Autoantibodies against bestrophin in a patient with vitelliform paraneoplastic retinopathy and a metastatic choroidal malignant melanoma.

8q22. The investigators attributed the responsible area of glaucoma to 8q22, not 9p23, because GLC1D maps to 8q22. That case also showed retained testis and hydronephrosis, similar to our patient. Interestingly, 2 previously reported cases of monosomy 9p24-pter (near the 9p23 locus) manifested developmental glaucoma. Therefore, partial monosomy 9p might be causative for developmental glaucoma. Chromosome 13 seems essential for development of the eye. Trisomy 13 often results in severe ocular defects, including developmental glaucoma. One case of developmental glaucoma and polydactyly with trisomy 13 was reported, which is compatible with our case. In a French family with congenital microcoria, axial myopia, and juvenile open-angle glaucoma, genetic linkage to 13q31-32 was suggested to result in these ocular findings. Although our patient had a normal pupil phenotype, trisomy 13q31 might be responsible for the developmental anomaly of angle. Taken together, it is suggested that the abnormalities of chromosome 9p23 and/or 13q31 are associated with developmental glaucoma with other systemic anomalies.