Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.

PURPOSE: To describe the ocular and renal features, as well as outcomes of retinal detachment repair, in patients with a novel, homozygous laminin ß-2 (LAMB2) pathogenic variant. DESIGN: Single-center retrospective chart review of patients with a homozygous variant, c.619T>C p.(Ser207Pro), in the LAMB2 gene. SUBJECTS: Eleven patients (22 eyes) from 4 families. METHODS: Demographic data and ocular findings were recorded. Patients were recalled for a detailed renal evaluation. MAIN OUTCOME MEASURES: Ocular features, renal features, and outcomes of retinal detachment repair. RESULTS: The mean age at presentation was 6.0 (range, 1-26) years. None of the study eyes had microcoria, and none of the patients had nephrotic-range proteinuria. The mean refraction and axial length were -7.9 diopters (range, -4.0 to -12.0 diopters) and 25.3 (range, 22.7-27.7) mm, respectively. Eleven eyes (50%) had cataract at presentation. Fifteen eyes had a clear view to the fundus and all showed tessellated myopic fundus, avascular peripheral retina evident clinically or on fluorescein angiography, and rudimentary fovea. Optic disc pallor was observed in 10 eyes (66.7%). Straightened retinal vessels, abnormal vascular emanation (situs inversus) from the optic disc, supernumerary vascular branching at the optic disc, and vascular tortuosity were observed in 10 (66.7%), 2 (13.4%), 2 (13.4%), and 2 (13.4%) eyes, respectively. Discrete areas of punched-out chorioretinal atrophy were observed in 4 (26.7%) eyes. Spectral-domain OCT showed retinal and choroidal thinning in 13 eyes (86.7%), retinoschisis temporal to the fovea in 2 eyes (13.4%), and rudimentary fovea in 15 eyes (100%). Among the 22 eyes, 14 eyes (63.6%) developed rhegmatogenous retinal detachment (RRD), mostly during childhood, of which 5 patients had bilateral RRD. Eight eyes were operated on and 6 (75%) achieved retinal reattachment at the last follow-up. The mean preoperative visual acuity was 20/300 and the mean postoperative visual acuity at the last follow-up was 20/400. CONCLUSIONS: This study describes a distinct phenotype of LAMB2-related disease with a novel, homozygous LAMB2 variant, and further expands the spectrum of ophthalmic and renal features, and the molecular genetic basis, of LAMB2-related disease. Because the typical microcoria and nephrotic-range proteinuria might be absent, the retinal features can guide the diagnosis. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.

Awareness, Knowledge, and Attitude Towards Urinary Tract Infections: An Appraisal From Saudi Arabia.

Introduction Urinary tract infections (UTIs) are a common global health issue, yet awareness and knowledge about UTIs among the general population can vary widely. This study aimed to assess the awareness, knowledge, and attitudes regarding UTIs among Saudi Arabian citizens residing in Al-Ahsa, Saudi Arabia. Methods A descriptive cross-sectional study was conducted among Saudi Arabian citizens aged 18 and above residing in Alhassa. A structured questionnaire was used to collect data on participants' awareness, knowledge, attitudes, and experiences related to UTIs. Data were analyzed using IBM® SPSS® Statistics. Results The study included 445 participants, predominantly males, with 279 (62.7%) and a range of educational backgrounds. Approximately 302 (70.1%) of the participants were aware of UTIs. However, misconceptions about the definition of UTI and its risk factors were common. Most participants recognized bacteria as the primary cause of UTIs, with 261 (58.7%) identifying this factor. Symptoms such as painful urination were recognized by 390 participants, which is a significant proportion. When experiencing UTI symptoms, 285 (66.1%) indicated they would go to the hospital. Significant associations were found between awareness, knowledge, and socio-demographic factors. Conclusion This study highlights the need for increased awareness and knowledge about UTIs among Saudi Arabian citizens in Alhassa. Tailored educational interventions are essential to correct misconceptions, promote accurate risk factor awareness, and encourage appropriate management strategies. Public health campaigns can contribute to reducing the burden of UTIs in the community.

Olfactory Neuroblastoma: An Unusual Ocular Presentation.

We report a case of 51-year-old medically healthy male who presented with gradual painless diminution of vision in both eyes for 3 months. His visual acuity was hand movement perception in the right eye, and no light perception in the left eye. The intraocular pressure, external eye examination, ocular motility and anterior segment examinations were normal. Fundus examination revealed severe bilateral papilloedema and engorged tortuous veins in both eyes. Imaging exhibited a large intracranial tumour causing raised intracranial pressure. This was debulked by neurosurgery and histological examination revealed that the tumour was an olfactory neuroblastoma (ONB). This case is noteworthy since ONBs rarely present with isolated papilloedema without any accompanying ophthalmoplegia, proptosis, epistaxis, nasal, or neurological symptoms.

