A patient with concurrent Axenfeld-Rieger and Stickler syndromes verified by molecular genetics
Purpose: To report a case of Axenfeld-Rieger and Stickler Syndrome in a pediatric patient. Observations: A 3-month-old male was referred to the glaucoma clinic after he was noted to have elevated intraocular pressures in both eyes. His family history was notable for infantile glaucoma on his materna...
| Published in: | American Journal of Ophthalmology Case Reports |
|---|---|
| Main Authors: | Jason Fan, Natasha Ferreira Santos da Cruz, Kenneth C. Fan, Catherin I. Negron, Guillermo Amescua, Alana L. Grajewski, Ta C. Chang, Audina M. Berrocal |
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-12-01
|
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993623001391 |
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