tions in the literature. This patient uniquely presented with a more dramatic macular pattern at a much later age than an average patient with CDSRR and had neither nyctalopia nor dyschromatopsia. This would suggest not only that the heterogeneity of phenotypes for CDSRR is much broader than the literature indicates but also that the patient’s 2 novel mutations are mild, having resulted in comp...

Vision loss is rarely associated with noninfectious human immunodeficiency virus (HIV) retinopathy in HIV positive patients with normal CD4 counts. 1 Ophthalmologists should be aware that HIV retinopathy may be the cause of visual loss in a subset of HIV patients without infectious neuroretinitis who are otherwise stable. Electrophysiological testing has high diagnostic value in these patients....

Paraneoplastic vitelliform retinopathy is a rare condition associated with metastatic melanoma. Like melanomaassociated retinopathy (MAR), it can cause nyctalopia and progressive vision loss; however, unlike MAR, the fundus shows multifocal, yellow-orange vitelliform lesions beneath the neurosensory retina and at the level of the retinal pigment epithelium, as well as areas of subretinal fluid ...

CASE REPORT The case of a fifty five year-old male with nyctalopia, photophobia, poor colour vision and nystagmus, is presented. The initial suspected diagnoses were achromatopsia and blue-cone monochromatism, since both are clinically indistinguishable. Optical coherence tomography (OCT) showed the characteristic foveal reflectivity pattern of achromatopsia. This diagnosis was subsequently con...

purpose: retinitis pigmentosa (rp) is a hereditary eye disease in human beings. it commences at childhood and continues by nyctalopia and gradual reduction of visual field and ends up by blindness. it may be inherited in three forms of autosomal dominant, autosomal recessive and sex-linked. in this investigation we intend to study rp type as a sex-linked disease and its location on x chromosome...