Avtor/Urednik		Jarc-Vidmar, Martina; Šlajpah, Maja; Popović, Petra; Glavač, Damjan; Hawlina, Marko
Naslov		Mapping of central visual function in Best's vitelliform dystrophy
Prevedeni naslov		Ocena delovanja centralne mrežnice pri Bestovi viteliformni distrofiji
Tip		članek
Vir		In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Leto izdaje		2005
Obseg		str. 231-9
Jezik		eng
Abstrakt		Best vitelliform dystrophy is the second most common inherited macular dystrophy, which usually starts at an early age and progressively affects the patient's central vision. In this clinically heterogenous and pleomorphic disease, ophthalmoscopic lesions often do not correspond with a deterioration of the visual function. The aim of our study was to investigate the presence of UMD2 mutation in our patients with Best's dystrophy and to evaluate retinal sensitivity and fixation patterns with retinal morphology. Blood samples of 11 patients trom five families with different stages of BVD were taken for genetic analysis. The central 10° visual fields were tested with static perimetry (Octopus M2 TOP) and microperimetry (MP1, Nidek Technologies). The results of MP testing were compared with retinal morphology seen by autofluorescence (AF). In the initial stages. localised areas of hyperfluorescence centrally in the fovea, later became non-homogenous, finally being replaced by central hypofluorescent areas surrounded by hypertluorescent rings. Patients were divided into three groups. In the first two groups (VA: 0.8+-0.1 and 0.5+-0.3), patients fixated centrally adjacent to the relative (Group 1) or absolute (Group 2) scotoma inside a non-uniform hypo-and hyperfluorescent area. With disease progression, an evident shift of fixation to the preferential retinal locus (PRL) appeared in 8 eyes with a visual acuity of 0.2 or less (Group 3), PRL was never inside the central uniform hypofluorescent area but corresponded to the hyperfluorescent ring. A high correlation was found between MP and static perimetry (MS,MD and CLV indices): r= 0.75,-0.76 and-0.48. MP appears to be superior to static perimetry, with an important ability of fundus controlled fixation screening. A new G15R mutation was found in exon 2 of the VMD2 gene in the family M. Our results show a good correlation between morphology and visual function. (Abstract truncated at 2000 characters)
Deskriptorji		MACULAR DEGENERATION PERIMETRY PEDIGREE FLUORESCEIN ANGIOGRAPHY