Purpose: To report a family with macular abnormalities accompanied by anomalies of the optic disk and kidney associated with a new PAX2 missense mutation.
Design: Observational case report.
Methods: A 34-year-old female presented with horizontal nystagmus, poor visual acuity, and chronic renal failure. She had bilateral colobomatous disk anomaly and foveal hypoplasia. Her mother also had renal dysfunction and bilaterally impaired vision. Besides the optic disk dysplasia, the fovea was hypoplastic in the right eye, whereas pigmented macular atrophy was observed in the left eye. The entire coding regions of PAX2 and PAX6 were screened for mutations.
Results: A heterozygous mutation G755C in exon 2 of PAX2 that results in a missense mutation, R71T, was identified in the proband and her mother. No mutations were detected in PAX6.
Conclusions: A new PAX2 missense mutation, R71T, may cause macular abnormalities in addition to anomalies of the optic disk and the kidney.