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Purpose Gene therapy for RPE65 retinopathy has been recently approved. The purpose of this study was to assess retinal structure and function in 3 siblings presenting with late-stage RPE65 retinopathy and to assess the unmet need for such therapy in Saudi Arabia. Methods Search of the retinal dystrophy registry at King Khaled Eye Specialist Hospital and clinical examination including multimodal retinal imaging, full-field electroretinography (ERG), dark adapted Electronic supplementary material The online version of this article (

Genetic testing was performed in 5 patients, and one patient declined testing. Samples of peripheral blood were obtained and DNA was extracted from leukocytes of the five individuals and were used to build a Polymerase Chain Reaction (PCR). After PCR amplification, a targeted next generation sequencing (NGS) was performed using a panel for recessive retinal dystrophies by Bioscientia (Ingelheim, Germany) for 4 patients and by the molecular diagnostic laboratory of King Faisal Specialist Hospital and Research Center (Riyadh, Saudi Arabia) for 1 patient. The panel of genes tested include ABCA4, ABHD12,

Purpose This study aims to measure the knowledge levels toward retinopathy of prematurity (ROP) among pediatricians covering neonatal intensive care units (NICUs) in the major hospitals in Tabuk, Saudi Arabia. To our knowledge, this is the first report to assess the awareness level of ROP in the NICU pediatricians in the region. Patients and Methods This is a quantitative, non-experimental, cross-sectional, descriptive study using self-administered electronic questionnaires to assess the knowledge level among NICU pediatricians at the main hospitals of Tabuk city. We used a self-administer online validated knowledge, attitude, and practice (KAP) questionnaire. A scoring system was implemented in the data analysis, depending on the correct chosen answers on the KAP questionnaire, to present the ROP knowledge level in the participants. Results The study included 41 NICU pediatricians. Most of the participants’ age exceeded 40 years (51.2%). The majority were recruited from either King Salman Military hospital (34.1%) or King Khalid hospital (31.7%). The average frequency of preterm infants seen per month exceeded 15 infants among 41.4% of the respondents. Most pediatricians recognized the important treatment modalities available for ROP (92.7%); however, only 24.4% of them could recognize that 32 weeks or less is the gestational age of the screening criteria for ROP. The overall knowledge score ranged between 4 and 10, out of a possible maximum of 12 with a mean ± SD of (6.68±1.47). The majority (75.6%) believe that the ROP treatment can successfully prevent blindness. Conclusion Our study demonstrated that the NICU pediatricians have good knowledge about the treatment modalities of ROP. However, their knowledge about the inclusion criteria of ROP screening was insufficient. Thus, we highlighted the necessity of raising the awareness level and the strict application of the clinical guidelines among NICU pediatricians and healthcare workers involved in managing ROP.