PURPOSE To measure the rates of visual acuity, visual field, and ERG loss in patients with X-linked retinitis pigmentosa due to RPGR mutations and to determine whether these rates differ from those of patients with dominant retinitis pigmentosa due to RHO mutations. METHODS Snellen visual acuities, Goldmann visual field areas (V4e white test light), and 30 Hz (cone) full-field ERG amplitudes ...

Retinitis pigmentosa (RP) is a severe hereditary eye disease characterized by progressive degeneration of photoreceptors and subsequent loss of vision. Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal diseases. Germline mutations of CNGB1 is associated with retinitis pigmentosa. We have identified and investigated a 34-year-old Chinese man with markedly h...

BACKGROUND About 37 genes have been reported to be involved in autosomal recessive retinitis pigmentosa, a hereditary retinal disease. However, causative genes remain unclear in a lot of cases. METHODS Two sibs of a Chinese family with ocular disease were diagnosed in Eye and ENT Hospital of Fudan University. Targeted sequencing performed on proband to screen pathogenic mutations. PCR combine...

2 cases of laurence- moon-biedl syndrome are described in 2 rothers. they have 5 out of 6 cardinal symptoms of this syndrome i.e. : i) obesity ,2) genital dystrophia, 3) retinitis pigmentosa, 4)menal deficiency, 5) familial occurrence. besides, their only sister has ocular signs of beginning of retinitis igmentosa and one of their relatives had polydactylism and another ne cretinism. what is cu...

the authors describe two interesting and seldom cases of atrophia gyrata j and believe it to be a congenital hereditary disease with a recessive character. like retinitis pigmentosa, it does not affect the central posterior parts of the retina but the lesions are around the periphery. the visual fields are narrowed. they discuss; the similarity of this disease with atrophia gyrata described by ...

Serum copper, ceruloplasmin, and urinary copper were estimated in 13 normal subjects and 24 patients with primary retinitis pigmentosa. The serum copper levels in patients appeared to be higher and ceruloplasmin levels lower than in the normal subjects. The patients seem to fall into 2 categories with regard to urinary copper. About a third of them excreted 2-4 times more copper in the urine, w...

We have used a color matching technique to estimate the optical density of the foveal cone photopigments in a group of patients with retinitis pigmentosa. We find that foveal cone optical density is reduced in patients with retinitis pigmentosa. This reduction of density can occur early in the disease process and is found in patients with minimal visual field loss or 20/20 visual acuity. Foveal...