To report the outcomes, advantages and disadvantages of a heads-up three-dimensional (3D) visualization system compared to the conventional microscope in pediatric tractional retinal detachment (TRD) ...surgery secondary to advanced stage retinopathy of prematurity (ROP). Medical records of patients with ROP stage 4 or 5 who underwent surgery for tractional retinal detachment at King Khaled Eye Specialist Hospital between September 2017 and July 2019 were identified and reviewed. Eyes were divided into 2 groups, eyes that underwent surgery with a 3D heads-up platform (3D group) and eyes that underwent surgery with a conventional microscope (conventional group). Data were collected on neonatal history, visual acuity, intraoperative complications and success rates between groups.Eighteen eyes of 14 patients who underwent surgical repair of TRD related to ROP. Postoperative outcomes were compared between 10 eyes (7 patients) in the 3D group and 8 eyes (7 patients) in the conventional group There was no statistically significant difference in success rate between both groups (75% conventional group vs 70% 3D group). Partial or complete reattachment was achieved in 7 eyes in 3D group compared to 6 eyes in conventional group. Lower postmenstrual age at the time of the first surgery and presence of retinal breaks were associated with poorer surgical outcome. Heads up 3D visualization system is feasible in tractional retinal detachment related to ROP with similar success rate and no increased risk of complications when compared to conventional microscope. This system may be advantageous in advanced pediatric tractional retinal detachment surgeries.
To describe an infant with Adams Oliver syndrome (AOS) with ocular signs similar to familial exudative vitreoretinopathy.
A full-term female infant presented with a congenital scalp defect, ...hypoplasia of the fingers and toes along with a radial retinal fold in the right eye and tractional retinal detachment in the left eye. Fluorescein angiography findings included peripheral retinal nonperfusion, irregular vascular sprouting beyond the vascular-avascular junction, pinpoint areas of hyperfluorescence as well as late peripheral and posterior vascular leakage. The patient was clinically diagnosed with Adams Oliver syndrome based on the collective findings. Laser photocoagulation to the avascular retina was performed in both eyes which resulted in stabilization of the condition after 2 years of follow up.
The ocular phenotype in AOS may be similar to familial exudative vitreoretinopathy. Therefore, suspicion of the diagnosis should prompt ophthalmic evaluation including fluorescein angiography to detect and possibly treat the ischemic retinopathy.
Purpose
To report a case of combined central retinal vein occlusion (CRVO) with cilioretinal artery occlusion (CLRAO) that heralded the development of frosted branch angiitis (FBA).
Case report
A ...25-year-old healthy male presented with sudden painless visual loss in his left eye with a visual acuity (VA) of 20/300. Fundus exam and fluorescein angiography showed signs of combined CRVO and CLRAO. Without treatment, his vision gradually improved until it reached 20/30 within four months. Five months after initial presentation, he returned with severe visual loss (20/400) in the same eye and a clinical picture of severe occlusive periphlebitis resembling a frosted branch angiitis pattern associated with severe macular edema. This was promptly and successfully treated with systemic steroids and immunosuppressive medications.
Conclusion
CRVO in young population can have an unusual course and one should carefully rule out underlying uveitic etiologies in each visit. Clinical suspicion and close follow‑up are required for early detection and timely management of FBA.
Ocular involvement in pemphigus vulgaris (PV) is relatively rare. The conjunctiva and eyelids are considered the most common affected sites in ocular pemphigus. Scleritis is rarely reported as a ...manifestation of PV. We present a case report of anterior scleritis as a manifestation of PV and its response to rituximab therapy.
The glomerular filtration barrier (GFB) produces primary urine and is composed of a fenestrated endothelium, a glomerular basement membrane (GBM), podocytes, and a slit diaphragm. Impairment of the ...GFB leads to albuminuria and microhematuria. The GBM is generated via secreted proteins from both endothelial cells and podocytes and is supposed to majorly contribute to filtration selectivity. While genetic mutations or variations of GBM components have been recently proposed to be a common cause of glomerular diseases, pathways modifying and stabilizing the GBM remain incompletely understood. Here, we identified prolyl 3-hydroxylase 2 (P3H2) as a regulator of the GBM in an a cohort of patients with albuminuria. P3H2 hydroxylates the 3' of prolines in collagen IV subchains in the endoplasmic reticulum. Characterization of a P3h2ΔPod mouse line revealed that the absence of P3H2 protein in podocytes induced a thin basement membrane nephropathy (TBMN) phenotype with a thinner GBM than that in WT mice and the development of microhematuria and microalbuminuria over time. Mechanistically, differential quantitative proteomics of the GBM identified a significant decrease in the abundance of collagen IV subchains and their interaction partners in P3h2ΔPod mice. To our knowledge, P3H2 protein is the first identified GBM modifier, and loss or mutation of P3H2 causes TBMN and focal segmental glomerulosclerosis in mice and humans.
To report a case of initial-onset acute Vogt-Koyanagi-Harada (VKH) presenting with internal limiting membrane (ILM) folds as the initial clinical sign.
