[Molecular genetic basis of age-related macular degeneration].

Visual loss due to age-related macular degeneration (AMD) is caused by one or both forms of advanced disease: "wet" (neovascular) or "dry" (geographic atrophy). Immune system plays a central role in pathogenesis and progression of both AMD forms. Main genetic polymorphisms associated with risk of AMD development and progression were found to be genes that regulate inflammation especially in complement factor H gen (1q31 locus) and 10q26 locus (PLEKHAI/ARMS2/HTRA1). Association of response to treatment and genotype was shown in patients with AMD. Complete characterization of both common and rare alleles that influence AMD risk is necessary for accurate determination of individual genetic risk as well as identification of new targets for therapeutic intervention.

[Bilateral central retinal vein occlusion associated with moderate acute rejection of a cardiac graft]. / Oblitération bilatérale de la veine centrale de la rétine sur un rejet aigu léger de greffe cardiaque.

We report a case of bilateral central retinal vein occlusion following moderate acute rejection of a cardiac transplant. A 27-year-old man was admitted for sudden bilateral decreased vision due to bilateral central retinal vein occlusion. Visual acuity was 20/63 in the right eye and 20/25 in the left eye. This patient had undergone a heart transplant 6 months before and had presented with moderate acute rejection for a few days. The moderate acute rejection phenomenon includes inflammatory lymphocyte infiltrates, reflecting persistent immune response activation. Moderate acute rejection of a cardiac transplant graft might cause a bilateral central retinal vein occlusion.

The HNK-1 epitope in the inner connective tissue layer of the human ciliary body in exfoliation syndrome and various types of glaucoma.

Possible changes in the expression of the HNK-1 carbohydrate epitope in the inner connective tissue layer of the human ciliary body, located between the ciliary epithelium and muscle, was studied using 2 formalin-fixed, paraffin-embedded eyes with exfoliation syndrome, 33 eyes with different types of glaucoma, and 21 morphologically normal control eyes. A strong immunoreaction delineating cell process was observed in this layer with monoclonal antibodies HNK-1 and VC1.1 recognizing the HNK-1 epitope in control specimens, whereas partly granular immunoreaction was present in eyes with exfoliation syndrome. Exfoliation material was also immunoreactive. In all types of advanced glaucoma, the immunoreaction was mostly granular in nature and greatly diminished. No difference in HNK-1 immunoreactivity between control and glaucoma eyes was seen in the retina and ciliary epithelium. Elevated intraocular pressure, either directly or by decreasing blood flow to the ciliary body, may cause degenerative or metabolic changes in the inner connective tissue layer cells that bear or secrete molecules sharing the HNK-1 epitope. The partly granular immunoreactivity in eyes with exfoliation syndrome only indicates changes in this epitope even without an increase in intraocular pressure.