Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.

PURPOSE: Achromatopsia is a rare stationary retinal disorder that primarily affects the cone photoreceptors. Individuals with achromatopsia present with photophobia, nystagmus, reduced visual acuity (VA), and color blindness. Multiple genes responsible for achromatopsia have been identified (e.g. cyclic nucleotide-gated channel subunit alpha 3 [CNGA3] and activating transcription factor 6). Studies have assessed the role of gene therapy in achromatopsia. Therefore, for treatment and prevention, the identification of phenotypes and genotypes is crucial. Here, we described the clinical manifestations and genetic mutations associated with achromatopsia in patients from Saudi Arabia. METHODS: This case series study included 15 patients with clinical presentations, suggestive of achromatopsia, who underwent ophthalmological and systemic evaluations. Patients with typical achromatopsia phenotype underwent genetic evaluation using whole-exome testing. RESULTS: All patients had nystagmus (n = 15) and 93.3% had photophobia (n = 14). In addition, all patients (n = 15) had poor VA. Hyperopia with astigmatism was observed in 93.3% (n = 14) and complete color blindness in 93.3% of the patients (n = 14). In the context of family history, both parents of all patients (n = 15) were genetic carriers, with a high consanguinity rate (82%, n = 9 families). Electroretinography showed cone dysfunction with normal rods in 66.7% (n = 10) and both cone-rod dysfunction in 33.3% (n = 5) patients. Regarding the genotypic features, 93% of patients had variants in CNGA3 (n = 14) categorized as pathogenic Class 1 (86.7%, n = 13). Further, 66.7% (n = 10) of patients also harbored the c.661C>T DNA variant. Further, the patients were homozygous for these mutations. Three other variants were also identified: c.1768G>A (13.3%, n = 2), c.830G>A (6.6%, n = 1), and c. 822G >T (6.6%, n = 1). CONCLUSION: Consanguinity and belonging to the same tribe are major risk factors for disease inheritance. The most common genotype was CNGA3 with the c.661C>T DNA variant. We recommend raising awareness among families and providing genetic counseling for this highly debilitating disease.

Hypertension in pediatric patients admitted to inpatient ward at King Abdulaziz Universty Hospital in Saudi Arabia: Prevalence, causes, and outcomes.

BACKGROUND: The secondary hypertension (HTN) is the predominant form of HTN in pediatrics. Renal diseases and renovascular anomalies are the most commonly reported causes. In this study, we aimed to identify the prevalence, causes, and outcomes of secondary HTN in Saudi Arabia. METHODS: A retrospective study was conducted among 3,640 pediatric patients aged between 0 and 18 years, admitted to the pediatric nephrology ward at King Abdulaziz University Hospital, Jeddah, Saudi Arabia. The study has been approved by the ethics review committee of King Abdulaziz University. RESULTS: Prevalence of secondary HTN due to renal disease was (77.0%). Most of the cases were diagnosed with stage 5 renal disease (78.3%). Small kidney size was frequently diagnosed (n = 29, 11.9%), followed by large kidney size (n = 26, 10.7%). One third of the cases (n = 79, 32.4%) were under control, 49 (20.1%) lost follow-up, and 24 (10.1%) deceased. A total of 61 (33.1%) patients progressed to end-stage renal disease and patientswere managed by different types of treatments. CONCLUSION: The prevalence of secondary HTN due to renal disease is considered to be high in pediatric patients admitted to King Abdulaziz University. Several renal diseases in the renal system are associated with secondary HTN mostly attriubuted to renal malformation. In addition, renal affection, cerebral infarction, bleeding, left ventricular hypertrophy, and valvular lesion are the highest reported complications in our population. Follow-up with ECHO and brain CT is highly recommended in pediatric HTN. Future studies on a larger sample and vigorous follow-up are recommended.

Saudi Children's Perception of Strabismus: A Hospital-Based Study.

PURPOSE: Children with strabismus may face difficulties interacting with their peers in elementary school. This study investigates the psychosocial effect of different types of strabismus on Saudi children's selection of a playmate. METHODS: Photographs of orthotropic children were digitally modified to simulate various magnitudes of strabismus. Orthotropic children with normal visual acuity viewed 18 sets of paired photographs and were asked to choose a playmate from each pair. Parents were asked to fill out a questionnaire on their socioeconomic background and to determine whether surgery should be indicated in strabismic patients for psychosocial reasons. Parents were also asked to rate their perception of seven personal characteristics of two images of the same child (one orthotropic and one strabismic). RESULTS: Two hundred and thirty-three children, aged 3-15 years (mean age: 9.94 [3.6] years), were studied. Children aged ≤6 years were significantly more likely not to distinguish between orthotropic children and those with strabismus (P < 0.001). Out of 233 participants, 69.6% were significantly in favor of orthotropic faces as opposed to 30.4% (P < 0.0001). Children perceived esotropia as less disturbing than exotropia and hypertropia (P < 0.001). Smaller magnitudes of strabismus were significantly preferred over larger angles (P < 0.001). Parents judged strabismic faces more negatively than orthotropic faces on all seven characteristics. Almost 88.4% of the adults thought that strabismic patients should undergo surgery for correction. CONCLUSIONS: Our findings suggest that children with apparent strabismus are perceived negatively and might be subjected to social alienation at a young age. Therefore, there is a need for strategies to address negative social bias toward children with strabismus and to enhance their peer acceptance in our society.

