Age-related macular degeneration (AMD) is a chronic degenerative disease of the macula (central part of the retina) that in its late or advanced stage results in progressive loss of central vision.1 There are 2 stages of this disease: early AMD, characterized by the appearance of a lipid-like deposit called drusen, and late AMD, in which patients have loss of vision as a consequence of 1 of 2 p...

To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa at the age of 12 years. His puberty was delayed. At 16 years of age, the patient experienced pro...

PURPOSE Birdshot chorioretinopathy (BCR) is a bilateral, chronic uveitis primarily involving the posterior segment that often results in progressive vision loss. Histopathology on eyes with BCR has been limited, but we had the rare opportunity to study the eyes of a donor with BCR. We sought to compare immunolabeling in the eyes of this donor who was treated with immunosuppression for over 30 y...

A 7-year-old Afghani girl was referred to the retina clinic of Massachusetts Eye and Ear for a chronic-appearing, macula-off retinal detachment in the left eye. On examination, best-corrected visual acuity was 20/400 in the right eye and 20/800 in the left eye. She had bilateral horizontal nystagmus. Ophthalmoscopy revealed prominent choroidal vessels, chorioretinal atrophy in the macular area,...

Progressive retinal atrophy is a common cause of blindness in the dog and affects >100 breeds. It is characterized by gradual vision loss that occurs due to the degeneration of photoreceptor cells in the retina. Similar to the human counterpart retinitis pigmentosa, the canine disorder is clinically and genetically heterogeneous and the underlying cause remains unknown for many cases. We use a ...

INTRODUCTION Optical coherence tomography (OCT) with retinal segmentation analysis is a valuable tool in assessing axonal loss and neuro-degeneration in multiple sclerosis (MS) by in-vivo imaging, delineation and quantification of retinal layers. There is evidence of deep retinal involvement in MS beyond the inner retinal layers. The ultra-structural retinal changes in MS in different MS phenot...