During his lifetime the practicing ophthalmologist will see more than a few retinitis pigmentosa cases. It is his responsibility not only to diagnose and prognosticate this eye disease, but also to set aside a little time in which to advise the patient and his family on its genetic aspects. Retinitis pigmentosa has been established as a definite hereditary disorder. Therefore, the most importan...

PURPOSE Describing the ophthalmic findings of an exudative vasculopathy called as Coats-like retinitis pigmentosa on three patients. The etiology of the Coats-like retinitis pigmentosa is obscure. The principal theories have been discussed in this article. METHODS Three observational case series have been discussed. Complete ophthalmic examinations and color fundus photos, visual field, and f...

INTRODUCTION Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations. CASE PRESENTATION We present the cases of two brothers with a diagnosis of retinitis pigmentosa from childhood in whom Refsum disease was subsequently diagnosed midlife, after routine enquiry into hand and fe...

The family of inherited ocular diseases that is collectively known as retinitis pigmentosa is a major cause of progressive retinal disease worldwide. As such, this family of diseases has been the object of much scientific scrutiny, both clinical and basic. The recent application of molecular genetic analyses has heralded the rapid elucidation of the underlying gene defects in many cases. In thi...

PURPOSE To examine rhodopsin gene mutations in Japanese patients with retinitis pigmentosa. METHODS We performed a mutational analysis of the rhodopsin gene in 42 patients from 40 families with retinitis pigmentosa. Genomic DNA was amplified by polymerase chain reaction (PCR) and the PCR products were sequenced. Restriction enzyme analysis was performed in family members of 1 patient with a r...

AIM To describe a rare case of Vogt's limbal girdle in a boy with retinitis pigmentosa. METHODS A 13-year-old boy from India presented to us with progressive diminution of vision and nyctalopia for 5 years. On examination, he had the characteristic features of retinitis pigmentosa with the fundus showing disc pallor, bony spicules and arteriolar attenuation. His anterior segment examination s...

BACKGROUND The purpose of this study was to determine visual acuity at different contrast levels under photopic and mesopic conditions in patients with retinitis pigmentosa. METHODS Sixty eyes of 31 normal controls, 92 eyes of 52 patients with retinitis pigmentosa without other ocular disorders (RP-1 group), and 20 eyes of 14 patients with retinitis pigmentosa with cataracts and without other...