bardet-biedl syndrome (bbs) is one of the rare autosomal recessive disorders that affect multiple organs of the body. the signs and symptoms of this condition vary among affected individuals, even among members of the same family. we present a case of bbs with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...

OBJECTIVE To assess the clinical and molecular genetic studies of patients with autosomal recessive retinitis pigmentosa associated with a mutation in the arrestin gene. DESIGN Results of molecular genetic screening and case reports with DNA analysis and clinical features. SETTING University medical center. PATIENTS One hundred twenty anamnestically unrelated patients with autosomal reces...

PURPOSE To understand the sites of macular dysfunction in retinitis pigmentosa by evaluating focal electroretinogram (FERG) fundamental and second harmonic components, which are dominated by the activity of the outer and inner retina, respectively. METHODS FERGs were recorded in response to a uniform field (9 degrees x 9 degrees) flickered sinusoidally at either 8 Hz or 32 Hz. The fundamental...

BACKGROUND AND PURPOSE Diffusion tensor imaging may reflect pathology of the optic nerve; however, the ability of DTI to evaluate alterations of the optic nerve in retinitis pigmentosa has not yet been assessed, to our knowledge. The aim of this study was to investigate the diagnostic potential of reduced FOV-DTI in optic neuropathy of retinitis pigmentosa at 3T. MATERIALS AND METHODS Thirty-...

Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes a patient with retinitis pigmentosa caused by a mutation in the ABCA4 gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homo...

Unilateral retinitis pigmentosa is a rare disease characterized by loss of photoreceptors and retinal pigment deposition without affecting the contralateral eye. Although described more than one hundred years its existence is still questioned. This article reports a case of a patient with abnormalities suggestive of unilateral retinitis pigmentosa. The clinical and complementary examinations ar...

In the field of ophthalmology, gene therapy has focused on hereditary retinal dystrophy, including retinitis pigmentosa. Hereditary dystrophy is a group intractable diseases for which there currently no effective treatment, and expectations are regeneration using iPS cells. recent years, results number clinical trials therapies have been reported from Europe United States. Since 2017, drugs Leb...