This is a retrospective case review.
A ...36-year-old woman with a recent history of periorbital injection of cosmetic filler who presented with sudden blurred vision in the right eye of a few hours duration. Initial fundus examination revealed only ILM folds in the right eye. Next day, the patient developed the full ophthalmic clinical picture of initial-onset acute VKH disease. Multimodal imaging showed features of ILM undulations and acute VKH disease. Uveitis was treated successfully with systemic corticosteroids combined with mycophenolate mofetil. The patient had complete resolution of posterior segment inflammation and exudative retinal detachment.
ILM folds/undulations can be one of the early signs in acute VKH disease, and may serve as an important early clinical clue for this diagnosis.
To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy.
Retrospective study of 10 ...children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings.
10 patients (8 females) from three families with homozygous (2) or compound heterozygous (1) variants in LEPREL1 were included. At presentation, mean age was 9.9 ± 2.6 years. Mean axial length was 28.9 ± 1.9 mm and mean refraction was -13.9 ± 2.8 diopters. Bilateral posterior subcapsular cataracts were present in eight patients (80%), with lens subluxation in five eyes of three patients (30%). Rhegmatogenous retinal detachments (RRD), associated with giant retinal tears (GRT), developed in seven eyes of five patients (50%) at a mean age of 14.14 ± 5.9 years. Six were successfully reattached with mean Snellen best-corrected visual acuity improving from 20/120 preoperatively to 20/60 at last follow-up. Urinalysis in nine patients revealed microhematuria and/or mild proteinuria in six patients (67%).
LEPREL1 -related high myopia confers a high risk of early-onset GRT-related RRD. The ocular phenotype may be confused with that of ocular Stickler syndrome if genetic testing is not performed. Further investigations into a potential association with renal dysfunction are warranted.
Purpose: To report acute photoreceptor layers loss in Behcet's disease and its anatomical recovery after treatment with systemic steroids, mycophenolate mofetil, and adalimumab.
Methods: Case report.
...Results: A 16-year-old male who presented with an acute attack of Behcet's panuveitis along with loss of the ellipsoid zone (EZ) and interdigitation zone (IZ) on optical coherence tomography (OCT). Treatment resulted in complete recovery of photoreceptors and improvement in vision.
Conclusion: Acute photoreceptor layers loss could be a manifestation of Behcet's uveitis and anatomical recovery may be achieved with aggressive and timely treatment.
: To report a patient with Pierson syndrome who presented with neovascular glaucoma (NVG) after cataract surgery.
: Retrospective case report.
: A 17-year old monocular female presented with sudden ...onset of pain and decreased vision in the right eye. On examination, she had intraocular pressure (IOP) of 50 mmHg, aggressive iris neovascularization (NVI) and 3-piece IOL. Fundus examination revealed pale disc with tessellated fundus and parapapillary atrophy. Vascular arcades were vertically stretched with avascular ischemic retina starting from the near periphery. Macula appeared thin and atrophic. An intravitreal injection of 0.05 mg/0.1 ml bevacizumab was given to the right eye followed by Ahmed glaucoma valve (AGV) implantation. Assessment of her brother revealed similar posterior segment changes. A subsequent urine analysis showed proteinuria and high albumin to creatinine ratio. Next-generation sequencing for
gene revealed a homozygous c.4573 + 1 G > A variant confirming the diagnosis of Pierson syndrome.
: This case expands our knowledge on retinal ischemia in the setting of Pierson syndrome. Close monitoring after intraocular surgery is recommended to look for the development of NVG.
BACKGROUNDAdams-Oliver syndrome (AOS) is a rare, inherited multi-systemic malformation syndrome characterized by a combination of aplasia cutis congenita and transverse terminal limb defects along ...with variable involvement of the central nervous system, eyes, and cardiovascular system. AOS can be inherited as both autosomal-dominant and recessive traits. Pathogenic variants in the DOCK6, ARHGAP31, EOGT, RBPJ, DLL4, and NOTCH1 genes have been associated with AOS. PURPOSETo report a novel homozygous variant in the DOCK6 gene associated with Adams-Oliver syndrome type 2. MATERIALS AND METHODSCase report. RESULTSWe report a case of a 4-month-old male who presented with microcephaly, global developmental delay, truncal hypotonia, and limb reduction defects. Ophthalmic examination revealed bilateral nystagmus and retinal detachment with mild cataractous changes in addition to retrolental plaque in the left eye. Next generation sequencing analysis identified a novel homozygous frameshift likely pathogenic variant (c.1269_1285dup (p.Arg429Glnfs*32)) in the DOCK6 gene. The constellation of the clinical findings and the genetic mutation were consistent with a diagnosis of AOS type 2. CONCLUSIONThe discovery of this new likely pathogenic variant enriches the genotypic spectrum of DOCK6 gene and contributes to genetic diagnosis and counseling of families with AOS. Neurologic and ocular findings appear to be consistent with AOS type 2 for which multidisciplinary clinical evaluation is crucial.
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