Pervasive ocular anomalies in posterior microphthalmos

Posterior microphthalmos is a relatively rare condition that has been reported to coexist with several other ophthalmic conditions. However, to the best of the authors’ knowledge, there are no previous reports that have found posterior microphthalmos and refractive, binocular, retinal, and neurologic considerations, along with a possible hereditary component. The following report documents the coexistence of posterior microphthalmos with severe hyperopia, esotropia, macular folds, and optic nerve hypoplasia in a pair of siblings. A 9-year-old Hispanic girl presented for a comprehensive eye examination. Best-corrected visual acuity (VA) was reduced in both eyes with poorer VA in the right eye. Binocular testing found a small angle constant right esotropia (ET). On dilated fundus examination, a peculiar, elevated, dolphin-shaped folding of the macula was identified, the right eye greater than the left eye, that extended toward an anomalous optic nerve head in both eyes (OU), presumed to be a disc hypoplasia. The patient’s brother, who also exhibited severe hyperopia and ET, presented with a similar acuity reduction, a nearly identical folded macular appearance, the right eye more so than the left eye, and a probable optic nerve hypoplasia. Pachymetry, ultrasonography, and ocular coherence tomography imaging of both siblings found thickened corneas in the presence of posterior microphthalmos OU and macular folds affecting only the retina, leaving the choroid and sclera unaffected. Posterior microphthalmos may exist in the presence of ocular anomalies along with refractive, binocular, retinal, neurologic, and genetic considerations. In this case, optical coherence tomography provided information on the internal morphology of the macular folds, which helped direct the differential diagnosis. The similar presentation among siblings supports a hereditary component that warrants further investigation.