Ocular findings associated with FADD deficiency resemble familial exudative vitreoretinopathy.

Purpose: We report the first known case of eye findings associated with a Fas-associated protein with death domain (FADD) gene mutation, an exceedingly rare entity.

Observations: A 7-year-old boy was referred for decreased vision and eye examination revealed cystoid macular edema and peripheral retinal ischemia in both eyes and progression to tractional retinal detachment in the right eye.

Conclusions And Importance: This case suggests that baseline and annual ophthalmic screening may be beneficial in individuals with FADD mutations.

Clinical and imaging features of congenital and acquired isolated inferior rectus muscle hypofunction.

Background: Inferior rectus (IR) underaction may arise from various causes that are distinguishable through imaging. We investigated clinical and imaging characteristics of congenital and acquired causes of IR underaction.

Methods: Cases of IR underaction were selected from data prospectively collected in a study of orbital imaging in strabismic patients.

Modified Anterior Superior Oblique Tuck: A Case Series.

Purpose: Selection of the ideal procedure to correct symptomatic excyclotropia depends on several factors including the degree of torsion and associated vertical, horizontal and pattern deviation. Selective tuck of the anterior temporal torsional fibers of the superior oblique (SO) tendon is an alternative procedure to the classical Harada-Ito. The purpose of this study is to report its stability and results.

Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement.

We report the case of a 23-month-old girl with bilateral retinoblastoma that demonstrated absence of retinal lesions in one eye but had an isolated white tumor in the posterior chamber. Genetic testing confirmed a novel and de novo RB1 germline mutation in the proband that was not carried by her parents. After intravenous chemotherapy and brachytherapy to the eye with apparently disease-free retina, anatomic and functional preservation of the eye was achieved.

Mycophenolate Mofetil Therapy in Refractory Inflammatory Eye Disease.

Purpose: To study the efficacy and incidence of treatment-related side effects of mycophenolate mofetil (MMF) therapy in patients with noninfectious inflammatory eye diseases.

Methods: Retrospective cohort study of 27 Chilean patients treated for noninfectious inflammatory eye diseases using MMF therapy over a 10-year period. Main outcome measures were: ability to control ocular inflammation and to taper prednisone to ≤10 mg daily (treatment success); incidence of treatment-related side effects.

[Adenovirus keratoconjunctivitis acquired in an ophthalmology clinic].

Introduction: Eye infection is a common cause of ophthalmologic consultation. Adenovirus keratoconjunctivitis outbreaks are common worldwide but its impact and clinical characteristic in Chilean population is unknown.

Objective: To describe a series of adenovirus keratoconjunctivitis cases.

Comparison of the clinical efficacy of two different immunosuppressive regimens in patients with chronic vogt-koyanagi-harada disease.

Purpose: To prospectively compare 2 immunosupressive regimens in patients with active Vogt-Koyanagi-Harada disease in spite of systemic glucocorticoid treatment.

Methods: Forty-four patients were diagnosed between 1998 and 2005. Twenty-one developed chronic intraocular inflammation in spite of glucocorticoid treatment and were randomized to receive either prednisone and azathioprine (AZA) (n = 12) or prednisone and cyclosporine (CyA) (n = 9).

[Retrospective review of 44 Chilean patients with Behçet disease].

Background: Behçet's disease (BD) is a rare multisystemic inflammatory disease that is potentially disabling and may cause death.

Aim: To describe the characteristics of BD patients from two Chilean centers.

Patients And Method: Retrospective review of the clinical records of patients with BD attended in two rheumatology services between 1985 and 2007.