Naoaki Kawagoe

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.

Identifying Pathogenic Genetic Background of Simplex or Multiplex Retinitis Pigmentosa Patients: A Large-Scale Mutation Screening Study

Background and purpose: More than half of the retinitis pigmentosa (RP) cases are genetically simplex or multiplex. To date, 37 causative genes of RP have been identified; however, the elucidation of gene defects in simplex or multiplex RP patients/families remains problematic. The aim of our study was to identify the genetic causes of RP in patients with unknown or non-Mendelian inheritance. Methods and results: Since 2003, 52 simplex RP patients, 151 patients from 141 multiplex RP families, and six sporadic patients with retinal degeneration were studied. A total of 108 exons of 30 RP-causing genes that harboured the reported mutations were screened by an efficient denaturing high performance liquid chromatography (dHPLC) based assay. Aberrant fragments were subsequently analysed by automatic sequencing. Twenty-six mutations, including two frameshift mutations, one single amino acid deletion, and 23 missense mutations, were identified in 28 probands (14.07%). Eighteen mutations have not been reported to date. Three pairs of combined mutations in different genes were identified in two sporadic cases and one multiplex family, indicating the possibility of novel digenic patterns. Of the 23 missense mutations, 21 were predicted as deleterious mutations by computational methods using PolyPhen, SIFT, PANTHER, and PMut programs. Conclusion: We elucidated the mutation spectrum in Japanese RP patients and demonstrated the validity of the mutation detection system using dHPLC sequencing for genetic diagnosis in RP patients independent of familial incidence, which may provide a model strategy for identifying genetic causes in other diseases linked to a wide range of genes.

Scleral buckling with a noncontact wide-angle viewing system in the management of retinal detachment with undetected retinal break: a case report.

A young patient who showed rhegmatogenous retinal detachment with preoperatively undetected retinal break was successfully treated by scleral buckling using a noncontact wide-angle viewing system.