BACKGROUND Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by a progressive loss of peripheral field vision (Tunnel Vision), eventual loss of central vision, and progressive night blindness. The characteristics of the...

PURPOSE To predict the progression to legal blindness in patients with isolated inherited retinitis pigmentosa. METHODS This retrospective study evaluated patients with isolated inherited retinitis pigmentosa for age at onset, duration of the disease, and best-corrected visual acuity in an Asian Indian cohort. The Mann–Whitney U test was used to analyze the variables. RESULTS Of 134 patient...

(1) HISTORICAL.-In the fully-developed state, choroideremia presents a characteristic and unmistakable picture of which Fig. 1 and Colour Plate 1(a and b) may be taken as examples. The almost total lack of choroidal vessels strongly suggests a developmental anomaly. In fact most of the early writers on, the subject, such as Mauthner (1872) and Koenig (1874), stressed the likeness to choroidal c...

AIMS To determine the molecular basis and describe the phenotype of an atypical retinal dystrophy in a family presenting with bilateral, progressive central visual loss. METHODS Family members were examined. Investigations included Goldman perimetry, electrophysiology, and autofluorescence imaging. Candidate gene screening was performed using SSCP and sequence analysis. The proband's lymphobl...

A brother and sister, children of normal parents are described. They had retinitis pigmentosa, causing near-blindness as a result of very narrow fields of vision, associated with metaphyseal chondrodysplasia and marked shortening of the metacarpals and terminal phalanges. Autosomal recessive inheritance is suggested with a common biochemical cause for all these defects. This apparently new asso...

A thirteen years old male patient of i was referred to our Dermatology D knees and hands. Patient was blind since birth and diagnosis of “retinitis pigmentosa” Ophthalmology Department. He was investigated and found raised levels of blood sugar, triglycerides, VLDL, TSH, SGOT/PT and kidney functions tests. He was diagnosed as a case of eruptive xanthomas with retinitis pigmentosa in secondary h...

introduction: in 1995, the world health organization (who) estimated that there were 37.1 million blind people worldwide. it has subsequently been reported that 110 million people have severely impaired vision, hence are at great risk of becoming blind. watkins predicted an annual increase of about two million blind worldwide. this study was designed to investigate the causes of blindness and l...

A patient presented with unilateral findings of night blindness shown by impaired rod function and dark adaptation, constricted visual fields with good central acuity, a barely recordable electro-retinographic b-wave, and a unilaterally impaired electro-oculogram. There were none of the pigmentary changes usually associated with retinitis pigmentosa. The unaffected right eye was normal in all r...

Stiles-Crawford functions were obtained from the maculas of 22 patients with different genetic types of retinitis pigmentosa and visual acuity of 20/40 or better. Reduced cone directional sensitivity was seen in the fovea with both focal cone electroretinographic testing and psychophysical testing. Functions from the parafovea determined with psychophysical testing showed either significant fla...

A 48-year-old male patient with diabetes mellitus and retinitis pigmentosa was admitted with complaints of weakness of both lower limbs and urinary incontinence of 1year duration. Fundoscopy was suggestive of retinitis pigmentosa. On admission, the power in the legs was about Grade 2. Plain X-ray showed a sickle-shaped defect of the sacrum scimitar sacrum (Figure 1). MRI showed an anterior pres...