Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society

A patient who had been diagnosed with infantile retinal dystrophy developed renal failure in his twenties, at which time the diagnosis was revised to Senior-Loken syndrome. He was poorly compliant. At 36 years old, he experienced a sudden drop in visual acuity in the setting of cramping and fatigue and was found to be in uremic crisis. Six months after the event and its treatment, his vision failed to improved. Optic nerve pallor was out of proportion to the retinal dystrophy, and the presumed reason for his new visual loss was uremic optic neuropathy...

No abstract text is available yet for this article.

Multimodal imaging and genetic testing allow sophisticated assessment of suspected inherited retinal disease. Given the availability of such technology, some question whether the full-field electrogram (ffERG) is needed anymore. In fact, a ffERG remains essential for certain clinical scenarios. The goal of this case-based review is to provide a clear understanding of what clinical situations warrant a ffERG. All practicing ophthalmologists should be familiar with this information.

Mutations in the ALMS1 gene have been linked to isolated inherited retinal dystrophy or Alström syndrome. This report illustrates the unique pattern of ALMS1 -associated diseases in a set of three simplex Saudi patients originating from unrelated consanguineous families. A detailed ophthalmological assessment was performed at the Department of Ophthalmology at King Saud University, Riyadh, Saudi Arabia. Next-generation sequencing vision panel revealed recessive ALMS1 mutations (reference sequence NM_015120)...

PURPOSE: The purpose of this study was to develop a visually guided swim assay (VGSA) for measuring vision in mouse retinal disease models comparable to the multi-luminance mobility test (MLMT) utilized in human clinical trials. METHODS: Three mouse retinal disease models were studied: Bardet-Biedl syndrome type 1 ( Bbs1M390R/M390R ), n = 5; Bardet-Biedl syndrome type 10 ( Bbs10-/- ), n = 11; and X linked retinoschisis (retinoschisin knockout; Rs1- KO), n = 5. Controls were normally-sighted mice, n = 10...

PURPOSE: Refractive errors are common in Saudi Arabia and keratorefractive surgeries are usually done to correct them. However, not all patients are fit and complications postoperatively are a concern. Implantable collamer lens (ICL) implantation can be used for patients who are not fit for keratorefractive surgeries. ICL can also be used for keratoconus. We elected to evaluate the outcomes of patients who had ICL implantation for refractive errors or keratoconus. METHODS: We retrospectively reviewed patients aged between 21 and 45 years old, who attended the anterior segment clinic at King Khaled Eye Specialist Hospital and who had spherical equivalent (SE) ranging between (+16 to -23 diopters), and had ICL implantation between February 2015 and September 2017...

Pediatric retinal vascular diseases are a spectrum with overlapping phenotypes and related genes. Retinal vascular development is biphasic. Vasculogenesis is responsible for the formation of primordial vessels leading to the four major arcades in the posterior retina. Angiogenesis, which is vascular endothelial growth factor dependent, is responsible for the formation of new vessels through budding from existing vessels, forming the peripheral vessels, increasing the capillary density of the central retina, and forming the superficial and deep capillary plexus...

PURPOSE: The aim of this study is to determine the prevalence of pseudoexfoliation syndrome in patients with cataracts in King Hamad University Hospital (KHUH) and rates of complication in pseudoexfoliation (PXF) patients postoperatively and 2-year follow-up. METHODS: A retrospective analysis was conducted on medical records of PXF patients who underwent phacoemulsification and extracapsular cataract extraction in KHUH, Bahrain, between August 31, 2016, and December 30, 2018...

The BEST1 gene encodes bestrophin-1, a homopentameric ion channel expressed in the retinal pigment epithelium (RPE), where it localizes to the basolateral plasma membrane. Pathogenic variants in this gene can cause different autosomal dominant and recessive inherited retinal diseases (IRDs), collectively named "bestrophinopathies." These disorders share a number of clinical and molecular features that make them an appealing target for gene therapy. Clinically, bestrophinopathies are often slowly progressive with a wide window of opportunity, and the presence of subretinal material (vitelliform deposits and/or fluid) as a hallmark of these conditions provides an easily quantifiable endpoint in view of future clinical trials...

PURPOSE: The purpose of the study was to evaluate the intermediate-term outcomes of Aurolab aqueous drainage implant (AADI) in terms of intraocular pressure (IOP) lowering from baseline levels, the number antiglaucoma medications (AGMs) in the postoperative phase, and the rate of complications. METHODS: It was a retrospective interventional case series. All patients who underwent AADI surgeries with sulcus fixation from March 2018 to September 2018 at a tertiary eye care hospital in North India with a minimum follow-up of 1 year were recruited for the study...

