Literature DB >> 3257866

X-linked retinitis pigmentosa. Profile of clinical findings.

G A Fishman1, M D Farber, D J Derlacki.   

Abstract

An evaluation of 56 patients with X-linked retinitis pigmentosa revealed a profile of findings that include the following: night blindness within the first two decades of life; spherical refractive errors of -2.00 diopters or greater in addition to an increased prevalence of a cylindrical correction of +1.50 diopters or greater; appreciable impairment of central visual acuity to 20/200 or less by the fifth decade of life; characteristic patterns of field loss; presence of a foveal lesion in up to 75% of the study group; posterior subcapsular lens opacities; and nondetectable electroretinographic amplitudes in more than two thirds of the patients (using conventional full-field recording procedures). These observations are of general value in diagnosis of this disease and for counseling of patients afflicted with this severe form of hereditary night blindness.

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Year:  1988        PMID: 3257866     DOI: 10.1001/archopht.1988.01060130395029

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  45 in total

1.  Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.

Authors:  C J Flaxel; M Jay; D L Thiselton; M Nayudu; A J Hardcastle; A Wright; A C Bird
Journal:  Br J Ophthalmol       Date:  1999-10       Impact factor: 4.638

2.  Clinical and genetic heterogeneity in retinitis pigmentosa.

Authors:  J Kaplan; D Bonneau; J Frézal; A Munnich; J L Dufier
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

3.  Optical coherence tomography and electro-oculogram abnormalities in X-linked retinitis pigmentosa.

Authors:  Enzo Maria Vingolo; Maria Luisa Livani; D Domanico; Regina H F Mendonça; Eduardo Rispoli
Journal:  Doc Ophthalmol       Date:  2006-09-06       Impact factor: 2.379

4.  Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.

Authors:  Kollu N Rao; Linjing Li; Wei Zhang; Richard S Brush; Raju V S Rajala; Hemant Khanna
Journal:  Hum Mol Genet       Date:  2016-01-24       Impact factor: 6.150

5.  Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

Authors:  R A Lewis
Journal:  Trans Am Ophthalmol Soc       Date:  1989

6.  Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.

Authors:  Sirichai Pasadhika; Gerald A Fishman; Edwin M Stone; Martin Lindeman; Ruth Zelkha; Irma Lopez; Robert K Koenekoop; Mahnaz Shahidi
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-12-03       Impact factor: 4.799

7.  Hereditary and clinical features of retinitis pigmentosa in Koreans.

Authors:  Sun Ho Lee; Hyeong Gon Yu; Jong Mo Seo; Sang Woong Moon; Jun Woong Moon; Sang Jin Kim; Hum Chung
Journal:  J Korean Med Sci       Date:  2010-05-24       Impact factor: 2.153

8.  Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.

Authors:  Carlos A Murga-Zamalloa; Stephen J Atkins; Johan Peranen; Anand Swaroop; Hemant Khanna
Journal:  Hum Mol Genet       Date:  2010-07-14       Impact factor: 6.150

9.  Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas.

Authors:  Carlos A Murga-Zamalloa; Nimit J Desai; Friedhelm Hildebrandt; Hemant Khanna
Journal:  Mol Vis       Date:  2010-07-17       Impact factor: 2.367

10.  Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3.

Authors:  Richard Guyon; Susan E Pearce-Kelling; Caroline J Zeiss; Gregory M Acland; Gustavo D Aguirre
Journal:  Mol Vis       Date:  2007-07-11       Impact factor: 2.367

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