Novel phenotype in unbalanced 7;9 translocation with critical incidental finding

نویسندگان

چکیده

Lens coloboma is a developmental defect resulting from abnormalities of the zonules and ciliary body. It may present as an isolated pathology or be accompanied by anomalies in different ocular structures. We report case 20-year-old man referred for evaluation anisometropic amblyopia right eye. Manifest refraction was −2.25 +3.00 ×35 eye; corrected distance visual acuity, 20/50. Corneal topography revealed regular astigmatism +2.46 D at 124°, wavefront aberrometry irregular internal +6.27 35°. Only after full pupillary dilation peripheral lens observed. This demonstrates that even minor distortions clear normally positioned lenses lead to raises possibility corneal changes occur developmentally through process emmetropization partly compensate lenticular arising coloboma.

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ژورنال

عنوان ژورنال: Molecular Genetics and Metabolism

سال: 2021

ISSN: ['1096-7192', '1096-7206']

DOI: https://doi.org/10.1016/s1096-7192(21)00210-9