Hereditary Retinal Dystrophy

2016 ◽  
pp. 337-367 ◽  
Author(s):  
Thomas C. Hohman
Keyword(s):  
Retinal Dystrophy ◽  
Hereditary Retinal Dystrophy

Retinal Transplantation, Stem Cell and Gene Therapy in Retinitis Pigmentosa

2021 ◽  
pp. 131-139
Keyword(s):  
Gene Therapy ◽  
Stem Cell ◽  
Retinitis Pigmentosa ◽  
Retinal Dystrophy ◽  
Gene Replacement ◽  
Disease Genes ◽  
Functional Roles ◽  
Tunnel Vision ◽  
Hereditary Retinal Dystrophy ◽  
Cell And Gene Therapy

Retinitis pigmentosa is the most common hereditary retinal dystrophy which has marked clinical and genetic heterogeneity. Common presentations among this disorder include night blindness, tunnel vision, and subsequent progression to complete blindness respectively. The known causative disease genes have a variety of developmental and functional roles, with mutations in more than 120 genes shown to be responsible for the phenotypes. In addition, mutations within the same gene have been shown to cause different disease phenotypes, even within the same family, highlighting further levels of complexity. In recent years significant advancements have been made in the understanding of the pathogenesis of the disease and stem cell and gene replacement treatments have been proposed as potentially efficacious therapies. This review summarizes the clinical development of retinal stem cell and gene therapy.

Diffuse Pigmented Lesions in the Outer Retina: An Unusual Fundus Appearance

2019 ◽  
Vol 4 (3) ◽  
pp. 243-247
Author(s):  
Matthew D. Benson ◽  
Uriel Rubin ◽  
Marvi Cheema ◽  
Ian M. MacDonald ◽  
Matthew T.S. Tennant ◽  
...  
Keyword(s):  
Phenotypic Diversity ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Retinal Dystrophy ◽  
Full Field ◽  
Panel Testing ◽  
Pigmented Lesions ◽  
Hereditary Retinal Dystrophy ◽  
Ultrasound Findings ◽  
Chest X Ray

Purpose: This report describes and provides a differential diagnosis for a patient with unusual bilateral retinal pigmented lesions. Methods: A 40-year-old woman was found to have multiple flat, gray lesions scattered across her fundi, becoming larger and more confluent toward the periphery. There were small drusenlike deposits in her foveae. The hyperpigmented lesions demonstrated hypoautofluorescence with thickening of the retinal pigment epithelium and disruption of the overlying layers on optical coherence tomography (OCT). Full-field electroretinography revealed generalized reduced a- and b-wave amplitudes. Results: Chest x-ray, breast ultrasound, mammography, and pelvic ultrasound findings were negative for malignant etiologic factors. Panel testing results for hereditary retinal dystrophy were negative. Conclusions: Although the clinical and OCT appearance of the lesions is similar to congenital grouped pigmentation, the symmetric and bilateral nature of ocular findings coupled with electroretinographic changes suggest a possible retinal dystrophy. This case adds to the phenotypic diversity of pigmented fundus lesions.

Hereditary retinal dystrophy in the rat: Rhodopsin, retinol, vitamin A deficiency

1975 ◽  
Vol 21 (4) ◽  
pp. 369-380 ◽  
Author(s):  
Michel Delmelle ◽  
Werner K. Noell ◽  
Daniel T. Organisciak
Keyword(s):  
Vitamin A ◽  
Vitamin A Deficiency ◽  
Retinal Dystrophy ◽  
Hereditary Retinal Dystrophy

INTRAVITREAL INJECTION OF AUTOLOGOUS BONE MARROW–DERIVED MONONUCLEAR CELLS FOR HEREDITARY RETINAL DYSTROPHY

Retina ◽  
2011 ◽  
Vol 31 (6) ◽  
pp. 1207-1214 ◽  
Author(s):  
Rubens C Siqueira ◽  
André Messias ◽  
Julio C Voltarelli ◽  
Ingrid U Scott ◽  
Rodrigo Jorge
Keyword(s):  
Bone Marrow ◽  
Intravitreal Injection ◽  
Mononuclear Cells ◽  
Retinal Dystrophy ◽  
Autologous Bone Marrow ◽  
Hereditary Retinal Dystrophy ◽  
Autologous Bone
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