Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.

Early-onset, severe retinal dystrophy can be isolated or syndromic, presenting as part of an underlying systemic disease. Mainzer-Saldino syndrome, a rare systemic ciliopathy characterized by skeletal and renal disease, is caused by recessive mutations in the intraflagellar transport 140 chlamydomonas homologue (IFT140) gene. We present a series of 13 cases of early-onset retinal dysfunction with confirmed IFT140 mutations from 8 unrelated Saudi families belonging to 3 well-known tribes.

Determinants of quality of life in patients with hemorrhagic stroke, Saudi Arabia: A cross-sectional study.

Background: Previous studies demonstrated that stroke had an inverse impact on patients' physical, mental, and social quality of life.

Aim: To determine factors contributing to the health-related quality of life (HRQOL) of Saudi hemorrhagic stroke survivors.

Methods: A cross-sectional study was done at King Abdulaziz University Hospital (KAUH), Jeddah, KSA, on adult stroke patients.