Granulomatous panuveitis associated with Hodgkin lymphoma: A case report with review of the literature.

BACKGROUND: Intraocular lymphoma (IOL) is an uncommon ophthalmic malignancy and poses a diagnostic challenge. Uveitis associated with systemic lymphoma (USL) has been predominantly attributed to non-Hodgkin lymphoma (NHL) and rarely reported with Hodgkin lymphoma (HL) in the literature. METHODS: Case report with review of the literature. RESULTS: A 25-year-old healthy male presented with bilateral granulomatous panuveitis including vasculitis and discrete chorioretinal yellowish-white lesions. Macular optical coherence tomography (OCT) of both eyes revealed a disruption of ellipsoid and interdigitation zones over the areas of subretinal lesions as well as a small sub-retinal pigment epithelium (RPE) deposit in one eye. Thorough uveitis workup revealed clavicular, axillary and cervical lymphadenopathy, and biopsy of lymph nodes confirmed the diagnosis of nodular lymphocyte-predominant (NLP) HL. Six months later and after receiving chemotherapy, all symptoms and most of clinical signs resolved. CONCLUSIONS: Clinical features of USL do not differ between HL and NHL. However, the age of presentation may be much younger in HL. Ocular manifestations can precede systemic HL diagnosis, as shown in our patient. Therefore, USL should be part of the differential diagnosis of panuveitis. Paraneoplastic inflammation is thought be the cause of uveitis associated with HL. The sub-RPE deposit and disruption of ellipsoid and interdigitation zones on OCT have not been documented before as a manifestation of uveitis secondary to HL. In addition, the NLP subtype of HL was reported in only 1 case with uveitis in the literature.

Aflibercept versus Ranibizumab as a Second Line Therapy After Bevacizumab for Diabetic Macular Edema.

PURPOSE: To compare the visual and anatomic outcomes of aflibercept versus ranibizumab as a second line treatment for persistent diabetic macular edema (DME) after initial bevacizumab injections. METHODS: In this retrospective cohort study, patients with center-involved DME of ≥ 300 µm thickness after bevacizumab intravitreal injections in 2015-2019 were included. Those treated with ranibizumab (R) and aflibercept (A) were grouped as group R and group A, respectively. The change in central macular thickness (CMT) measured by optical coherence tomography (OCT) and the best corrected distance visual acuity (BCVA) before and after three-monthly anti-VEGF injections (anti-VEGF) in group R and group A were compared and reviewed. RESULTS: There were 80 eyes of 75 patients in group R and 80 eyes of 72 patients in group A. The initial bevacizumab injections in group R and group A varied significantly (p = 0.01). The median change of the CMT after the three injections was not significantly different in group R (80 µm) and group A (81.5µm) (p = 0.7). The improvement of BCVA in group R and group A was not significant (p = 0.5). Dry macula was noted in 1 vs 14 eyes in group R vs group A. CONCLUSION: After treating refractory DME with initial bevacizumab injections, 3 injections of either aflibercept or ranibizumab had similar anatomic and functional outcomes. Aflibercept achieved dry macula in more eyes with refractory DME compared to ranibizumab.

Iris Melanocytoma in a Child: Clinical and Histopathological Findings.

BACKGROUND Melanocytoma is rare and can affect any part of the uveal tract. In rare cases, iris melanocytoma shows signs of growth, with extrascleral extension that mimics melanoma. This phenomenon makes clinical differentiation between the 2 pathologies particularly challenging. CASE REPORT A 3-year-old boy presented with recurrent ocular inflammation. Examination revealed a large, solid, homogenous mass in the inferior quadrants of the iris, with secondary localized corneal edema. The lesion did not extend to the ciliary body and fundus examination showed no lesions in the posterior segment, including the head of the optic nerve. The patient underwent a sectoral iridocyclectomy and excisional biopsy of the lesion in the iris. Histopathology of the lesion confirmed the diagnosis of iris melanocytoma. CONCLUSIONS The differential diagnosis for a mass in the iris is broad, ranging from benign cysts to melanoma, which is a life-threatening ocular condition. An iris melanocytoma always should be considered in the differential of these masses, despite their exceedingly low incidence. Although iris melanocytoma mainly manifests in patients who are middle-aged or older, it should be suspected in young children, as underscored by the present report.

