Case Reports in Ophthalmology最新文献

Introduction: Intraocular masses in children may present diagnostic dilemmas when clinical examination and imaging are insufficient to diagnose or exclude retinoblastoma. Furthermore, direct biopsy is contraindicated because of the risk of tumor seeding in retinoblastoma. Recent research has shown that aqueous humor biopsy is a safe method of obtaining cell-free DNA which can be used to diagnose retinoblastoma with high sensitivity and specificity, which provides a significant benefit in cases when the diagnosis is otherwise unclear.

Case presentation: An 11-month-old female presented with poor visual behavior since birth and an intraocular mass in the left eye. Examination under anesthesia revealed a detached retina rolled into a stalk attached to the optic nerve in the right eye and a white retrolental mass with perfused vessels in the left eye. Magnetic resonance imaging demonstrated a heterogeneous mass filling the left globe with diffusion restriction and contract enhancement. Aqueous humor liquid biopsy was performed in both eyes with low DNA yield and no mutations associated with retinoblastoma were identified. The patient was observed with no interval change in examination for 6 months.

Conclusion: Aqueous humor liquid biopsy can be used to exclude a diagnosis of retinoblastoma in cases of pediatric intraocular mass with uncertain diagnosis.

Introduction: This report describes a case of late onset subretinal silicone oil migration in an eye with congenital optic disc coloboma and its treatment.

Case presentation: A 15-year-old male with a history of left eye congenital optic disc coloboma and amblyopia presented with a third recurrence of retinal detachment (RD) with proliferative vitreoretinopathy. The patient underwent PPV, subretinal fluid drainage through a peripheral retinotomy, silicone oil tamponade, and endolaser around the coloboma and retinotomy. The retina re-attached successfully. However, 14 months postoperatively examination revealed high intraocular pressure (IOP) of 33 mm Hg and a sub-macular bubble of silicone oil was evident. The patient underwent sub-macular silicone oil removal.

Conclusion: Here we describe the unique late-onset subretinal migration of intravitreal silicone oil following RD repair in an eye with optic disc coloboma in association with raised IOP. This case demonstrates potential mechanisms of subretinal silicone oil migration through the coloboma that serves as a passage and an increased IOP, which drives the oil from the vitreous to the subretinal space.

Introduction: Behçet's disease (BD) is a rare, chronic multisystem disorder characterized by occlusive vasculitis, which can present with a variety of systemic and ocular manifestations. The diagnosis of BD is often challenging, particularly in populations with low prevalence. Retinal vasculitis and stroke can be key indicators, and the early involvement of a multidisciplinary team is essential for accurate diagnosis and management to prevent long-term complications.

Case presentation: A 40-year-old African American female presented with vision changes in her left eye and a history of multiple strokes. Examination revealed retinal ischemia and vasculitis, raising suspicion of an underlying systemic condition. Extensive workup for infectious and inflammatory causes was negative. As her condition progressed, the patient developed genital ulcers, prompting further investigation. A biopsy of the genital ulcer confirmed BD, and a multidisciplinary approach involving ophthalmology, rheumatology, and neurology was initiated. The patient was treated with high-dose corticosteroids, immunosuppressive therapy, and intravitreal corticosteroids, leading to stabilization of her ocular and systemic symptoms. Despite her history of stroke, the collaboration between specialties facilitated better management of her condition and prevention of further complications.

Conclusion: It is crucial to include BD as a potential diagnosis in cases of ophthalmic or systemic vasculitis, even in regions and populations with low prevalence. Early referral to a rheumatologist for cases of vasculitis and timely collaboration are essential for accurate diagnosis, prevention of systemic complications, and appropriate management.

Introduction: Intracanalicular vascular malformations are rare. This report describes a case of compressive optic neuropathy secondary to an intracanalicular venous malformation managed with endoscopic transsphenoidal optic canal decompression.

Case presentation: A 43-year-old female presented with an 18-month history of painless vision loss secondary to an intracanalicular venous malformation causing compressive optic neuropathy. Ophthalmic examination showed reduced visual acuity and color vision, relative afferent pupillary defect, and optic disc pallor. Imaging findings were consistent with a slow-flow vascular malformation. An endoscopic transsphenoidal optic canal decompression was performed. The lesion was found to be wrapping around the optic nerve. At follow-up after 1 year, visual acuity had improved along with restoration of full color vision and visual fields.

Conclusion: This case highlights the successful use of endoscopic transsphenoidal optic canal decompression to treat compressive optic neuropathy caused by an intracanalicular venous malformation.

Introduction: Cholesterolosis bulbi is an ocular condition characterized by the accumulation of cholesterol crystals in the vitreous cavity. This case describes the development of anterior chamber cholesterolosis bulbi secondary to retinal capillary hemangioma.

Case presentation: A 26-year-old female, tested negative for von Hippel-Lindau (VHL) syndrome, presented with yellow shinny crystals filling the anterior chamber of the left eye and similar depositions filling the vitreous cavity along with reactivated hemangioma with new feeder vessels. She was diagnosed previously with bilateral capillary retinal hemangiomas. Anterior chamber and vitreous washout and endo-laser photocoagulation for the hemangioma were performed. Analysis of the aqueous sample revealed numerous well-demarcated, rectangular, or polygonal lipid-like crystals on light microscopy. Cholesterolosis bulbi secondary to retinal capillary hemangioma was established.

