Case Reports in Ophthalmology最新文献

Introduction: The co-occurrence of traumatic optic neuropathy (TON) and central retinal artery occlusion (CRAO) presents a significant clinical challenge due to their complex interactions and potential for profound visual impairment. This case report details a rare instance of both conditions following blunt ocular trauma, aiming to enhance understanding of their interplay and the necessity for timely intervention.

Case report: A 45-year-old woman presented with sudden vision loss in her right eye 3 h after sustaining blunt trauma from a wood fragment while chopping firewood. Initial examination revealed no light perception (NLP) in the affected eye and a relative afferent pupillary defect. Imaging revealed hyperdensity and thickening of the posterior sclera, the intraocular and anterior intraorbital optic nerve. Despite administration of intravenous steroids and a neurosurgical consultation for TON, retinal evaluation 1 day post-trauma revealed retinal edema, pallor, multiple vascular occlusions, and a cherry-red spot, leading to a diagnosis of CRAO associated with TON. Ongoing follow-ups showed persistent NLP in the right eye.

Conclusion: This case underscores the potential for concurrent TON and CRAO following ocular trauma, leading to a complex visual outcome, while also examining the underlying mechanisms that may contribute to this phenomenon. The report highlights the need for further investigation into effective therapeutic strategies and underscores the complexities involved in managing traumatic ocular conditions. Future studies should focus on optimizing medical or surgical interventions to improve visual outcomes for patients facing this challenging combination of injuries.

Introduction: Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene on chromosome 17q11.2. The main ocular manifestations include Lisch nodules, optic pathway gliomas, and plexiform neurofibromas, all of which can potentially impair visual function. Despite the numerous documented ocular manifestations of NF1, congenital aniridia has never been previously reported. Aniridia is a rare congenital disorder primarily associated with mutations in the PAX6 gene, leading to iris hypoplasia, corneal pannus, cataracts, and glaucoma. PAX6-negative aniridia has been described in some cases, suggesting alternative genetic mechanisms. Additionally, a minority of patients with aniridia exhibit ptosis. We present a unique case of a 50-year-old woman with NF1, exhibiting bilateral congenital aniridia and ptosis, without PAX6 mutations.

Case presentation: A 50-year-old woman diagnosed with NF1 presented with bilateral congenital ptosis and aniridia. Genetic analysis confirmed the presence of the NF1 c.4537C>T variant but was negative for PAX6 mutations. Ophthalmological examination revealed total aniridia, cataract, ptosis, and pendular nystagmus. The patient underwent levator muscle resection for ptosis correction and cataract extraction with implantation of an intraocular lens with an iris prosthesis. Histopathological analysis of the levator muscle showed atrophic changes in the absence of neurofibromatous infiltration.

Conclusion: This case represents the first documented instance of bilateral congenital aniridia in a patient with NF1. The absence of PAX6 mutations suggests an alternative genetic mechanism or a novel NF1 phenotype. This highlights the importance of thorough ophthalmologic and genetic evaluation in NF1 patients, integrating a multidisciplinary approach to identify atypical phenotypic associations and ensure optimal management.

Introduction: For cases of culture-negative endophthalmitis, 16S ribosomal deoxyribonucleic acid (16S RNA) real-time polymerase chain reaction (RT-PCR) may offer greater diagnostic yield than traditional microbial cultures. Our case presents an unusual clinical course, which supports the use of 16S RNA RT-PCR, even after negative microbial cultures, to secure a pathogenic diagnosis.

Case presentation: A 49-year-old male with human immunodeficiency virus (HIV) infection presented with fever and cough, accompanied by acute bilateral vision reduction, photophobia, and eye pain. Clinically, his examination showed severe panuveitis in both eyes. Investigations showed elevated white blood cells, C-reactive protein, cluster of differentiation 4 count of 180/μL, HIV viral load of <40 copies/mL, and unexpectedly, aqueous and blood cultures were negative. An autoimmune workup was also negative. Given this, intravitreal antibiotics were administered alongside systemic antibiotics. Subsequent chest computed tomography showed pulmonary cavitations and liver lesions, and despite negative culture results, a 16S rRNA RT-PCR of the aqueous humor detected Klebsiella pneumoniae genetic material. The patient completed 6 weeks of ceftriaxone and multiple bilateral vitrectomies for recurrent retinal detachments, likely due to retinal necrosis.