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...

PURPOSE: The purpose of the study was to evaluate the visual outcomes and recurrence rate of patients with macular corneal dystrophy (MCD) who have undergone phototherapeutic keratectomy (PTK). METHODS: This retrospective, single-centered study enrolled patients from King Khaled Eye Specialist Hospital who had undergone PTK for MCD between 2000 and 2020. Pre-, intra-, and post-operative data were collected, and the primary outcome measures included uncorrected visual acuity, best-corrected visual acuity (BCVA), spherical equivalent, central keratometry, keratometric astigmatism, recurrence rate, and necessity of subsequent surgery...

PURPOSE: This study reports parental attitudes towards preimplantation genetic diagnosis (PGD) and their satisfaction with genetic counseling services offered by a territory eye care hospital in Saudi Arabia. METHODS: This was a cross-sectional study of 30 parents (either father or mother) of children affected by recessive genetic ocular disorders. Their basic knowledge of recessive genetic disorders, attitude toward PGD, and satisfaction with counseling services were assessed using structured telephonic interviews...

Retinitis pigmentosa GTPase regulator (RPGR) -related retinopathy is a retinal dystrophy inherited in a X-linked recessive manner that typically causes progressive visual loss starting in childhood with severe visual impairment by the fourth decade of life. It manifests as an early onset and severe form of retinitis pigmentosa. There are currently no effective treatments for RPGR -related retinopathy; however, there are multiple clinical trials in progress exploring gene augmentation therapy aimed at slowing down or halting the progression of disease and possibly restoring visual function...

Deep learning is the state-of-the-art machine learning technique for ophthalmic image analysis, and convolutional neural networks (CNNs) are the most commonly utilized approach. Recently, vision transformers (ViTs) have emerged as a promising approach, one that is even more powerful than CNNs. In this focused review, we summarized studies that applied ViT-based models to analyze color fundus photographs and optical coherence tomography images. Overall, ViT-based models showed robust performances in the grading of diabetic retinopathy and glaucoma detection...

No abstract text is available yet for this article.

PURPOSE: Colors have been shown to improve reading performance; however, the effect of colors on Arabic orthography has not been studied. This study aimed to design and create a chromatic acuity chart to evaluate the effect of chromatic contrast on Arabic reading performance. METHODS: Color selection for the newly developed chromatic acuity chart was based on the contrast between the L, M, and S cones. The colors were chosen to have a luminance of approximately 13...

PURPOSE: Detection of graft failure of post-penetrating keratoplasty (PKP) patients from the proprietary dataset using algorithms trained in Automated Deep Learning (AutoML). METHODS: This was an observational cross-sectional study, for which AutoML algorithms were trained following the success/failure labeling strategy based on clinical notes, on a cohort corresponding to 220 images of post-keratoplasty anterior pole eyes. Once the image quality criteria were analyzed and the dataset was pseudo-anonymized, it was transferred to the Google Cloud Platform, where using the Vertex AI-AutoML API, cloud- and edge-based algorithms were trained, following expert recommendations on dataset splitting (80% training, 10% test, and 10% validation)...

The retina is a vulnerable structure that is frequently affected by different systemic conditions. The main mechanisms of systemic retinal damage are either primary insult of neurons of the retina, alterations of the local vasculature, or both. This vulnerability makes the retina an important window that reflects the severity of the preexisting systemic disorders. Therefore, current imaging techniques aim to identify early retinal changes relevant to systemic anomalies to establish anticipated diagnosis and start adequate management...

Whitish hypermelanocytic flake-like lesions on scanning laser ophthalmoscopy (SLO) multicolor posterior pole imaging (PPI) can correspond to several conditions, including simple nevi or shallow choroidal melanomas, paraneoplastic fundus lesions like bilateral diffuse uveal melanocytic proliferation, or choroidal melanocytic lesions found in neurofibromatosis type 1 (NF1). We report three cases with unilateral flake-shaped choroidal lesions on SLO multicolor PPI, similar to choroidal NF1 lesions, monitored their evolution and analyzed their potential nature using multimodal imaging including SLO multicolor and classical PPI, infrared autofluorescence (IRAF), spectral-domain-optical coherence tomography (SD-OCT), enhanced-depth imaging-OCT (EDI-OCT), OCT-angiography as well as fluorescein angiography, and indocyanine green angiography (ICGA)...