Association between abnormal autofluorescence and photoreceptor disorganization in retinitis pigmentosa.

PURPOSE To evaluate the association between the third high-reflectance band on high-resolution optical coherence tomography (OCT), fundus autofluorescence (AF), and kinetic perimetry results in patients with typical retinitis pigmentosa (RP). DESIGN Retrospective, observational case series. METHODS Thirty-four patients with typical RP who were referred to our institute were examined, with a diagnosis made by full-field electroretinography. We evaluated the fundus AF and the third high-reflectance band by high-resolution OCT, both qualitatively and quantitatively. We investigated whether the vertical length of the AF diameter or the third high-reflectance band correlated with Goldmann kinetic perimetry results. RESULTS We classified three types of abnormal fundus AF: ring AF, central AF, and the absence of both patterns. In eyes with ring AF, the length of the third high-reflectance band was almost equal to the diameter of the abnormal ring AF with significant correlation (P < .001), whereas the band length did not correlate with the diameter of the visual field (P = .237). Eyes with central AF did not have a continuous third high-reflectance band. In eyes with neither ring nor central AF, the length of the third high-reflectance band correlated with the AF length and the diameter of the visual field (P = .024 and P < .001, respectively). CONCLUSIONS A novel classification based on the fundus AF and the third high-reflectance band determined by OCT suggests different patterns of pathogenesis in the retinal pigment epithelium and photoreceptor degeneration in the progression of RP.

[1]  J. Cunha-Vaz,et al.  Breakdown of the blood-retinal barriers and cystoid macular edema. , 1984, Survey of ophthalmology.

[2]  David W. Yandell,et al.  A point mutation of the rhodopsin gene in one form of retinitis pigmentosa , 1990, Nature.

[3]  J E Turner,et al.  Inherited retinal dystrophy in the RCS rat: prevention of photoreceptor degeneration by pigment epithelial cell transplantation. , 1988, Experimental eye research.

[4]  M. Sandberg,et al.  Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosa , 1993, Nature Genetics.

[5]  Peter K Kaiser,et al.  Optical coherence tomography 3: Automatic delineation of the outer neural retinal boundary and its influence on retinal thickness measurements. , 2004, Investigative ophthalmology & visual science.

[6]  A. Bird,et al.  Distribution of pigment epithelium autofluorescence in retinal disease state recorded in vivo and its change over time , 1999, Graefe's Archive for Clinical and Experimental Ophthalmology.

[7]  B. Kirchhof,et al.  Iris pigment epithelial cell translocation in exudative age-related macular degeneration , 2000, Graefe's Archive for Clinical and Experimental Ophthalmology.

[8]  F W Fitzke,et al.  Distribution of fundus autofluorescence with a scanning laser ophthalmoscope. , 1995, The British journal of ophthalmology.

[9]  K Heimann,et al.  Iris pigment epithelial cells of long evans rats demonstrate phagocytic activity. , 1997, Experimental eye research.

[10]  T. Aleman,et al.  Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[11]  M. Hawlina,et al.  Abnormal fundus autofluorescence in relation to retinal function in patients with retinitis pigmentosa , 2005, Graefe's Archive for Clinical and Experimental Ophthalmology.

[12]  G. Chader,et al.  Retinitis pigmentosa: immunohistochemical and biochemical studies of the retina. , 1986, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

[13]  K. Mizuseki,et al.  Generation of Rx+/Pax6+ neural retinal precursors from embryonic stem cells. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[14]  D. Farber,et al.  From mice to men: the cyclic GMP phosphodiesterase gene in vision and disease. The Proctor Lecture. , 1995, Investigative ophthalmology & visual science.

[15]  Ian J Constable,et al.  Lipofuscin of the retinal pigment epithelium: A review , 1995, Eye.

[16]  M. Sandberg,et al.  The association between visual acuity and central retinal thickness in retinitis pigmentosa. , 2005, Investigative ophthalmology & visual science.

[17]  J. Nathans,et al.  Rhodopsin: structure, function, and genetics. , 1992, Biochemistry.

[18]  B. Lorenz,et al.  Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. , 2004, Ophthalmology.

[19]  M. Tamai,et al.  [Molecular genetic analysis for Japanese patients with autosomal dominant retinitis pigmentosa]. , 2003, Nippon Ganka Gakkai zasshi.

[20]  M. Jay,et al.  Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe. , 1990, American journal of human genetics.

[21]  F. Rolling,et al.  Adeno-associated viral vectors for retinal gene transfer and treatment of retinal diseases. , 2005, Current gene therapy.

[22]  M. Tamai [Progress in pathogenesis and therapeutic research in retinitis pigmentosa and age-related macular degeneration]. , 2004, Nippon Ganka Gakkai zasshi.

[23]  Richard F Spaide,et al.  OPTICAL COHERENCE TOMOGRAPHY IN UNILATERAL RESOLVED CENTRAL SEROUS CHORIORETINOPATHY , 2005, Retina.

[24]  A. Bird,et al.  Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity. , 2003, Investigative ophthalmology & visual science.

[25]  D. Reitze,et al.  Noninvasive imaging by optical coherence tomography to monitor retinal degeneration in the mouse. , 2001, Investigative ophthalmology & visual science.

[26]  H. Kolb,et al.  Electron microscopic observations of human retinitis pigmentosa, dominantly inherited. , 1974, Investigative ophthalmology.

[27]  A. Bird,et al.  Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity , 2006, British Journal of Ophthalmology.

[28]  Y. Sasai,et al.  In vitro and in vivo characterization of pigment epithelial cells differentiated from primate embryonic stem cells. , 2004, Investigative ophthalmology & visual science.

[29]  E. Berson,et al.  Retinal ultrastructure in advanced retinitis pigmentosa. , 1977, Investigative ophthalmology & visual science.