Ocular evaluation and genetic test for an early Alström Syndrome diagnosis
Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease. Observations: The first case is of a 2-year-old boy with history of spasmus nutans who presented...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2020-12-01
|
| Series: | American Journal of Ophthalmology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993620301882 |