Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting from dysfunction of several specific and essential visual processing mechanisms. The inheritance is often recessive and as such, CSNB may be more common among populations with a high degree of consanguinity. Here, we present a topic update and a review of the clinical and molecular genetic spectrum of CSNB in Saudi Arabia. Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in autosomal recessive CSNB: RIMS2, GNB3, GUCY2D and ABCA4. These have been associated with syndromic cone–rod synaptic disease, ON bipolar cell dysfunction with reduced cone sensitivity, CSNB with dysfunction of the phototransduction (Riggs type) and CSNB with cone–rod dystrophy, respectively. In Saudi Arabia, a total of 24 patients with CSNB were identified, using a combination of literature search and retrospective study of previously unpublished cases. Recessive mutations in TRPM1 and CABP4 accounted for the majority of cases (5 and 13 for each gene, respectively). These genes were associated with complete (cCSNB) and incomplete (icCSNB), respectively, and were associated with high myopia in the former and hyperopia in the latter. Four novel mutations were identified. For the first time, we describe the fundus albipunctatus in two patients from Saudi Arabia, caused by recessive mutation in RDH5 and RPE65, where the former in addition featured findings compatible with cone dystrophy. No cases were identified with any dominantly inherited CSNB.

Background: Patients with chronic medical disorders are substantially more likely to have sleep related issues. Previously, various authors have reported sleep disruptions to be common in rheumatic diseases, although such sleep related issues in the spondyloarthropathies have not received much attention.. Aim: The present study was aimed to assess the effect of spondyloarthropathies on sleep quality and to see whether this effect is associated with disease activity. Material and Methods: This cross-sectional study was conducted in the rheumatology clinic, King Khalid University Hospital, during the duration of two months. A total of 85 diagnosed cases of spondyloarthritis were included. All participants were interviewed regarding their Demographic details, disease duration, medications, treatment regimens and physical examination. Sleep disturbance was measured using Pittsburgh Sleep Quality Index (PSQI), the Insomnia Severity Index, and the Ankylosing Spondylitis Quality of Life scale. The intensity of disease activity was evaluated using the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), and patient’s functional status was evaluated using the Bath Ankylosing Spondylitis Functional Index (BASFI). Blood inflammatory markers like ESR levels and CRP levels were also calculated for each patient. Results: Among the total 79 cases included, mean age of patients was 41.06±11.78 years, 40 (50.6%) were females, mean disease duration was 5 years. Diagnoses included Ankylosing spondylitis (48.10%), Psoriatic arthritis (43.04%), Undifferentiated spondyloarthopathy (6.33%) and IBD-related arthropathy (2.53%). Spondyloarthritis was observed to be associated with considerable impaired sleep quality on (PSQI) questionnaire. Six out of seven studied components came out to be worse and the only component which remained unaffected was “use of sleep Medication”. A significant correlation was observed between disease severity and patients ESR and CRP levels, and a significant correlation was observed between BASDAI score and all seven sleep quality parameters and overall PSQI scores. Both BASDAI score and BASFI scores correlated significantly with each other and a significant correlation was observed between the functional status (BASFI score) and Six sleep quality parameters except for use of sleep medication. Conclusion: We conclude that the sleep related problems were significantly higher in patients with spondyloarthritis and patients during active phase of disease had decreased sleep quality. Keywords: spondyloarthropathies, sleep quality, disease activity, PSQI scores.

Objectives Identify specific maxillofacial trauma patterns associated with cervical spine injuries. Methods The protocol was developed according to (PRISMA-P) and was admitted to PROSPERO under accreditation code #CRD42020177816. Furthermore, the reporting of the present SR was conducted based on the PRISMA checklist. Results Of the 1,407,750 patients recorded, a total of 115,997 patients (12.13%) had MFF with an associated CSI with a gender proportion (M:F) of 3.63:1 respectively. Motor vehicle accident was the most common cause of the combined Maxillofacial Trauma (MFT) and CSI. The most common CSI location was at the C2, followed by the C5 cervical spines. The most common location of a maxillofacial fracture resulting in a CSI was the mandible. Conclusion The incidence of the association of CSIs with MFT has been low (12.13%). Nevertheless, in cases of an isolated mandibular trauma due to a severe blow presenting with a low Glasgow Coma Scale, maxillofacial surgeons should be at a high alert of an associated CSI.

Background: Abutment surfaces are being designed to promote gingival soft tissue attachment and integration. This confirms implant survival for long term by forming a seal around the prosthetics. Objectives: This study was done to compare the biocompatibility of three implant abutments: titanium uncoated, Ti-nitride coated, and modified polyetheretherketone (PEEK) with human gingival keratinocytes. Materials and Methods: The titanium-uncoated, titanium-nitride-coated, and modified PEEK discs (13 mm × 3 mm) were fabricated and compared with uncoated polyester cell culture discs, which were used as controls. These three implant abutments were evaluated for biocompatibility with respect to human gingival keratinocytes for viability, morphology, proliferation, and migration by scanning electron microscopy imaging and scratch wound healing assays. Measurements of roughness show changes between the investigated surfaces. Results: Keratinocytes cultured on all examined surfaces indicated adhesion and attachment. An assay of cell viability showed no substantial variances among the groups. The modified PEEK surface showed greater cell proliferation and migration among the three abutment materials. Conclusion: All three abutment material surface types showed similar epithelial biological responses. However, modified PEEK material showed the highest biocompatibility.