A Case of Implantable Collamer Lens (ICL) with Reverse Orientation for 10 Years.

BACKGROUND: Implantable collamer lens (ICL) might rarely cause complications that warrant explantation. Here, we presented a case of inverted ICL that has undergone explantation after a 10-year duration. Case Presentation. A 49-year-old male with past ocular history of ICL implantation 10 years ago presented complaining of progressive decrease of visual acuity in the left eye for a long time. On examination, decreased visual acuity, anterior subcapsular cataract, and low ICL vault were noted. The anterior segment optical coherence tomography (AS OCT) showed inverted ICL. The ICL was explanted, and cataract surgery was done. CONCLUSION: Inverted ICL should be kept in mind as a rare cause of long-term poor visual acuity in patient with a history of ICL surgery.

Pars Plana Vitrectomy vs Combined Pars Plana Vitrectomy-Scleral Buckle for Primary Repair of Pediatrics Retinal Detachment.

PURPOSE: To evaluate the outcome of pars plana vitrectomy (PPV) and combined pars plana vitrectomy with scleral buckle (PPV-SB) in the primary pediatrics rhegmatogenous retinal detachment repair. DESIGN: A retrospective cohort study. METHODS: A retrospective study was conducted in patients under 18 years of age, who presented with rhegmatogenous retinal detachment at King Khaled Eye Specialist Hospital between January 2014 and October 2018. Primary measurable outcomes were single surgery success rate (SSSR) and rate of postoperative complications. RESULTS: A total of 122 eyes of 117 patients were included in the study; 80 eyes in PPV group and 42 eyes in PPV-SB group. Mean follow-up period after surgery was 18.2 months ±11 months. SSSR was 76.3% (n=61) and 66.7% (n=28) for PPV and PPV-SB, respectively. No statistically significant difference was found between the two methods of RRD repair in single surgery success rate with an OR of 1.3 (P=0.45). Complication rates were comparable in both groups in the last follow-up. CONCLUSION: In this series, PPV and PPV-SB have comparable results in regard to anatomical success and rate of postoperative complications. More complicated cases were selected to undergo PPV-SB upon surgeons' preference.

The Effect of Perioperative Uveitis Control on the Success of Glaucoma Surgery in Uveitic Glaucoma.

PURPOSE: To study the effects of perioperative uveitis control (PUC) on postoperative intraocular pressure (IOP) and uveitis activity in uveitic glaucoma (UG) patients who required glaucoma surgeries. PATIENTS AND METHODS: A retrospective chart review of 109 patients (120 eyes) which had glaucoma surgery for UG. A total of 66 eyes which had PUC were compared to 54 eyes which did not have. Measurements of IOP and uveitis activity were recorded preoperatively and over 2 years postoperatively. Average number of antiglaucoma medications and frequency of surgical failure were obtained in both groups. RESULTS: Over 2 years postoperatively, average IOP was lower in eyes which had PUC. Significant differences in IOP were found at 3 months (P = 0.004), 6 months (P = 0.001), 1 year (P < 0.001), and 2 years (P < 0.001). Lower grades of anterior chamber (AC) inflammation were found in eyes which had PUC. Significant differences were found at 1 month (P < 0.001), 3 months (P < 0.001) and 6 months (P = 0.001). Mean number of antiglaucoma medications at last visit was 0.7 ± 1.1 for eyes which had PUC and 2.6 ± 1.5 for eyes which did not have PUC (P < 0.001). Among eyes which had PUC, only two eyes required second glaucoma surgeries, while 16 eyes with no PUC required further glaucoma surgeries after 27.7 ± 12.5 months (P < 0.001). CONCLUSION: Proper PUC in patients going for UG surgeries results in lower IOP levels and less AC inflammation over 2 years postoperatively. A comprehensive PUC regimen is needed for uveitic glaucoma patients going for surgeries.

Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa.

