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Retinitis pigmentosa.

Hamel C - Orphanet J Rare Dis (2006)

Bottom Line: Genetic counseling is always advised.The therapeutic approach is restricted to slowing down the degenerative process by sunlight protection and vitaminotherapy, treating the complications (cataract and macular edema), and helping patients to cope with the social and psychological impact of blindness.However, new therapeutic strategies are emerging from intensive research (gene therapy, neuroprotection, retinal prosthesis).

View Article: PubMed Central - HTML - PubMed

Affiliation: Inserm U, 583, Physiopathologie et thérapie des déficits sensoriels et moteurs, Institut des Neurosciences de Montpellier, Hôpital Saint-Eloi, BP 74103, 80 av, Augustin Fliche, 34091 Montpellier Cedex 05, France. hamel@montp.inserm.fr

ABSTRACT
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the first symptom is night blindness, followed by the progressive loss in the peripheral visual field in daylight, and eventually leading to blindness after several decades. Some extreme cases may have a rapid evolution over two decades or a slow progression that never leads to blindness. In some cases, the clinical presentation is a cone-rod dystrophy, in which the decrease in visual acuity predominates over the visual field loss. RP is usually non syndromic but there are also many syndromic forms, the most frequent being Usher syndrome. To date, 45 causative genes/loci have been identified in non syndromic RP (for the autosomal dominant, autosomal recessive, X-linked, and digenic forms). Clinical diagnosis is based on the presence of night blindness and peripheral visual field defects, lesions in the fundus, hypovolted electroretinogram traces, and progressive worsening of these signs. Molecular diagnosis can be made for some genes, but is not usually performed due to the tremendous genetic heterogeneity of the disease. Genetic counseling is always advised. Currently, there is no therapy that stops the evolution of the disease or restores the vision, so the visual prognosis is poor. The therapeutic approach is restricted to slowing down the degenerative process by sunlight protection and vitaminotherapy, treating the complications (cataract and macular edema), and helping patients to cope with the social and psychological impact of blindness. However, new therapeutic strategies are emerging from intensive research (gene therapy, neuroprotection, retinal prosthesis).

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Fundus of patient with retinitis pigmentosa, end stage (Pigment deposits are present all over the retina. Retinal vessels are very thin and optic disc is pale.)
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Figure 3: Fundus of patient with retinitis pigmentosa, end stage (Pigment deposits are present all over the retina. Retinal vessels are very thin and optic disc is pale.)

Mentions: In the end stage, patients can no longer move autonomously, as a result of peripheral vision loss (classical tunnel vision), with few degrees of remaining visual field around the fixation point. Reading is difficult and magnifying glasses are necessary. Photophobia is intense. Fundus examination (Figure 3) reveals widespread pigment deposits reaching the macular area. Vessels are thin and the optic disc has a waxy pallor. Fluorescein angiography detects chorioretinal atrophy in the periphery and also in the foveomacular area. The ERG is unrecordable. Even at this stage, the disease progression remains slow, with patients being able to read short passages for years, while being totally incapable to move. However, reading becomes impossible when the central visual field vanishes. Usually, patients continue to perceive light, often in the peripheral visual field.


Retinitis pigmentosa.

Hamel C - Orphanet J Rare Dis (2006)

Fundus of patient with retinitis pigmentosa, end stage (Pigment deposits are present all over the retina. Retinal vessels are very thin and optic disc is pale.)
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC1621055&req=5

Figure 3: Fundus of patient with retinitis pigmentosa, end stage (Pigment deposits are present all over the retina. Retinal vessels are very thin and optic disc is pale.)
Mentions: In the end stage, patients can no longer move autonomously, as a result of peripheral vision loss (classical tunnel vision), with few degrees of remaining visual field around the fixation point. Reading is difficult and magnifying glasses are necessary. Photophobia is intense. Fundus examination (Figure 3) reveals widespread pigment deposits reaching the macular area. Vessels are thin and the optic disc has a waxy pallor. Fluorescein angiography detects chorioretinal atrophy in the periphery and also in the foveomacular area. The ERG is unrecordable. Even at this stage, the disease progression remains slow, with patients being able to read short passages for years, while being totally incapable to move. However, reading becomes impossible when the central visual field vanishes. Usually, patients continue to perceive light, often in the peripheral visual field.

Bottom Line: Genetic counseling is always advised.The therapeutic approach is restricted to slowing down the degenerative process by sunlight protection and vitaminotherapy, treating the complications (cataract and macular edema), and helping patients to cope with the social and psychological impact of blindness.However, new therapeutic strategies are emerging from intensive research (gene therapy, neuroprotection, retinal prosthesis).

View Article: PubMed Central - HTML - PubMed

Affiliation: Inserm U, 583, Physiopathologie et thérapie des déficits sensoriels et moteurs, Institut des Neurosciences de Montpellier, Hôpital Saint-Eloi, BP 74103, 80 av, Augustin Fliche, 34091 Montpellier Cedex 05, France. hamel@montp.inserm.fr

ABSTRACT
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the first symptom is night blindness, followed by the progressive loss in the peripheral visual field in daylight, and eventually leading to blindness after several decades. Some extreme cases may have a rapid evolution over two decades or a slow progression that never leads to blindness. In some cases, the clinical presentation is a cone-rod dystrophy, in which the decrease in visual acuity predominates over the visual field loss. RP is usually non syndromic but there are also many syndromic forms, the most frequent being Usher syndrome. To date, 45 causative genes/loci have been identified in non syndromic RP (for the autosomal dominant, autosomal recessive, X-linked, and digenic forms). Clinical diagnosis is based on the presence of night blindness and peripheral visual field defects, lesions in the fundus, hypovolted electroretinogram traces, and progressive worsening of these signs. Molecular diagnosis can be made for some genes, but is not usually performed due to the tremendous genetic heterogeneity of the disease. Genetic counseling is always advised. Currently, there is no therapy that stops the evolution of the disease or restores the vision, so the visual prognosis is poor. The therapeutic approach is restricted to slowing down the degenerative process by sunlight protection and vitaminotherapy, treating the complications (cataract and macular edema), and helping patients to cope with the social and psychological impact of blindness. However, new therapeutic strategies are emerging from intensive research (gene therapy, neuroprotection, retinal prosthesis).

Show MeSH
Related in: MedlinePlus