Population record
Saudi Arabia · 3 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia. The inheritance is often recessive and as such, CSNB may be more common among populations with a high degree of consanguinity. Here, we present a topic update and a review of the clinical and molecular genetic spectrum of CSNB in Saudi Arabia. In Saudi Arabia, a total of 24 patients with CSNB were identified, using a combination of literature search and retrospective study of previously unpublished cases. For the first time, we describe the fundus albipunctatus in two patients from Saudi Arabia, caused by recessive mutation in RDH5 and RPE65, where the former in addition featured findings compatible with cone dystrophy.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population. We present detailed phenotypic and genotypic features of a cohort of 24 subjects from a highly consanguineous population of Saudi Arabia SUBJECTS AND METHODS: We studied the clinical presentation and hormonal profiles of 24 subjects diagnosed with 5-α reductase deficiency and performed genetic testing on DNA isolated from their peripheral blood using polymerase chain reaction and direct sequencing of the SRD5A2.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “BACKGROUND: Propionic acidaemia is a global, metabolic disease, highly prevalent in Kingdom of Saudi Arabia. RESULTS: Of 24 patients, 16 (67%) were male. Consanguineous parents were 16 (67%).” | 0.95 | saudi_context_rules_v1 |