ABSTRACT
To report an adult with autosomal recessive Best vitelliform macular dystrophy with a new homozygous BEST1 mutation, the management of a cystoid macular edema with intravitreal aflibercept in the proband, and the findings in the parents, carriers of heterozygous BEST1 mutations. A 28-year-old female presented with blurry andreduced vision in her both eyes with bilateral vitelliform macular lesions. The patient's parents were also examined. Examinations included electrooculogram (EOGs), imaging studies, and BEST1 gene testing. Interventions included treatment with intravitreal aflibercept for both eyes. The patient presented with visual acuity of 20/20 OD 20/30 OS, RPE changes, multifocal subretinal yellowish deposits resembling vitelliform deposits and subretinal fluids. Cystoid macular edema developed after one month, causing vision reduction (20/28 OD 20/30 OS). Visual acuity recovered to 20/20 OU after serial intravitreal aflibercept injections. The proband showed subnormal EOG Arden ratios. Molecular testing showed the homozygous missense variant c.695T>G p. (IIe232Ser) In exon 6 of the BEST1 mutations and to the best of our knowledge, this variant, which was confirmed by conventional Sanger sequencing, has neither been annotated in databases nor been described in the literature so for (Human Genome Molecular Database 2018.1). In the heterozygous parents, EOGs were subnormal, and minimal autofluorescence changes were seen. Clinical Relevance: Prompt recognition and treatment of cystoid macular edema management effectively restore vision. Awareness and recognition of recessive inheritance permit correct diagnosis and counseling.
ABSTRACT
PURPOSE: To evaluate the impact of the current pandemic on ophthalmology residency training in Saudi Arabia, focusing on its effects on clinical education, training, and the mental well-being of the trainees. METHODS: An online self-administered questionnaire was distributed among residents in the Saudi ophthalmology training programs between July 7 and 14, 2020. In this study, we explored residents' opinions regarding training disruption and virtual education. The patient health questionnaire (PHQ-9) was used to assess the COVID-19 pandemic's impact on their mental health. We used descriptive statistics for data analysis. RESULTS: Out of 183 registered ophthalmology residents, 142 participated in this study. Ninety-six participants (35.4%) were rotated at a specialized eye hospital during the COVID-19 pandemic, while 52 (19.2%) had rotations in the ophthalmology department at general hospitals. Those who rotated in both types of hospitals were 123 (45.4%). According to the participants, there was a significant decline in exposure to surgical and office-based procedures compared to emergency eye consultations (Friedman P <0.001). The COVID-19 pandemic's effect on mental health was reported by 100 (70.5%) participants. Eighty-five (55.4%) respondents were satisfied with the virtual method of education. CONCLUSION: COVID-19 pandemic has disrupted residents' clinical and surgical training in the Saudi ophthalmology training programs. Additionally, we believe that COVID-19 may have a negative impact on trainees' mental health. Fortunately, the current pandemic provided an innovative education method that will likely be used even after the pandemic.
