Best vitelliform macular dystrophy is an inherited autosomal dominant, juvenile onset form of macular degeneration caused by mutations in a chloride ion channel, human bestrophin-1 (hBest1). Mutations in Best1 have also been linked to several other forms of retinopathy. In addition to mutations, hBest1 dysfunction might come about by disruption of other processes that regulate Best1 function. H...

PURPOSE To investigate the causes of hyperreflective dots (HRDs) in spectral domain optical coherence tomography (OCT) excluding diabetic macular edema (DME) and RVO (retinal vein occlusion). PATIENTS AND METHODS The medical records of 56 patients with HRDs documented by OCT were reviewed retrospectively. The patients with DME and RVO were excluded from the study in order to prevent misdiagno...

A 2-year follow-up study was carried out on patients known to have developed aphakic macular oedema 6 weeks postoperatively, and the results were compared with those in a control group who had not developed oedema. Four eyes (12%) still had macular oedema, the visual acuities ranging between 6/5 and 6/9. There was no significant difference in visual acuities at 2 years between the 2 groups of p...

Vitelliform macular dystrophy (VMD/Best disease; MIM*153700) is an early-onset autosomal dominant disorder in which accumulation of lipofuscin-like material within and beneath the retinal pigment epithelium is associated with a progressive loss of central vision. Bestrophin, the protein product of the VMD gene, has four predicted transmembrane domains. There are multiple bestrophin homologues i...

INTRODUCTION Because of the availability of modern health facilities and moderately easy access to health services in the last 25 years, the blindness due to cataract and trachoma is expected to decline in Nepal. So it is felt that the causes of blindness need to be revised. OBJECTIVE To regroup the disease pattern leading to permanent blindness in patients attending a suburban multidisciplin...