Padma T, Murty J S
Acta Anthropogenet. 1983;7(1):1-12.
In this study ocular conditions like cataract, corneal dystrophy, retinal detachment, primary glaucoma, myopia and strabismus have been examined for certain genetic markers to estimate the relative risks involved. The incidence of nontasters for PTC was significantly high in cases with congenital cataract, aphakic retinal detachment and convergent and divergent squint as compared to controls. Among nontasters, the frequency of total taste blindness was strikingly high in the disease group as compared to controls. Blood group A individuals showed significantly high risk for zonular cataract, corneal dystrophy and convergent squint; group B individuals for zonular cataract and group O individuals for nuclear cataract, myopia and convergent squint. There was a high preponderance of non-secretors in zonular cataract and primary glaucoma cases when compared to controls. The incidence of HbS (one case with primary glaucoma and the other with granular corneal dystrophy) and HbD (one case with senile cataract) were considered as chance occurrences. A strong association was found between Hp 2-2 and retinal detachments specially those with vitreous degenerations. In general, when compared to controls, the frequency of Hp 2-2 was relatively low in nuclear, zonular, cortical and senile cataracts, while it was high in rest of the diseases.
在本研究中，已对白内障、角膜营养不良、视网膜脱离、原发性青光眼、近视和斜视等眼部疾病进行了某些基因标记物的检测，以评估其中涉及的相对风险。与对照组相比，先天性白内障、无晶状体性视网膜脱离以及共同性斜视和非共同性斜视患者中，苯硫脲（PTC）味盲者的发生率显著较高。在味盲者中，与对照组相比，疾病组中完全味觉缺失的频率极高。A型血个体患板层白内障、角膜营养不良和共同性斜视的风险显著较高；B型血个体患板层白内障；O型血个体患核性白内障、近视和共同性斜视。与对照组相比，板层白内障和原发性青光眼患者中非分泌型的比例很高。血红蛋白S（HbS，1例原发性青光眼和1例颗粒状角膜营养不良）和血红蛋白D（HbD，1例老年性白内障）的发生被视为偶然情况。发现触珠蛋白2-2（Hp 2-2）与视网膜脱离，特别是伴有玻璃体变性的视网膜脱离之间存在密切关联。总体而言，与对照组相比，核性、板层、皮质性和老年性白内障中Hp 2-2的频率相对较低，而在其他疾病中则较高。