Conclusions: Cholesterolosis bulbi secondary to retinal capillary hemangioma is a rare association and would warrant for extensive tumor or associated complications.

Introduction: In this case report, we present 2 cases of sudden-onset anisocoria caused by accidental exposure to scopolamine in 2 young female patients.

Case presentation: Two patients presented with unilateral anisocoria. One patient experienced unilateral mydriasis accompanied by neurological symptoms from a transdermal scopolamine patch, while the other, exposed to powdered scopolamine, presented with unilateral mydriasis without additional neurological symptoms. Both cases showed gradual resolution of symptoms over several days without intervention. Initially, Adie's pupil (tonic pupil) was high in the differential diagnosis, but a comprehensive history taking revealed scopolamine exposure as the more likely cause. In the first case, pilocarpine did not result in miosis, while in the second case, pilocarpine initially induced miosis but was followed by a return to mydriasis. Although current literature suggests that mydriasis caused by an anticholinergic substance presents as pupil dilation unresponsive to pilocarpine, our case series shows its inconsistency in clinical presentation.

Conclusion: This report presents 1 case of systemic scopolamine toxicity, alongside unilateral mydriasis, adding confusion to the case given the expected bilateral mydriasis in systemic toxicity, and another case of pharmacological anisocoria secondary to exposure to scopolamine with an atypical reaction to pilocarpine. These cases highlight the importance of thorough history taking and the need to consider pharmacological causes in the differential diagnosis of acute anisocoria.

Introduction: Thiel-Behnke corneal dystrophy is a rare inherited condition characterized by symmetrical subepithelial corneal opacities that gradually reduce vision. It is an autosomal dominant inherited epithelial stromal TGFB1 dystrophy that mainly causes visual impairment.

Case presentation: This case report describes case of a woman in her early 50s with progressive vision loss in her left eye over the past 3 months with a history of recurrent corneal erosions in childhood. Examination on a slit lamp showed corneal dystrophy affecting both eyes, matching the features of Thiel-Behnke dystrophy. Diagnosis was confirmed with anterior segment-optical coherence tomography, revealing a distinctive sawtooth pattern in Bowman's layer. The patient was managed conservatively for her dystrophy and was also surgically treated for her cataract in the left eye, which showed a significant improvement in her vision.

Conclusion: Despite its rarity, Thiel-Behnke dystrophy along with cataract can severely impair vision, making early diagnosis and continuous monitoring crucial for preventing further visual decline.

Introduction: This is a rare case of Mycobacterium chelonae keratitis following keratorefractive lenticule extraction (KLEX).

Case presentation: A 35-year-old female presented to the emergency eye clinic with 4 days of eye pain and decreased vision following KLEX surgery. She was using topical tobramycin drops four times per day, which was changed to ciprofloxacin drops. Following initial improvement, the eye deteriorated with further stromal infiltrates. A corneal culture identified M. chelonae. The keratitis required extensive topical and systemic medications, repeat scrapes, and an amniotic membrane over several weeks to reach quiescence. Vision deteriorated to hand movements, but an emergency keratoplasty was avoided.

Conclusion: This is the third reported case serving to highlight the diagnostic and treatment challenges associated with postoperative keratitis involving nontuberculous mycobacteria.

Introduction: The intraflagellar transport (IFT) complex plays a key role in protein transport and turnover within photoreceptors. IFT140 and IFT172 gene mutations have been associated with skeletal ciliopathies that occur concurrently with retinal dystrophy. These mutations have also been associated with non-syndromic retinal dystrophies. This phenotypic heterogeneity can make diagnosis challenging. Here, we report novel variants in IFT140 and IFT172 genes in 3 patients with similar retinal dystrophy phenotypes.

Case presentations: Two siblings (a 51-year-old male and 46-year-old male) who presented with a similar retinal dystrophy, skeletal abnormalities, and kidney disease were found to have the same novel variant in the IFT140 gene, along with another, previously reported variant. An unrelated individual with a similar retinal phenotype was found to have a novel variant in the IFT172 gene, although this was noted as a variant of uncertain significance. The patients underwent testing with the Blueprint Genetics (Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland) "My Retina Tracker Program Panel Plus" panel.

Conclusion: Novel variants in the IFT140 and IFT172 genes encoding the IFT complex may contribute to similar retinal dystrophy phenotypes, as noted in our case series.

Introduction: Vasoproliferative tumors (VPTs) can be associated with retinal dystrophy, but there are few well-documented cases and even fewer linked to Usher syndrome. Most reported cases are unilateral. The purpose of this report was to describe a case of bilateral sequential VPT in the context of MYO7A-related Usher syndrome.

Case report: A 13-year-old female presented with pain in her left eye and no light perception in that eye. She was found to have left eye advanced neovascular glaucoma related to VPT in the context of MYO7A-related Usher syndrome. Intraocular pressure and pain were controlled with external diode cyclodestruction. Almost 3 years later, early asymptomatic VPT was noted in the right eye during follow-up and was treated with laser photocoagulation.

Conclusion: Although VPT is typically unilateral, affected patients need careful follow-up for possible bilateral sequential disease. Early treatment avoids blinding complications.