This work is licensed under a Creative Commons Attribution 3.0 License. "mTORC1 sustains vision in retinitis pigmentosa" (2015).

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...

CASE REPORT A 25-year-old woman, with metamorphopsia in her left eye of one year onset. The examination revealed a bilateral cystoid macular oedema (CME) and vascular attenuation. We describe the diagnostic tests, as well as differential diagnosis and treatment response with carbonic anhydrase inhibitors. DISCUSSION The retinitis pigmentosa sine pigment is a subtype of atypical retinitis pigm...

THE appearances of the fundi in choroideremia have fascinated ophthalmologists since the first cases were described by Mauthner (1871). This author differentiated the condition from retinitis pigmentosa. His two cases had night-blindness and constricted visual fields, but in addition there was marked choroidal atrophy giving a brilliant white appearance to the fundi, the retinal vessels were no...

in patients with nonarteritic anterior ischemic optic neuropathy. Differential diagnosis of concentric visual field defects using electrophysiological methods. patterns of cone degeneration in retinitis pigmentosa with concentric narrowing of the visual field. electroretinograms and visual evoked potentials in retinitis pigmentosa. Documenta of multifocal electroretinograms obtained under monoc...

PURPOSE To report case of retinitis pigmentosa in association with rhegmatogenous retinal detachment. METHODS An eight year old boy complained of a sudden visual loss. The patient had night blindness, bone spicule-like hyperpigmentation, pale optic disc in both eyes, and the retina was totally detached in the right eye. RESULTS He was initially treated with conventional scleral buckling sur...

Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia. The relationship between Usher syndrome and mental disorders, most commonly a "schizophrenia-like" psychosis, is sometimes described in the literature. The etiology of psychiatric expression of Usher syndrome is still unclear. We reported a case...

Six patients with various forms of retinitis pigmentosa who were misdiagnosed as having neurologic disease are presented. In five of the patients, visual field defects were misinterpreted as being secondary to a neurologic rather than a retinal problem. In two patients, optic nerve drusen, which accompanied the retinal degeneration, were mistaken for papilledema. Since the diagnosis of retiniti...

DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence...