Screening of the Seed Region of MIR184 in Keratoconus Patients from Saudi Arabia

Table 3

Summary of miR-184 mutations in keratoconus patients from different studies.

Study	Population	Number of cases	Phenotype	Mutation within MIR184	Mutation prevalence
Iliff et al. [38]	Nonspecified	8 (same family)	Anterior segment dysgenesis, corneal endothelial dystrophy, iris hypoplasia, congenital cataract, corneal stromal thinning (EDCIT syndrome)	+57C>T	In all cases (8); None in controls (2)
Hughes et al. [14]	Northern Irish	18 (same family)	Severe anterior KC and early onset anterior polar cataract	+57C>T	Only in affected single and pooled samples
Bykhovskaya et al. [26]	Spanish (Galicia, Spain)	5 (same family)	Congenital cataract with corneal thinning, congenital cataract with keratoconus (proband)	+57C>T	3 affected individuals
Lechner et al. [25]	Mixed ethnicity (European Caucasian-South Indian)	780 (unrelated)	KC and no lens or iris abnormalities; KC with cataract but no iris abnormalities	+3A>G; +8C>A	2 affected individuals (0.25% of screened cases)
Current study	Middle Eastern (Saudi Arabian)	134 familial and sporadic	Keratoconus without congenital cataract	N/A	0