Open AccessOcular Manifestations of Donnai Barrow Syndrome
Author(s) -
Ayoub Redouan,
Hind Hamdani,
Soukaina Amrani,
Loubna El Maaloum,
B. Allali,
Asmae El Kettani
Publication year - 2020
Publication title -
european journal of medical and health sciences
Language(s) - English
Resource type - Journals
ISSN - 2593-8339
DOI - 10.24018/ejmed.2020.2.6.605
Subject(s) - medicine , pediatrics , disease , multidisciplinary team , ophthalmology , dermatology , pathology , nursing
Donnai-Barrow syndrome is an autosomal recessive disease due to mutations in the LRP2 gene described by Donnai and Barrow in 1993. We report through this clinical case the various ophthalmologic and extraocular manifestations of Donnai Barrow syndrome which remains a very rare congenital malformation. High myopia is a risk factor for severe amblyopia and/or retinal detachment which requires a regular monitoring.
The management of this disabling disease is multidisciplinary, involving the ophthalmologist, the otorhinolaryngologist, the pediatrician and the psychiatrist.