Case series: Megalopapillae in twins – Congenital or hereditary?

To the best of the author’s knowledge, bilateral megalopapilla are entities with an unknown inheritance pattern, and this is the first case presentation of bilateral megalopapilla in twin siblings. One of the twins presented to the outpatient department with a frontal headache, while the other was asymptomatic. Upon examination of the first family members, the asymptomatic paternal grandfather had a similar presentation of megalopapilla. As a result, this report will help in determining the genetic pattern of development of this optic disc anomaly, as well as its crucial differential diagnosis.

Retinoschisis in Congenital Hypopituitarism with Short Stature: A New Clinic Entity?.

Herein we report a short stature man with unilateral retinoschisis associated with optic disc anomaly. The patient presented to our clinic after 5 years of gradually decreased vision in his right eye. He had flat retinoschisis with large round-shape break of the inner retinal layer in the right eye. There was also perifoveal retinoschisis. Fundus examination revealed peripapillary chorioretinal atrophy, tilted and hypoplastic optic disc, ‘frosted branch’ or ‘dragged’ appearance of temporal retinal vessels. SD-OCT revealed an unusual entity of retinoschisis likely connected to the optic disc anomaly. Our case does not show previously reported characteristics of the eye involvement with syndromic short stature, and may represent a new clinical entity.

Unilateral situs inversus of optic disc associated with reduced binocularity and stereoacuity resembling monofixation syndrome.

Situs inversus of the optic disc is a rare, usually bilateral, congenital embryological abnormality associated with high myopia, optic disc coloboma or tilted optic disc. It is characterized by emergence of the retinal vessels in an anomalous direction with dysversion of the optic disc. In this report we present a 13-year-old boy diagnosed with isolated, unilateral situs inversus of the optic disc associated with reduced binocularity and stereoacuity resembling a monofixation syndrome. The clinicians should be aware of this association and assess the binocularity in patients with unilateral optic disc or macular anomalies. Conversely, patients with reduced binocularity and stereoacuity should be carefully evaluated for macular or optic nerve anomalies, if not associated with strabismus, anisometropia and eccentric fixation. Typical fundus picture, optical coherence tomography and multifocal electro retinogram of the patient would be instructive to a clinician.