Conclusion: Clinicians may consider alternative etiologies after a negative microbial culture. This teaching case supports the use of 16S RT-PCR to more rigorously rule out infectious causes of panuveitis, especially in immunocompromised patients, to avoid premature consideration of other differential diagnoses.

Introduction: Myasthenia gravis (MG) is an autoimmune disorder causing muscle weakness. When diagnosed before 18, it is termed juvenile MG. Ocular symptoms are more common in children than adults. Diagnosis of ocular MG involves tests like the ice pack test, while treatment includes cholinesterase inhibitors and corticosteroids.

Case presentation: We present a case of a 3-year-old girl who had a 2-month history of progressive weakness of both eyelids, but no other body weakness reported. She was diagnosed with ocular MG after a positive ice pack test and detection of autoantibodies against acetylcholine receptors. She was started on pyridostigmine and later added cyclosporine, and her symptoms improved greatly afterward.

Conclusion: Ocular MG is rare. This case report highlights the challenges of diagnosing and managing ocular MG in low-resource settings, stressing the need for early recognition and treatment.

Introduction: The purpose of this report was to highlight the clinical phenotype and imaging findings in a patient with an exclusively macular phenotype of non-syndromic MFSD8-related disease and to provide clinical evidence for pathogenicity reclassification of a variant of uncertain significance MFSD8 c.291G>C (p.Trp97Cys).

Case presentation: A 47-year-old male with progressive vision loss exhibited symptoms indicative of maculopathy. These included decreased central vision, visual distortions, photophobia, poor depth perception, glare, impaired dark/light adaptation, difficulty reading, depressed multifocal ERG responses, and central ellipsoid dropout on SD-OCT. Evaluation included genetic testing, segregation analysis, and a complete ophthalmic examination, including slit-lamp exam, dilated fundus exam, FAF, SD-OCT, ERG, and Humphrey 24-2 visual fields. A 351 gene retinal dystrophy panel revealed two variants in MFSD8, including one pathogenic variant (c.1006G>C, p.Glu336Gln) and one likely pathogenic variant (c.291G>C, p.Trp97Cys), confirmed to be in trans via segregation testing.

Conclusion: This case underscores the importance of genetic testing in confirming variant inheritance and describes the clinical phenotype associated with MFSD8 c.291G>C (p.Trp97Cys). The variant contributes to a pathological non-syndromic phenotype when in trans with a pathogenic variant. Given the syndromic variants of MFSD8, patients with this specific variant in the homozygous or compound heterozygous state should be closely monitored for clinical manifestations associated with this condition. Genetic counseling should be recommended for affected individuals and their close relatives to provide informed guidance regarding prognosis, reproductive risks, and available support resources.

Introduction: Cushing's syndrome results from excessive exposure to exogenous or endogenous steroid, while cushing's disease is hypercortisolism from an adrenocorticotropic hormone-secreting pituitary adenoma. Secondary ocular hypertension (OHT) accompanied by exophthalmos as the initial presentation of endogenous Cushing's syndrome has rarely been reported.

