ISSN: 1300-0292
İndekslendiği Dizinler: SCIENCE CITATION INDEX EXPANDED
CINAHL, Index Copernicus,
Chemical Abstracts (CA),
Excerpta Medica / EMBASE
Dil: Türkçe, İngilizce
İçerik: Orijinal Araştırma, Derleme, Editöre Mektup, Olgu Sunumu, Tıp Eğitimi, Tıbbi Kitap İncelemeleri
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A Case Report Of A Color Blind Male With Severe Myopia And Macular Degeneration
Nimet Ünay GÜNDOĞAN*, Ayşe Gül ALTINTAŞ**, Nezih DURMAZLAR***, Koray GÜMÜŞ****,
İnci MİDİLLİOĞLU****, Irmak DURUR******, Kemal KÖSEMEHMETOĞLU*******, Sevim BALCI********
* Prof. Dr., Hacettepe Üniversitesi Tıp Fakültesi FizyolojiAD,
** Doç.Dr.,Trafik Eğitim ve Araştırma Hastanesi Göz Hastalıkları Kliniği, Şef Yard.,
*** Arş.Gör.Dr., Hacettepe Üniversitesi Tıp Fakültesi Fizyoloji AD,
**** Arş.Gör. Dr., Hacettepe Üniversitesi Tıp Fakültesi Göz AD,
***** Uz.Dr., Ankara Eğitim ve Araştırma Hastanesi Göz Kliniği,
****** Arş.Gör.Dr. Atatürk Üniversitesi Tıp Fakültesi Radyoloji AD,
******* St.Dr., Hacettepe Üniversitesi Tıp Fakültesi,
******** Prof.Dr., Hacettepe Üniversitesi Tıp Fakültesi İhsan Doğramacı Çocuk Hastanesi Klinik Genetik Bölümü, ANKARA
Objective: To evaluate genetic characteristics and clinical findings in a case with high myopia, macular degeneration and color blindness.Material and Methods: Classic and computer adapted Ishihara Color Plates were used for determining the red – green color blindness in a 21 year old man subject. Furthermore, color sensitivity was investigated in more detail with Fransworth-Munsell 100 Hue Test. The family pedigree for the color blindness and other ocular pathology was obtained and the ophthalmologic examination was done.Results: In ophthalmologic examination, the best corrected visual acuity was (-18.0 -3.0 40°) 0.3; right eye and (-14.0 -2.0 140°) 0.6. in left eye. In fundus examination, there was generalized chorioretinal atrophy, especially surrounding the macula. The error score on the classic Ishihara test was 19/21, and on the computer adapted method was 21/24. The left and right eye were tested separately with Farnsworth-Munsell 100 Hue Test. The error scores were consistent with red-green color blindness.Conclusion: According to his pedigree, his color blindness was due to X-linked recessive penetrance. Presence of severe myopia, macular degeneration and colorblindness in same case may only be coincidental but genetic linkage is also possible. Therefore severe myopia cases should be screened with color vision test whether or not myopia is genetically related with color blindness in large series. Genetic counseling was given to him which was especially important for them.Keywords: Color Vision Defects, Myopia, Macular degenerationTurkiye Klinikleri J Med Sci 2003, 23:43-48
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