspicion of Alport syndrome. Slit-lamp examination showed iridescent deposits throughout the corneal anterior stroma and the inferior tarsal conjunctiva bilaterally. Anterior chamber optical coherence tomography showed stromal hyperreflectivity. CTNS gene was found to be positive for c.416C>T (Ser139Phe) mutation. The patient was offered oral and topical cysteamine which was refused. After a period of 5 years of follow-up, general health status remained stable, corneal disease showed no progression and photophobia complaints diminished. However, the patient was advised to start systemic and topical cysteamine because of the unknown development of the disease. CONCLUSION: In this reported case, a delayed non-treatment decision has been proved right contrary to published evidence of active treatment of photophobia. The decision whether to treat or not to treat corneal involvement of the disease is not straightforward. Besides biomicroscopic evaluations, patients' complaints and expectations should be taken into account.

Tocilizumab in refractory juvenile idiopathic arthritis with associated uveitis: a case report.

INTRODUCTION: We report a 9-year follow-up of a child with refractory juvenile idiopathic arthritis (JIA) with associated uveitis in which tocilizumab proved to be effective in achieving disease control. CASE REPORT: A 16-month child was diagnosed with JIA and at the age of 3 developed bilateral non-granulomatous anterior uveitis. Throughout the follow-up, the patient presented frequent joint and ocular flares. Refractory anterior uveitis and topical corticosteroid therapy resulted in the development of bilateral cataract and high intraocular pressure (IOP). The patient underwent multiple ocular surgeries along with corticosteroids, immunosuppressive therapy with Methotrexate and Adalimumab failing to reach disease control. Only after the introduction of Tocilizumab a lower disease activity was achieved. DISCUSSION: Management of JIA-associated uveitis is challenging and requires a close collaboration between paediatric rheumatologists and ophthalmologists. Clinical remission can be difficult to achieve. However, one should always pursuit JIA inactivity with IOP and inflammation control. This report supports Tocilizumab as a useful therapeutic option for JIA-associated uveitis.

Enterococcus faecalis Endogenous Endophthalmitis from Valvular Endocarditis.

We report a case of a 74-year-old female, with a mitral heart valve, who presented with pain and blurred vision in the right eye for 2 days. Her visual acuity was light perception (LP) in the right eye and 20/40 in the left eye. Slit lamp examination showed corneal edema and hypopyon, and a view of the right fundus was impossible. Echography showed vitreous condensation. One day after presentation, the patient developed acute lung edema requiring hospitalization, so she was not submitted to vitreous tap and intravitreal treatment. The cardiac and systemic evaluations revealed a mitral endocarditis secondary to Enterococcus faecalis. The patient improved systemically with treatment with gentamicin, vancomycin, and linezolid. Her visual acuity remained as no LP, and her intraocular pressure (IOP) has been controlled with brimonidine bid despite developing a total cataract with 360° posterior synechia. A cardiac source for endogenous endophthalmitis should be considered in the presence of a prosthetic cardiac valve. The treatment and followup must be made in cooperation with a cardiologist specialist, but the ophthalmologist can play a key role in the diagnosis.

Immune recovery uveitis masked as an endogenous endophthalmitis in a patient with active CMV retinitis.

Cytomegalovirus (CMV) retinitis may occur in profoundly immunocompromised patients and be the initial AIDS-defining infection. The incidence and prevalence of CMV retinitis has declined substantially in the era of highly active antiretroviral therapy (HAART); nevertheless, it remains a leading cause of ocular morbility. We report the case of a 40-year-old man with blurred vision and pain in the right eye, three weeks after the initiation of effective HAART treatment. Ocular examination revealed a panuveitis causing an anterior chamber reaction with hypopyon and a dense vitreous haze. An endogenous endophthalmitis was suspected and treatment was ensued, without improvement. A vitreous tap was performed, and a positive polymerase chain reaction for CMV was found. A diagnosis of immune recovery uveitis (IRU) was made, and the patient responded to treatment with valganciclovir and dexamethasone. IRU is an intraocular inflammation that develops in patients with HAART-induced immune recovery and inactive CMV retinitis, although cases of active CMV retinitis have been described. Presentation with panuveitis and hypopion is rare and may be misleading regarding diagnosis and management.

Endogenous endophthalmitis caused by Pseudomonas aeruginosa in a preterm infant: a case report.

Endophthalmitis is an infection of the vitreous or aqueous humor of the eye. Although it rarely occurs in the neonatal period it has been previously diagnosed in preterm infants.Endogenous endophthalmitis is when eye infection is secondary to septicemia and represent 20% of the cases of endophthalmitis. Pseudomonas aeruginosa is responsible for more than 75% of invasive neonatal eye infections. The course of pseudomonal endophthalmitis is typically fulminant, developing over hours even in early diagnosis. For survivors, the usual result is blindness of the affected eye.We report the case of a preterm infant who developed septicemia and was later diagnosed as having a pseudomonas endophthalmitis.