Case presentation: A 46-year-old Thai woman was referred for OHT treatment despite maximum tolerance to medication. Intraocular pressure (IOP) was 21 mm Hg (right eye) and 25 mm Hg (left eye). Visual acuity was 20/20 in both eyes. Bilateral eyelids were swollen without any palpable masses. Exophthalmometer measurements were 24 mm (right eye) and 23 mm (left eye). Extraocular muscle movements, anterior segment, gonioscopy, and dilated fundoscopic exams were normal bilaterally. Optic nerve head was unremarkable in both eyes. Optical coherence tomography showed marginal inferior thinning of the retinal nerve fiber layer and ganglion cell layer in left eye. Computerized visual field 24-2 was normal bilaterally. She was diagnosed with secondary OHT with exophthalmos in both eyes. Thyroid function and thyroid antibody tests were unremarkable. Orbital and brain computed tomography revealed exophthalmos with an increase of retrobulbar fat bilaterally and a hypodense pituitary lesion. She was diagnosed with Cushing's disease and underwent endoscopic transsphenoidal adenectomy. At 6-month postoperatively, IOP decreased to 16 mm Hg (right eye) and 17 mm Hg (left eye), without any IOP-lowering medications. Exophthalmos also improved as exophthalmometer measurements were 20 mm (right eye) and 19 mm (left eye).

Conclusions: Endogenous Cushing's syndrome should be included in the differential diagnosis of secondary OHT with exophthalmos.

Introduction: The aim of the study was to investigate the ophthalmic manifestations and management of a series of patients with monkeypox-related keratitis.

Case presentation: Two cases diagnosed with monkeypox-related keratitis were reviewed. The first case was for a young lady who presented to the emergency room with ring shape infiltration after a history of body rash. While the second case was for a child who presented to the emergency room with a picture of viral conjunctivitis along with body rash; then, he developed ring-shaped corneal infiltrate. Both patients were diagnosed through viral PCR and treated successfully with antiviral therapy.

Conclusion: Monkeypox-related keratitis is a rare but potentially sight-threatening complication of monkeypox infection. Early recognition and appropriate management are essential in order to minimize the risk of permanent vision loss.

Introduction: This case presents the development of severe fungal keratitis sourced from a green tea bag used as an ocular warm compress.

Case presentation: A 29-year-old healthy patient developed a deep stromal fungal keratitis in his left eye 2 weeks after utilizing a green tea bag as a warm compress to improve meibomian gland dysfunction that ruptured over his eye. Treatment of infection included topical and intrastromal injections of voriconazole. Topical treatment was maintained after hospital discharge for 10 months. Follow-ups were continued until the complete resolution of active infection. Final corrected visual acuity was 0.7 (LogMAR, 0.3 pinhole), and there was residual corneal scarring.

Conclusion: Warm compresses are a first-line treatment for meibomian gland disorders. Although application of warm tea bags over the eyelids appears to be an economical and accessible option, this method should be carefully considered due to the risk of fungal keratitis development.

Introduction: Placental-derived amniotic membranes (AM) can be used for both macular holes (MHs) and corneal defects. Here, we present a short report of a recurrent full thickness MH treated with a folded AM graft.

Case presentation: Best corrected visual acuity improved from 35 letters after MH recurrence to 55 letters after second surgery. Despite the folding and the large size of the AM, optical coherence tomography confirmed the closure of the MH without significant symptom.

Conclusion: This report presents the results of the use of a large folded AM, which showed favourable results in terms of visual acuity improvement and successful MH closure, with no adverse effects observed.

Introduction: Transient sixth cranial (abducens) nerve palsy is uncommon, especially in children, in whom it can herald serious underlying pathology. Sixth nerve palsy has been reported after spinal anesthesia and lumbar puncture and, in very rare cases, after complicated general anesthesia or ocular muscle procedures. Acute strabismus in children is always a concerning occurrence for both parents and clinicians, so an accurate record of documented etiologies is essential to guide appropriate management and to reassure the parents.

Case presentation: Here we report the first case of transient unilateral sixth nerve palsy following general anesthesia for a non-ocular surgical procedure (adenoidectomy) in a 5-year-old child. Ocular motility assessment confirmed right-sided abducens nerve palsy and MRI excluded underlying pathology. The right eye movement gradually improved over the following 2 weeks and the child made a full recovery.

Conclusion: Given the favorable prognosis, watchful waiting is an appropriate management strategy provided that the more common sinister causes of sixth nerve palsy have been carefully excluded.