Autosomal Recessive Retinitis Pigmentosa – AR RP
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Affected individuals first experience night blindness, followed by reduction of the peripheral visual field and, sometimes, loss of central vision late in the course of the disease which eventually leads to blindness after several decades. Signs and symptoms often first appear in childhood, but severe visual problems do not usually develop until early adulthood. In some cases, RP is characterized by cone-rod dystrophy, in which the decrease in visual acuity predominates over loss of the visual field. RP is usually non-syndromic but there are also many syndromic forms. The main risk factor is a family history of retinitis pigmentosa.
The Autosomal Recessive Retinitis Pigmentosa (AR-RP) test is the most comprehensive genetic test available for screening mutations in a number of genes associated with the disease: CERKL, CNGA1, CNGB1, MERTK, PDE6A, PDE6B, PNR, RDH12, RGR, RLBP1, SAG, TULP1, CRB, RPE65, USH2A, USH3A, LRAT, PROML1 and PBP3. The number of mutations tested in the AR-RP test is 594. In addition to test multiple genes simultaneosly on a microarray we are also offering sequence analysis of the entire coding region of the RPE65 gene.
Genetic testing for Autosomal Recessive Retinitis Pigmentosa is preferred in patients/families with nonsyndromic retinitis pigmentosa and without a family history of retinitis pigmentosa. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
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Autosomal Recessive Retinitis Pigmentosa – read more.
For further information:
Discordance for retinitis pigmentosa in two monozygotic twin pairs
Berghmans LV, de Mendonça RH, Coppieters F, de Oliveira Maia Júnior O, Takahashi WY, Lissens W, de Baere E, Leroy BP.
Retina. 2011 Jan 28.
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa
Clark GR, Crowe P, Muszynska D, O’Prey D, O’Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.
Ophthalmology. 2010 Nov;117(11):2169-77.
A novel mutation and phenotypes in phosphodiesterase 6 deficiency
Tsang SH, Tsui I, Chou CL, Zernant J, Haamer E, Iranmanesh R, Tosi J, Allikmets R.
Am J Ophthalmol 2008 Nov; 146(5): 780-8. Epub 2008 Aug 23.
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1
Köhn L, Burstedt MS, Jonsson F, Kadzhaev K, Haamer E, Sandgren O, Golovleva I.
Invest Ophthalmol Vis Sci. 2008 Jul; 49(7): 3172-7. Epub 2008 Mar 14.
Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions
Koenekoop RK, Lopez I, den Hollander AI, Allikmets R, Cremers FP.
Clin Experiment Ophthalmol. 2007 Jul;35(5):473-85.
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