A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female.

Background: Gyrate atrophy of the choroid and retina (GA) is a rare autosomal recessive disorder characterized by nyctalopia, myopia, sharply demarcated expanding peripheral chorioretinal atrophic lesions, early cataract, progressive visual loss and hyperornithinemia. Only three cases of GA associated with rhegmatogenous retinal detachments (RRD) have been reported. The genotype-phenotype correlation of RRD in GA is limited by lack of genetic information in the previously reported cases. Here we report two young sisters with a characteristic GA phenotype associated with a novel variant in the ornithine aminotransferase gene (OAT), in whom one developed unilateral RRD at the age of 9 years.Materials and Methods: Retrospective report of two cases including genetic analysis and multimodal retinal imaging.Results: A 9-year-old Saudi girl presented with a funnel-shaped RRD, extensive proliferative vitreoretinopathy, peripheral choroidal detachment and neovascular glaucoma in her right eye. Fundus examination of her left eye showed an attached retina with sharply-demarcated peripheral chorioretinal atrophic patches suggestive of GA. Whole exome sequencing confirmed GA by revealing a homozygous c.980 C > G (p. Pro327Arg) variant in exon 8 of OAT. The RRD was inoperable. The chorioretinal lesions in the left eye enlarged slowly over 3 years of follow up. Examination of the proband's older sister revealed a similar but more advanced GA phenotype in both eyes.Conclusions: A characteristic GA phenotype associated with a novel variant in OAT is reported. This variant might be associated with childhood-onset RRD in the proband.

Comparison of Goldmann Applanation, Noncontact Air Puff, and Tono-Pen XL Tonometry in Normal Controls versus Glaucoma Patients at a University Hospital in Riyadh, Saudi Arabia.

PURPOSE: The purpose of this study is to compare intraocular pressure (IOP) measured by the Goldmann applanation tonometer (GAT), the Tono-Pen XL (TPXL), and a noncontact airpuff tonometer (NCT) in glaucoma patients and normal controls. METHODOLOGY: In the current study, two groups of individuals were recruited; the first group included glaucoma patients (glaucoma group) while the second one was a glaucoma-free group. The IOP was measured through GAT, NCT, and TPXL for the same participants by three different physicians in both groups. Measurements through the three devices were compared statistically. Correlations between different methods of assessment were also assessed. RESULTS: In the glaucoma group, the mean IOP measured was 16.0 ± 5.5 mmHg (range, 6-40 mmHg) with GAT 20.5 ± 6.9 mmHg (range, 10-52 mmHg) with the TPXL, and 20.2 ± 6.5 mmHg (range, 8-50 mmHg) with the NCT. In the control group, the mean IOP was 14.0 ± 2.7 mmHg (range, 9-19 mmHg) with GAT, 17.3 ± 3.8 mmHg (range 6-30 mmHg) with the TPXL, and 17.9 ± 3.9 mHg (range 10-27 mmHg) with the NCT. CONCLUSION: IOP measurements were approved among the three devices with relatively higher readings using both NTC and TPXL. All three methods are required to address different situations that present in the daily clinical and surgical practice.

Childhood and adolescent obesity: Primary Health Care Physicians' perspectives from Riyadh, Saudi Arabia.

BACKGROUND & OBJECTIVES: Primary health care (PHC) physicians are foremost to confront childhood and adolescent obesity. Our objective was to evaluate PHC Physicians perspectives for managing overweight/obesity in children and adolescents. METHODS: PHC services from eight public hospitals in Riyadh participated. A self-administered tool maintaining anonymity evaluated facilitators and barriers for managing overweight/obese children and adolescent patients. Physicians who 'always' recommended weight management for an overweight / obese patient during past year, by involving patient, parents, and others were classified as having positive and appropriate practice. RESULTS: Of the 58 respondents, 51.7% had appropriate practices. Lack of patient motivation (82.2%), and parental involvement (70.7%) were the major barriers. Physicians with appropriate practices differed in perspectives from those with less appropriate practices by attending continued education forums (p<0.026), referring patients to sub-specialty (p< 0.041), clinical knowledge (p<0.039), convinced on interventions (p<0.017), low concern for precipitating eating disorders (p<0.019), comfortable in examining obese patients (p<0.020), and considered patient's readiness for weight change (p< 0.007). CONCLUSION: Efforts are needed to equip PHC physicians in managing overweight and obesity in Saudi children and adolescents.