Macular abnormalitie and optic dik anomaly aociated with a new PAX2 miene mutation

Purpoe To report a family with macular abnormalitie accompanied by anomalie of the optic dik and kidney aociated with a new PAX2 miene mutation. Deign Obervational cae report. Method A 34-year-old female preented with horizontal nytagmu, poor viual acuity, and chronic renal failure. he had bilateral colobomatou dik anomaly and foveal hypoplaia. Her mother alo had renal dyfunction and bilaterally impaired viion. Beide the optic dik dyplaia, the fovea wa hypoplatic in the right eye, wherea pigmented macular atrophy wa oberved in the left eye. The entire coding region of PAX2 and PAX6 were creened for mutation. Reult A heterozygou mutation G755C in exon 2 of PAX2 that reult in a miene mutation, R71T, wa identified in the proband and her mother. No mutation were detected in PAX6. Concluion A new PAX2 miene mutation, R71T, may caue macular abnormalitie in addition to anomalie of the optic dik and the kidney.