ABSTRACT
· AIM: To evaluate genetic characteristics of congenital color vision deficiency of our medical student and her family subjects for establishing the mode of inheritance.· METHODS: Ishihara Pseudo-isochromatic Plate Test (IPPT)was used for determining the color vision deficiency and Farnsworth 100 Hue test (F100HT) was done for evaluating the type of color vision deficiency. Family pedigree was established for the color blindness, ophthalmologic examinations and genetic studies were done. Genetic counseling was given to her family.· RESULTS: Ocular examination revealed best correction bilateral visual acuity of 20/20 in both eyes, with myopic correction (-2.0D). Slit-lamp examination and intraocular pressure measurement were within normal limits and funduscopy revealed normal optic nerve, macula and retinal periphery. All other external ocular assessment and neurological examinations were normal. Proband's sisters and her parents' ophthalmic examinations were also normal. The error scores of three sisters and their father were found 19-20/25 in IPPT. The results were consistent as deutran of red-green color blindness. The chromosome analyses and ovarian cycles were both normal.· CONCLUSION: According to her family pedigree, her color blindness was due to X-linked recessive penetrance mode of inheritance.