Perception and Knowledge of Facial Plastic Surgery Among Health Care Professionals at Tertiary Care Center, Jeddah, Saudi Arabia: Cross Sectional Study.

INTRODUCTION: Plastic surgery is a medical specialty involving the restoration, reconstruction, or alteration of the body. Knowledge about facial plastic surgery among doctors is limited according to some literatures and enriched according to others, depending on the country and study population. AIM: Aim of the study was to evaluate level of knowledge of health care professionals regarding facial plastic surgery. MATERIAL AND METHODS: A cross-sectional study included total of 261 health care professionals (consultants, specialists and residents in training) at King Abdul-Aziz University Hospital (KAUH) from all subspecialties during July 2018. The data collected using pre-designed questionnaire and analyzed using professional statistics software. RESULTS: Among 261 participants, sex distribution shows a male-female ratio of 2.78:1. The majority (62.8%) of participants were residents. Mean age (± SD) of participants was 32.28 ± 8.43. Pediatrics, internal medicine, and general surgery were the most common specialties. Among participants, 75.5% agreed that taking training in plastic surgery program is a requirement to be a facial plastic surgeon whether it should be accompanied with at least one other surgery training (23%) or more than one other training (22.2%). The majority (97.7%) have never undergone a facial plastic surgery operation and 78.2% were not willing to undergo one. CONCLUSION: The study concludes that the knowledge and perception among healthcare professionals in KAUH regarding facial plastic surgeries is on relatively good basis but needs more updates and trainings.

Perception and Knowledge of Facial Plastic Surgery Among Health Care Professionals at Tertiary Care Center, Jeddah, Saudi Arabia: Cross Sectional Study.

INTRODUCTION: Plastic surgery is a medical specialty involving the restoration, reconstruction, or alteration of the body. Knowledge about facial plastic surgery among doctors is limited according to some literatures and enriched according to others, depending on the country and study population. AIM: Aim of the study was to evaluate level of knowledge of health care professionals regarding facial plastic surgery. METHODS: A cross-sectional study included total of 261 health care professionals (consultants, specialists and residents in training) at King Abdul-Aziz University Hospital (KAUH) from all subspecialties during July 2018. The data collected using pre-designed questionnaire and analyzed using professional statistics software. RESULTS: Among 261 participants, sex distribution shows a male-female ratio of 2.78:1. The majority (62.8%) of participants were residents. Mean age (± SD) of participants was 32.28 ± 8.43. Pediatrics, internal medicine, and general surgery were the most common specialties. Among participants, 75.5% agreed that taking training in plastic surgery program is a requirement to be a facial plastic surgeon whether it should be accompanied with at least one other surgery training (23%) or more than one other training (22.2%). The majority (97.7%) have never undergone a facial plastic surgery operation and 78.2% were not willing to undergo one. CONCLUSION: The study concludes that the knowledge and perception among healthcare professionals in KAUH regarding facial plastic surgeries is on relatively good basis but needs more updates and trainings.

Factors Influencing Surgeons' Double-Gloving Practice.

BACKGROUND: We sought to evaluate the practice of double gloving among surgeons and to determine the factors that affect compliance with such practice at King Abdulaziz University Hospital (KAUH). METHODS: A survey was conducted among surgeons in active training from all departments at KAUH through the use of a questionnaire from May through July 2017. RESULTS: Of the 220 surgeons who worked at KAUH, 183 agreed to participate in the study for a response rate of 83.2%. Less than half of the respondents (44.3%) stated that they wear double gloves. The main reason for wearing them was "self-protection" (63%), whereas the main reason for not wearing them was that they "think it is required only for special cases" (62.7%). The association between wearing double gloves and the subspecialty was significant (p = 0.033), the highest rate being found among orthopedic surgeons. Among those who usually double glove 84% of needle-prick injuries occurred when they were not double gloved. Eighty percent of needle-prick injuries occurred while surgeons were wearing single gloves. CONCLUSIONS: Less than half of the respondents practice double gloving, the main reason being self-protection. The most common reason for not wearing them was that they are required only for special cases. There was notable association between wearing double gloves and orthopedic surgery. Most needle-prick injuries occurred while wearing single gloves. We believe increasing awareness of the benefits of double gloving might change the practice.