BACKGROUND Retinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease gene discovery. In this study, exome sequencing analysis was used to search for potentially causal DNA variants in a two-generation pedigree wit...

Mutations in the visual photoreceptor rhodopsin are the cause of the retinal degenerative disease retinitis pigmentosa. Some naturally occurring mutations can lead to protein conformational instability. Two such mutations, N55K and G90V, in the first and second transmembrane helices of the receptor, have been associated with sector and classical retinitis pigmentosa, respectively, and showed en...

In animal models of retinitis pigmentosa the dopaminergic system in the retina appears to be dysfunctional, which may contribute to the debilitated sight experienced by retinitis pigmentosa patients. Since dopamine D2-like receptors are known to modulate the activity of dopaminergic neurons, I examined the effects of dopamine D2-like receptor antagonists on the light responses of retinal gangli...

The relationship of the photopic and the scotopic b-wave amplitudes of the electroretinogram was studied in 85 normal subjects and 25 patients with autosomal dominant retinitis pigmentosa, in which one amplitude was at least 20 microvolts. The log quotient of their b-wave amplitudes--that is log of the photopic b-wave amplitude divided by the scotopic b-wave amplitude--was considered to represe...

IMPORTANCE X-linked retinitis pigmentosa is a severe inherited retinal degenerative disease with a frequency of 1 in 100,000 persons. Because no cure is available for this orphan disease and treatment options are limited, slowing of disease progression would be a meaningful outcome. OBJECTIVE To determine whether high-dose docosahexaenoic acid (DHA), an ω-3 polyunsaturated fatty acid, slows p...

IN an earlier communication (Brit. Ji. Obhthal., Vol. XXIV, p. 469, 1940), attention was drawn to the wide range of appearances seen in macular dystrophy. It was argued that the classical conception of a limited central lesion was not borne out by the actual data. In many cases there is considerable involvement of the peripheral zones, so much so that it was pointed out that to designate these ...

PURPOSE To understand the emotional difficulties associated with living with the ocular condition Retinitis Pigmentosa, and to examine the functioning of a self-report instrument used to assess this construct. METHODS The difficulty of goals and tasks in the emotional health domain of the Dutch ICF Activity Inventory were rated by 166 people with Retinitis Pigmentosa in a cross-sectional stud...

A 34-year-old woman who was revealed to have Usher’s syndrome is reported. She was diagnosed with sensorineural hearing loss necessitating the use of hearing aids at the age of 6 and started to have progressive night vision loss when she was a teenager. Few years later, she developed daytime peripheral vision loss. She had normal intrauterine life with an uncomplicated birth. She denied any diz...

Rhodopsin is the rod photoreceptor G protein-coupled receptor responsible for capturing light. Mutations in the gene encoding this protein can lead to a blinding disease called retinitis pigmentosa, which is inherited frequently in an autosomal dominant manner. The E150K opsin mutant associated with rarely occurring autosomal recessive retinitis pigmentosa localizes to trans-Golgi network membr...

AIM To report photographically the evolution of an astrocytic hamartoma of the left optic nerve head over a 2-year follow-up in a patient with retinitis pigmentosa. METHODS A 14-year-old boy was seen in the medical retina clinic with a 3-year history of night blindness. Best corrected visual acuity was 6/18 in both eyes. Colour vision was normal in both eyes and confrontation fields showed pe...