Vannas A, Setälä K, Järvinen E
Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1980;213(1):11-7. doi: 10.1007/BF02391206.
A family with autosomal dominant cornea guttata in three generations is described. The investigated pedigree consisting of 25 healthy patients and 6 patients with cornea guttata. A few guttata were already present at an early age and very pronounced corneal endothelial guttata appeared in the middle-aged patients. No other ocular pathology was associated with this condition and the endothelial cell counts were not affected by guttata excrescences. The corneal thickness was normal in the affected and non-affected members of the family while bullous keratopathy did not seem to be associated with dominant cornea guttata in this family.
本文描述了一个三代人患常染色体显性遗传性角膜滴状变性的家族。该研究谱系由25名健康患者和6名角膜滴状变性患者组成。少数滴状病变在早年就已出现,中年患者出现了非常明显的角膜内皮滴状病变。该病症未伴有其他眼部病变,内皮细胞计数也未受滴状赘生物影响。该家族中患病和未患病成员的角膜厚度均正常,在这个家族中,大疱性角膜病变似乎与显性遗传性角膜滴状变性无关。