[A family of renal coloboma syndrome]

The proband was a 5-year-old boy with binocular esotropia since childhood. Ocular examination showed the binocular optic cup was wide and deep excavated with radial emergence of the retinal vessels and retinal detachment was seen in the left eye. The father of the proband with worse vision of the right eye from a child and received a kidney transplant 10 years ago. Ocular examination showed large optic nerves with large optic cups of the right eye accompanied by retinal detachment in macular area. The left eye showed normal size of the optic disc and etinoschisis. Both nerves had anomalous vascular patterns. The sister of the proband showed binocular wide and deep optic cups, and the vascular course was normal. Renal color Doppler ultrasound and urine routine examination showed that the proband and his sister had bilateral renal calcification, pyelic separation and mild proteinuria. The results of gene detection showed heterozygous mutation (c.419_421delGGA) of the PAX2 gene in this family. Combined with the above examination results, the diagnosis was renal coloboma syndrome. (Chin J Ophthalmol, 2021, 57: 454-457).