INTRODUCTION The presentation of cystic fibrosis is dependant upon which organs are affected. Common presentations include chronic respiratory infections and malabsorption. Patients with atypical disease tend to present late in childhood or as adults. Eye manifestations of cystic fibrosis are less well known. CASE PRESENTATION A 14-year-old Caucasian boy presented with tiredness and difficult...

Amblyopia is a unilateral or bilateral reduction of visual acuity secondary to abnormal visual experience during early childhood. It is one of the most common causes of vision loss and monocular blindness and is commonly associated with strabismus, anisometropia, and visual deprivation (in particular congenital cataract and ptosis). It is clinically defined as a two-line difference of best-corr...

PURPOSE To determine and compare the major causes of childhood blindness and severe visual impairment in Bhutan and Laos. DESIGN Independent cross-sectional surveys. METHODS This survey consists of 2 cross-sectional observational studies. The Bhutanese component was undertaken at the National Institute for Vision Impairment, the only dedicated school for the blind in Bhutan. The Laotian stu...

Retinopathy of prematurity (ROP) is a proliferative disease that affects prematurely born babies. Despite the progress in management and treatment obtained previously, ROP remains a major cause of childhood blindness in both developed and developing countries. The etiology and pathogenesis of ROP is still unclear despite the fact that some progresses have been obtained. Some factors, such as lo...

Observations are presented on a family with muscular weakness and wasting with an onset in childhood, predominantly affecting the proximal muscles in the upper limbs and the distal muscles in the lower. This was accompanied by contractures of the elbows and by pes cavus. Pseudohypertrophy was absent. Progression was slow, but an associated cardiomyopathy developed in adult life. Investigations ...