Bilateral Cataracts, Retinal Detachment and Vitreous Hemorrhage in a Newborn with Congenital Diaphragmatic Hernia

Abstract

Congenital diaphragmatic hernia (CDH) is associated with a wide range of other malformations. We describe a patient with CDH who also had significant eye findings noted at birth.

Congenital diaphragmatic hernia as a part of Nance–Horan syndrome?

“…In addition, the patient displayed retinal detachment, vitreous hemorrhage, and undescended right testis. Standard karyotyping was normal, but no mutation analysis or exome sequencing was performed [33]. This could be another case of Nance-Horan syndrome with rare ophthalmologic and extra-ocular malformations.…”

“…In addition, other ophthalmological features including microphtalmia, microcornea, and nystagmus [30] and non-ophthalmological finding including brachymetacarpia and variable congenital heart defects were reported in some families [31,32]. Although CDH has never been reported in association with NHS gene mutations, one report has described the association of a left CDH with congenital bilateral cataract in a male patient [33]. In addition, the patient displayed retinal detachment, vitreous hemorrhage, and undescended right testis.…”