Adult ; Azoospermia ; genetics ; Chromosomes, Human, Pair 13 ; genetics ; Chromosomes, Human, Pair 14 ; genetics ; Humans ; Hypogonadism ; genetics ; Male ; Translocation, Genetic

AIM: To evaluate genetic characteristics and clinical findings in a family with high myopia and colour vision deficiency (CVD).METHOD: Eight affected subjects of 42 members in four generations of the same family underwent a complete ophthalmic examination. Classical and computer adapted Ishihara Plates and Farnsworth-Munsell 100 Hue (FM100H)tests were used for determining the red-green CVD and full-field electroretinography (ERG) was performed to evaluate retinal function.RESULTS: Eight affected subjects had subnormal visual acuity due to high myopia. The results of colour vision tests were consistent with red-green CVD in six of these affected subjects. Fundus examination showed degenerative myopic changes characterized with generalized chorioretinal atrophy.Abnormal cone and rod dark-adaptation and diminished cone response in ERG were found in two subjects. According to family pedigree, it has been suggested that red-green CVD has X-linked recessive inheritance.CONCLUSION: The concurrence of high myopia with CVD in the members of this family may show a possible evidence for an associate genetic basis on different disorders.