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  • Book
    Gemmy Cheung, editor.
    Summary: This volume of the retina atlas focuses on hereditary chorioretinal disorders. The topics covered include retinitis pigmentosa, Best disease, congenital X-linked retinoschisis, cone dystrophy, Stargardt's disease, pattern dystrophy, North Carolina macular dystrophy, choroideremia, Mallattia Leventinese, Bietti's crystalline dystrophy, and albinism. All clinical features are clearly illustrated with multimodal imaging techniques. The utility of some of the latest imaging tools such as OCT angiography, adaptive optics-scanning laser ophthalmoscopy, and microperimetery is discussed. Readers will gain valuable new insights into pathogenesis at the molecular level, which have been facilitated by recent genetic discoveries. The use of genetic testing and the latest advances in and challenges of gene therapy and cell-based therapy are also covered in detail. Hereditary Chorioretinal Disorders atlas is one of nine volumes in the series Retina Atlas. The series provides validated and comprehensive information on vitreoretinal diseases, covering imaging basics, retinal vascular diseases, macular disorders, ocular inflammatory and infectious disorders, retinal degeneration, the surgical retina, ocular oncology, pediatric retina and trauma.

    Contents:
    Retinits pigmentosa and allied disorders
    Best's disease
    Congenital X-linked retinoschisis
    Progressive cone dystrophy and cone-rod dystrophy
    Pattern dystrophy of the retinal pigment epithelium
    Stargardt's disease and fundus flavimaculatus
    North Carolina macular dystrophy
    Choroideremia
    Malattia Leventinese or Doyne honeycomb retinal dystrophy
    Bietti's crystalline dystrophy
    Albinism.
    Digital Access Springer 2020
  • Article
    Schmidt P, Kerjaschki D, Syré G, Pils P, Kopsa H, Zazgornik J, Balcke P, Stemberger H.
    Schweiz Med Wochenschr. 1978 May 27;108(21):781-8.
    A case of dense intramembranous deposit disease, partial lipodystrophy, hypocomplementemia, and nephritic factor-like activity in the serum is presented. Recurrence of underlying renal disease was noted in two consecutive renal allografts. The first transplant was lost 7 months after implantation, chronic renal rejection being an additional cause of graft failure. A favourable clinical course, however, was observed after the second renal transplantation. 22 months after surgery, the patient was fully rehabilitated and transplant function only slightly reduced despite electron microscopic evidence of typical dense intramembranous deposit lesions. Low C3-serum complement and normal C4-serum complement levels were constant findings throughout observation time. The case supports the assumption that patients with dense intramembranous deposit disease should not be excluded from renal transplantation As shown in the literature, maintenance of satisfactory graft function is usually obtained for a long period of time despite recurrence of original disease.
    Digital Access Access Options