[PREVALENCE OF ASTIGMATISM BEFORE ROUTINE CATARACT SURGERY: COMPARISON BETWEEN BEDOUIN AND JEWISH POPULATION IN SOUTHERN ISRAEL].

Objectives: To assess the prevalence of corneal astigmatism among patients before routine cataract surgery and overall ocular difference between Jewish and Bedouin population in the south of Israel.

Methods: Retrospective research collecting biometric information from IOLMaster (Carl Zeiss Meditec AG, Germany) in patients attending cataract surgery at Soroka University Medical Center, Beer-Sheva, Israel between the years 2015 -2016.

Results: Mean corneal astigmatism among all cohorts was 1.

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.

Whole exome sequencing (WES) has become routine in clinical practice, especially in studies of recessive hereditary diseases in inbred consanguineous families, where homozygosity of a founder mutation is assumed. Multiple members of two consanguineous families of a single Bedouin tribe were diagnosed with apparently autosomal recessive/pseudo-dominant retinitis pigmentosa (RP). Affected individuals exhibited severe visual impairment with nyctalopia, marked constriction of visual fields, markedly reduced and delayed responses on electro-retinography (ERG) and eventual loss of central vision.