Fig. 1: Novel families with pathogenic KDM2B variants and structural eye anomalies. | European Journal of Human Genetics

Fig. 1: Novel families with pathogenic KDM2B variants and structural eye anomalies.

From: Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies

Fig. 1: Novel families with pathogenic KDM2B variants and structural eye anomalies.

A Pedigree of Family 1. The proband (II.1) carries the KDM2B variant c.1841G>C;p.(Arg614Pro), absent in the mother (I.2). Paternal DNA was not available (NA). B Ocular images of Proband II.1 (Family 1). Right eye (OD) shows an increased cup to disc ratio (0.80); left eye (OS) shows an increased cup to disc ratio (0.65) and coloboma inferior to the optic nerve (arrow). C Pedigree of Family 2. The proband (II.4) carries the de novo KDM2B variant c.1880G>C;p.(Cys627Ser). Her older sister is unaffected. Triangles indicate miscarriages (wk weeks of gestation). D Photographs of Proband II.4 (Family 2). Left panel: image of the proband as a baby showing bitemporal narrowing, straight eyebrows, underdeveloped left socket (left vestigial eye remnant), right microphthalmia, smooth philtrum, thin upper lip and fleshy lower lip. Right panel: images of the proband’s eyes at 18 years of age. Right eye (OD): mild microphthalmia with disorganised anterior segment; left eye (OS): anophthalmia.

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