Background: Coats-like retinal vasculopathy in retinitis pigmentosa (RP) is rare. This study describes its clinical spectrum, management outcomes and genetic associations in patients with autosomal recessive RP (arRP).Materials and methods: Retrospective review of ophthalmic, multimodal imaging, genetic findings and treatment outcomes of arRP patients who developed Coats-like features. Identification of patients included searching a retinal dystrophy registry of 798 patients.Results: Ten eyes of six patients with arRP (4 males, 2 females, mean age 33 years) demonstrated Coats-like features, namely inferotemporal peripheral retinal telangiectasis combined with unilateral inferotemporal vasoproliferative tumor (VPT) in 4 eyes. Exudative retinal detachment (ERD) developed in five eyes of which four had VPT. Ablation of the vasculopathy using retinal laser photocoagulation and/or cryotherapy in eight eyes, allowed ERD and/or lipid exudation to decrease in seven eyes despite incomplete vasculopathy regression. Additional intravitreal triamcinolone acetonide injection in one eye failed to regress the ERD and associated VPT. Observation in one eye caused increased exudation. Six mutations, including three novel mutations, were found in CRB1, CNGB1, RPGR, and TULP1.Conclusions: Coats-like features in arRP range from retinal telangiectasis to VPTs with extensive ERD and occur predominantly in the inferotemporal retinal periphery. In addition to their classic association with CRB1 mutations, other genes are implicated. To the best of our knowledge, this is the first report describing CNGB1 mutations in Coats-like RP. Awareness of the vasculopathy spectrum is important, and timely ablation of the vasculopathy with long-term monitoring is recommended to prevent additional visual loss in RP patients.

Retinal Vasoproliferative Tumor in Ocular Albinism.

BACKGROUND Retinal vasoproliferative tumor (VPT) is a type of ocular vascular tumor that commonly occurs idiopathically and can be associated with secondary ocular diseases. Ocular albinism is an X-linked inherited disease and distinguished from oculocutaneous albinism by less hair and skin involvement. CASE REPORT A 42-year-old man with ocular albinism and moderate myopia presented with a history of insidious decrease in vision in both eyes over a period of months. On examination, the horizontal pendular nystagmus was present and diffuse iris transillumination defects were observed bilaterally. A fundus examination revealed a depigmented fundus with visible choroidal vessels, foveal hypoplasia, and a unilateral, elevated, vascular lesion in the superotemporal aspect of the retinal periphery. Optical coherence tomography of the lesion confirmed the retinal location and fluorescein fundus angiography indicated its vascular nature. B-scan ultrasonography was performed to measure the dimensions of the lesion. CONCLUSIONS Rare retinal VPT has been reported with systemic and ocular associations, but it has never been reported in the literature in association with ocular albinism. Multiple treatment modalities have been described for the tumor, but observation can be considered in the absence of secondary consequences of the VPT. Retinal VPT should be included in the differential diagnosis of any retinal vascular abnormalities in patients with ocular albinism.

Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.

PURPOSE: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. OBSERVATIONS: Six siblings, age range 50-75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing.In four affected siblings, two novel compound heterozygous variants in CNGB1 were detected: in exon 26 the missense variant c.2603G > A (p.(Gly868Asp)), and in exon 21, the in-frame 12-bp duplication c.2093_2104dupGCGACCTCATCT (p.(Cys698_lle701dup)). One sibling was unaffected and carried neither of the variants, while another sibling had mild macular degeneration changes and carried the latter variant in heterozygous status. The affected siblings presented with a phenotype showing markedly constricted visual field, flat scotopic and photopic electroretinogram responses and generalized retinal atrophy. CONCLUSIONS AND IMPORTANCE: This is the first report of a 12bp in-frame duplication and a missense variant (in compound heterozygous status) in CNGB1, being associated with a severe form of retinitis pigmentosa featuring extensive peripheral and central retinal degeneration. This study expands the molecular genetic basis of CNGB1-related disease.

Phakic intraocular lens implantation for the correction of hyperopia.

The prevalence of myopia is much higher than hyperopia. Hence, there are relatively few studies investigating phakic intraocular lens (pIOL) implantation for the correction of hyperopia. This review aimed to summarize the available relevant literature on the efficacy and safety of pIOL implantation for the correction of hyperopia and hyperopic astigmatism. At present, two types of pIOLs are used to correct hyperopia and hyperopic astigmatism: anterior chamber iris-fixated pIOLs and posterior chamber implantable collamer lenses. Both have been found to be safe and effective. No serious events (eg, retinal or choroidal detachment, endophthalmitis) were reported in the reviewed articles. Implantation of pIOLs might be the optimal refractive surgery for the correction of high hyperopia.

Corneal deposits following topical moxifloxacin use.

Corneal deposits have been reported with numerous topical medications including fluoroquinolones. However, they have not been documented as a side effect of topical moxifloxacin. In this report, we describe the first case of corneal deposits following the use of preservative-free topical moxifloxacin 0.5% eye drops in a 26-year-old male with keratoconus who underwent a unilateral corneal cross-linking. Increased frequency and prolonged instillation of moxifloxacin eye drops led to corneal precipitation in this patient. Complete resolution of corneal deposits occurred four months after drug discontinuation without sequelae.

