CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia

The aim of this study is to determine congenital adrenal hyperplasia [CAH] with the pattern of CYP21A2 gene-mutations in Saudi children. Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, we thoroughly examined 11 patients with CAH and 2 asymptomatic individuals with a history of affected siblings. Additionally, we sequenced the full coding regions of the CYP21A2 gene and screened the gene for deletion[s]/duplication[s] using the multiplex ligation-dependent probe amplification [MLPA] technique. Nine patients had classic CAH and presented with ambiguous genitalia and/or salt losing crisis. Two patients had the non-classic form of CAH and presented with precocious puberty. The remaining 2 subjects were asymptomatic. Screening the CYP21A2 gene, we detected p.Gln318X mutation in 4 patients, c.290 -13 C>G [IVS2-13C>G] in another 4, and a common deletion, involving exons 6 and 8 in 3 patients. Our strategy of Sanger sequencing followed by MLPA was very successful in detecting CYP21A2 mutations in all patients with CAH

Advanced techniques in molecular genetics and its implications on genetic testing and screening in the Arabian peninsula

Molecular diagnosis of human disorders is referred to as the detection of the various pathogenic mutations in DNA and/or RNA samples in order to facilitate detection, diagnosis, sub-classification, prognosis, and monitoring response to therapy. The use of molecular biology techniques to expand scientific knowledge of the natural history of diseases, identify people who are at risk for acquiring specific diseases, and diagnose human diseases at the nucleic acid level. Molecular diagnostics combines laboratory medicine with the knowledge and technology of molecular genetics and has been enormously revolutionized over the last decades, benefiting from the discoveries in the field of molecular biology. This review will discuss in details the recent advances in molecular diagnostics and how the Arabian Peninsula can benefit from those techniques knowing for a fact the high percentages of consanguineous marriages and the tribal nature of marriages which resulted in high incidence of genetic diseases

Outcomes of 3 hours part-time occlusion treatment combined with near activities among children with unilateral amblyopia

To evaluate the outcome of part-time occlusion therapy with or without near activities in monocular amblyopic patients. One hundred and thirty patients who prescribed daily occlusion therapy [part-time occlusion] were followed-up for a 12-week period. The study was carried out in the Pediatric Ophthalmology and Orthoptics Clinics of King Abdul-Aziz University Hospital, Riyadh, Saudi Arabia for the period from January to November 2010. Sixty-five patients were recommended to undertake the 3 hours of near visual activities [such as reading a book during patching] while the other 65 patients were not advised to do any near activity. Main outcome measures were best corrected visual acuity [VA] for both groups and line improvement. The total line of VA improved from baseline by an average of 6.7 +/- 2.37 line log MAR [logarithm of the minimum angle of resolution] units in the group of patching with near activities and by an average of 5.3 +/- 2.04 line log MAR units in the group of patching without near activities. All type of amblyopia [strabismic, anisometropic, and mixed types of amblyopia] improved significantly after patching with near activities. Both moderate and severe amblyopia improved significantly in the group of near activities compared with the group without near activities. Performing near activities while patching in the treatment of anisometropic, stabismic, or combined amblyopia improves the VA outcome more than patching alone

One month outcome of ocular related emergencies in a tertiary hospital in Central Saudi Arabia

To investigate the number and characteristics of patients attending the Accident/Emergency [A/E] Department of a tertiary care hospital in Riyadh, and to determine their route of referral, and pattern of ocular emergency cases. A retrospective study was carried out using the records and history of all patients attending the A/E at King Abdulaziz University Hospital [KAUH] in Riyadh, Kingdom of Saudi Arabia in July 2010. Data collected included time of arrival, age, gender, source of referral, principal diagnosis, attending doctor, action taken, and discharge plan. A total of 1,412 patients were recruited in our study with an average daily attendance of 47 patients. A total of 863 [61%] patients were male, and their mean age was 28.2 years. The most frequent diagnosis in patients was trauma [382, 27%], followed by conjunctivitis [211, 14.9%], lids and lacrimal system [133, 9.4%], retina problems [51, 3.6%], glaucoma [30, 2.1%], neuro-ophthalmology [22, 1.6%], keratitis [20, 1.4%], uveitis [10, 0.7%], and episcleritis [5, 0.35%]. Most cases [77.5%] seen were self-referrals. Additionally, 712 [50.4%] of cases were considered as non-emergency, which are visiting the A/E for dry eye, chalazion, blepharitis, and allergy. Most cases seen at our ophthalmic A/E had non-urgent conditions that could be managed satisfactorily by trained ophthalmic assistants under supervision of an ophthalmologist

Leber's hereditary optic neuropathy: the mitochondrial connection revisited

Our current understanding of Leber's hereditary optic neuropathy [LHON]-mitochondrial connection falls short of comprehensive. Twenty years of intensive investigation have yielded a wealth of information about mitochondria, the mitochondrial genome, the metabolism of the optic nerve and other structures, and the phenotypic variability of classic LHON. However, we still cannot completely explain how primary LHON mutations injure the optic nerve or why the optic nerve is particularly at risk. We cannot explain the incomplete penetrance or the male predominance of LHON, the typical onset in young adult life without warning, or the synchronicity of visual loss. Moreover, primary LHON mutations clearly are not present in every family with the LHON phenotype [including multigenerational maternal inheritance], and they are present in only a minority of individuals who have the LHON optic neuropathy phenotype without a family history. All lines of evidence point to abnormalities of the mitochondria as the direct or indirect cause of LHON. Therefore, the mitochondria-LHON connection needs to be revisited and examined closely. This review will attempt to do that and provide an update on various aspects of LHON

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Arabs

To investigate the Notch 3 mutation spectrum in Arab patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy CADASIL, which is an inherited cerebrovascular disease characterized by recurrent subcortical ischemic stroke starting in the third or fourth decade. Complete neurological evaluation and sequencing of the Notch 3 gene were carried out at King Faisal Specialist Hospital and Research Centre in 2007 on 2 families from Riyadh, Kingdom of Saudi Arabia and Sudan affected by CADASIL. The index cases had adult onset stroke, vascular dementia, behavioral and psychiatric symptoms and accelerated deaths. In both families, abnormal magnetic resonance imaging findings were detected in symptomatic and asymptomatic individuals. All Notch 3 exons were screened for mutations in both families and no known or novel mutation could be found; although, in one family the brain biopsy showed the typical granular osmiophilic material deposition and the vascular smooth muscle cells. This is the first 2 cases of CADASIL in Arabs, which occur without an obvious Notch 3 mutation