SCREENING FOR MIR184 MUTATIONS IN IRANIAN PATIENTS WITH KERATOCONUS
Published 2023
- 27th ESCRS Winter Meeting
Reference: P128
| Type: Free Paper Submission
| DOI:
10.82333/cc9c-5150
Authors:
Nader Nassiri* 1
, Kourosh Sheibani 2
, Sara Kavousnezhad 3
1Ophthalmology,Imam Hossein Medical Center,Tehran,Iran, Islamic Republic Of, 2Basir Eye Health Research Center,Tehran,Iran, Islamic Republic Of, 3Vanak Eye Surgery Center,Tehran,Iran, Islamic Republic Of
Purpose
To investigate whether microRNA (MIR)-184 mutations make a substantial contribution to keratoconus (KCN) among affected Iranian patients.
Setting
General Eye Hospital, Tehran, Iran.
Methods
A total of 47 Iranian KCN patients, diagnosed based on family history, clinical examinations using slit lamp biomicroscopy, refraction and corneal topography were enrolled in this study. The pri-miR-184 encoding gene obtained from the DNAs of all participants was amplified using polymerase chain reaction and subsequently sequenced by the Sanger dideoxynucleotide protocol. The sequences were compared to MIR184 reference sequence in order to identify sequence variations. The potential effects of a single variation observed on RNA structure was predicted.
Results
Only one sequence variation, +39G >T, was observed within the pri-miR-184 encoding sequence in one proband. The patient's KCN-affected sister harbored the same variation. The variation was not novel and was recently shown to be present at similar frequencies among large cohorts of KCN patients and control individuals.
Conclusion
Mutations in MIR-184 are not a major cause of keratoconus among Iranian patients. The pri-miR-184 sequence needs to be screened in larger cohorts in order to establish whether mutations in the gene are present at low frequencies among Iranian patients.