Marcus Gunn Jaw-Winking Syndrome Associated with Morning Glory Disc Anomaly.

Marcus Gunn jaw-winking syndrome (MGJWS) is a rare form of congenital blepharoptosis and one of the congenital cranial dysinnervation disorders (CCDD). In addition, morning glory disc anomaly (MGDA) is a congenital optic disc anomaly of unknown etiology. The present report is the first to describe an association between MGJWS and MGDA in an otherwise healthy 7-year-old boy. He also had counting finger vision, anisometropia, esotropia, and monocular elevation deficiency in the same eye. In the literature, both MGJWS and MGDA have been reported to be associated with Duane retraction syndrome, a form of CCDD.

Variable Presentations of Peripheral Exudative Hemorrhagic Chorioretinopathy.

Three cases of peripheral exudative hemorrhagic chorioretinopathy (PEHCR), which mimicked other retinal pathologies, were reported. Different preliminary diagnoses were made initially, but thorough examination combined with the appropriate investigations led to the final diagnosis of PEHCR. Despite the rare occurrence of PEHCR, it must be included in the differential diagnosis for peripheral retinal diseases.

Glaucoma With Crouzon Syndrome.

BACKGROUND: Crouzon syndrome is the most common form of craniosynostosis, and mutations in the fibroblast growth factor receptor 2 and 3 (FGFR2 and FGFR3) genes are implicated in its pathogenesis. OBSERVATION: A 10-year-old female patient with Crouzon syndrome and congenital glaucoma treated with trabeculectomy and ocular hypotensive medications was examined. The patient had proptosis, exposure keratopathy, megalocornea, thin central corneal thickness, a shallow anterior chamber, mild anterior subcapsular cataract, and a cup-to-disc ratio of 0.9. Ultrasound biomicroscopy revealed a shallow anterior chamber, posterior synechiae, and closed angle in the right eye, as well as a narrow angle in the left eye, despite an axial length of 28.9 mm in the right eye and 30.0 mm in the left eye, measured by A-scan ultrasound biometry. The crystalline lens thickness measured by ultrasound biomicroscopy was 4.18 mm in the right eye and 4.12 mm in the left eye. CONCLUSIONS AND IMPORTANCE: Despite long axial lengths, shallow anterior chambers with occluded angles are possible in Crouzon syndrome and are most likely caused by FGFR2-related anterior segment dysgenesis. To the best of our knowledge, this is the first report that describes closed angles and anterior segment dysgenesis as a secondary cause of congenital glaucoma in Crouzon syndrome.

Prevalence and Risk Factors of Dry Eye Symptoms in a Saudi Arabian Population.

BACKGROUND: The information about dry eye epidemiology in Saudi Arabia is few in literature. PURPOSE: To estimate the prevalence and identify determinants of dry eye symptoms (DES) in Al-Ahsa, Saudi Arabia. METHODS: Using a multi-stage proportionate sampling technique, Saudis of both genders from 6 urban and 4 rural Primary Health Care centers in Al-Ahsa were enrolled. They were interviewed to gather data on sociodemography, symptoms of dry eye, factors potentially related to dry eye, and chronic comorbidities. If one or more of DESs present often or constantly, we labeled the person with DES. RESULTS: We examined 1858 Saudi adults with mean age of 39.3 ± 14.1 years. The age-adjusted prevalence of DES was 32.1% (95% confidence interval [CI] = 30.0-34.3). Multivariate logistic regression analysis showed that female gender (adjusted odds ratio [aOR] = 2.1, 95% CI = 1.7-2.6), older age (>56 years; aOR = 1.5, 95% CI = 1.0-2.1), current smoking (aOR = 1.4, 95% CI = 1.1-1.8) and history of diabetes mellitus (aOR = 1.5, 95% CI = 1.2-2.0) were significantly associated with DES. Nonsignificant variables included residence (urban/rural); work status; wearing contact lenses; multivitamin use; caffeine use; history of trachoma, hypertension, bronchial asthma, coronary artery disease, thyroid disease, arthritis, hemolytic blood diseases (sickle cell-thalassemia), gout, and osteoporosis. CONCLUSION: DES are highly prevalent among the adult population of Al-Ahsa. Females, persons more than 55 years of age, smokers and diabetics were associated to DES.