solomonbenjamind
Q452
Which of the following conditions primarily involves anterior eye segment anomalies, which may occur along with other findings such as dental anomalies or craniofacial and skin manifestations?
Achondroplasia
0%
Axenfeld-Rieger syndrome
85.7%
Ehlers-Danlos syndrome
14.3%
Homocystinuria
0%
Poll ended at .
Jun 22, 2023 at 5:27pmWeb
Show threadsolomonbenjamindJun 30, 2023
Q452 answer: Axenfeld-Rieger syndrome
https://pubmed.ncbi.nlm.nih.gov/12015277/
https://pubmed.ncbi.nlm.nih.gov/35882526/
Molecular genetics of Axenfeld-Rieger malformations - PubMed

Axenfeld-Rieger (AR) malformations are autosomal dominant developmental defects of the anterior segment of the eye, and often result in glaucomatous blindness. AR malformations are associated with mutations in two transcription factor genes (PITX2 and FOXC1) expressed throughout eye ontogeny. Studie …

PubMed