Retinitis pigmentosa and allied conditions today: a paradigm of translational research

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Abstract

Monogenic human retinal dystrophies are a group of disorders characterized by progressive loss of photoreceptor cells leading to visual handicap. Retinitis pigmentosa is a type of retinal dystrophy where degeneration of rod photoreceptors occurs at the early stages. At present, there are no available effective therapies to maintain or improve vision in patients affected with retinitis pigmentosa, but post-genomic studies are allowing the development of potential therapeutic approaches. This review summarizes current knowledge on genes that have been identified to be responsible for retinitis pigmentosa, the involvement of these genes in the different forms of the disorder, the role of the proteins encoded by these genes in retinal function, the utility of genotyping, and current efforts to develop novel therapies.

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Perspective on genes and mutations causing retinitis pigmentosa.

Elinor L. Sullivan, Sara Bowne, Stephen Daiger (2007)

Exceptional progress has been made during the past two decades in identifying genes causing inherited retinal diseases such as retinitis pigmentosa. An inescapable consequence is that the relationship between genes, mutations, and clinical findings has become very complex. Success in identifying the causes of inherited retinal diseases has many implications, including a better understanding of the biological basis of vision and insights into the processes involved in retinal pathology. From a clinical point of view, there are two important questions arising from these developments: where do we stand today in finding disease-causing mutations in affected individuals, and what are the implications of this information for clinical practice? This perspective addresses these questions specifically for retinitis pigmentosa, but the observations apply generally to other forms of inherited eye disease.

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A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa.

David B. Nicholson, C Weigel, Brett K. Hayes … (1993)

To determine whether supplements of vitamin A or vitamin E alone or in combination affect the course of retinitis pigmentosa. Randomized, controlled, double-masked trial with 2 x 2 factorial design and duration of 4 to 6 years. Electroretinograms, visual field area, and visual acuity were measured annually. Clinical research facility. 601 patients aged 18 through 49 years with retinitis pigmentosa meeting preset eligibility criteria. Ninety-five percent of the patients completed the study. There were no adverse reactions. Patients were assigned to one of four treatment groups receiving 15,000 IU/d of vitamin A, 15,000 IU/d of vitamin A plus 400 IU/d of vitamin E, trace amounts of both vitamins, or 400 IU/d of vitamin E. Cone electroretinogram amplitude. The two groups receiving 15,000 IU/d of vitamin A had on average a slower rate of decline of retinal function than the two groups not receiving this dosage (P = .01). Among 354 patients with higher initial amplitudes, the two groups receiving 15,000 IU/d of vitamin A were 32% less likely to have a decline in amplitude of 50% or more from baseline in a given year than those not receiving this dosage (P = .01), while the two groups receiving 400 IU/d of vitamin E were 42% more likely to have a decline in amplitude of 50% or more from baseline than those not receiving this dosage (P = .03). While not statistically significant, similar trends were observed for rates of decline of visual field area. Visual acuity declined about 1 letter per year in all groups. These results support a beneficial effect of 15,000 IU/d of vitamin A and suggest an adverse effect of 400 IU/d of vitamin E on the course of retinitis pigmentosa.

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Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

Beth L. Hahn, E Reichel, Eliot L. Berson … (1990)

Night blindness is an early symptom of retinitis pigmentosa. The rod photoreceptors are responsible for night vision and use rhodopsin as the photosensitive pigment. We found three mutations in the human rhodopsin gene; each occurred exclusively in the affected members of some families with autosomal dominant retinitis pigmentosa. Two mutations were C-to-T transitions involving separate nucleotides of codon 347; the third was a C-to-G transversion in codon 58. Each mutation corresponded to a change in one amino acid residue in the rhodopsin molecule. None of these mutations were found in 106 unrelated normal subjects who served as controls. When the incidence of these three mutations was added to that of a previously reported mutation involving codon 23, 27 of 150 unrelated patients with autosomal dominant retinitis pigmentosa (18 percent) were found to carry one of these four defects in the rhodopsin gene. All 27 patients had abnormal rod function on monitoring of their electroretinograms. It appears that patients with the mutation involving codon 23 probably descend from a single ancestor. In some patients with autosomal dominant retinitis pigmentosa, the disease is caused by one of a variety of mutations of the rhodopsin gene.

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Journal

Journal ID (nlm-ta): Genome Med

Title: Genome Medicine

Publisher: BioMed Central

ISSN (Electronic): 1756-994X

Publication date Collection: 2010

Publication date (Electronic): 27 May 2010

Publication date PMC-release: 27 May 2011

Volume: 2

Issue: 5

Page: 34

Affiliations

[1 ]Department of Medical Genetics, IIS-Fundación Jiménez Díaz/CIBERER, Av/Reyes Católicos no. 2; 28040, Madrid, Spain

[2 ]Unidad de Genética, Hospital Universitario La Fe/CIBERER, Avda. Campanar, 21, 46009 Valencia, Spain

Article

Publisher ID: gm155

DOI: 10.1186/gm155

PMC ID: 2887078

PubMed ID: 20519033

SO-VID: b8824a5d-3caa-465e-985b-3fd3c6ee4d27

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Retinitis pigmentosa and allied conditions today: a paradigm of translational research

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Most cited references 49

Perspective on genes and mutations causing retinitis pigmentosa.

A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa.

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

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