Article
Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.
The American journal of case reports - 28 Apr 2018
Musalem Hebah M, Dirar Qais S, Al-Hazzaa Selwa A F, Al Zoba Abdul-Aziz A, El-Mansoury Jeylan
Abstract excerpt
BACKGROUND Aicardi-Goutières syndrome (AGS) is a rare autosomal recessive encephalopathy of early onset. AGS visual dysfunction range from nystagmus and optic atrophy to cortical blindness in affected individuals; however, congenital glaucoma has been recently noticed among AGS pediatric patients. According to the literature, aniridia has never been recognized among AGS patients. CASE REPORT We report the case of...
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