Achondroplasia With Congenital Onset Glaucoma, and Presumed Axenfeld-Rieger Anomaly

Samantha Nastasi; Andres Gonzalez; Charles Richard Blake; Allen Beck; Swati Agarwal-Sinha

doi:10.1097/IJG.0000000000001046

Achondroplasia With Congenital Onset Glaucoma, and Presumed Axenfeld-Rieger Anomaly

J Glaucoma. 2018 Oct;27(10):e165-e167. doi: 10.1097/IJG.0000000000001046.

Authors

Samantha Nastasi¹, Andres Gonzalez¹, Charles Richard Blake¹, Allen Beck², Swati Agarwal-Sinha¹

Affiliations

¹ Department of Ophthalmology, University of Florida, Gainesville, FL.
² Department of Ophthalmology, Emory University, Atlanta, GA.

PMID: 30095606
DOI: 10.1097/IJG.0000000000001046

Abstract

We report the first case to our knowledge of a 1-week-old female infant with familial inherited achondroplasia associated with bilateral congenital onset glaucoma, posterior embryotoxon and iris hypoplasia suggestive of ocular Axenfeld-Rieger anomaly.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics
Achondroplasia / diagnosis*
Achondroplasia / genetics
Anterior Eye Segment / abnormalities*
Eye Abnormalities / diagnosis*
Eye Abnormalities / genetics
Eye Diseases, Hereditary / diagnosis*
Eye Diseases, Hereditary / genetics
Fatal Outcome
Female
Gestational Age
Humans
Hydrophthalmos / diagnosis*
Hydrophthalmos / genetics
Infant, Newborn
Intraocular Pressure
Ophthalmoscopy
Receptor, Fibroblast Growth Factor, Type 3 / genetics
Tonometry, Ocular

Substances

FGFR3 protein, human
Receptor, Fibroblast Growth Factor, Type 3

Supplementary concepts

Axenfeld-Rieger syndrome