Retinal Cases and Brief Reports最新文献

Purpose: The aim of this study was to present a patient with systemic lupus erythematosus on longstanding hydroxychloroquine (HCQ) use for whom HCQ was stopped because of signs of toxicity and then resumed four years later because of dire systemic need.

Methods: This is a long-term retrospective study. Humphrey visual fields (10-2 and 24-2), fundus autofluorescence imaging, and spectral domain optical coherence tomography (OCT) were used to follow progression over time.

Results: The patient was on HCQ for 26 years, with a cumulative dose over 3,000 g. HCQ was stopped in 2011 because of macular toxicity. She remained off HCQ for four years, during which time she developed type 1 diabetes due to an immunologic attack on the pancreas and then JC (John Cunningham) viremia after a period of treatment with mycophenolate, which put her at risk for progressive multifocal leukoencephalopathy. Mycophenolate was discontinued, and HCQ was resumed with careful follow-up over the next 7 years. The toxic maculopathy showed only mild slow progression since HCQ was resumed.

Conclusion: Careful annual monitoring using Humphrey visual field 10-2 and spectral domain OCT imaging remains the standard of care for the patients on HCQ. However, it may be possible with close monitoring when there is compelling systemic need to resume HCQ after it has been stopped, with only slow progression of the retinopathy. This allowed the patient to have an improved quality of life and reduced the risk of severe morbidity and mortality.

Purpose: The aim of this study was to present a case of a young female patient with asymptomatic retinal dysfunction associated with alpha-methylacyl-CoA (alpha-methylacyl-CoA racemase) racemase deficiency.

Methods: This was a retrospective analysis of the medical notes of a single patient. Detailed slit-lamp examination was completed by Optos color fundus photography and enhanced depth imaging optical coherence tomography. Genetic testing was conducted to establish the diagnosis, and the patient was also referred to the Department of Neurology for further assessment.

Results: Dilated fundoscopy and ophthalmic imaging revealed bilateral retinal pigment epithelium abnormalities that could be associated with a genetic retinal disorder. Indeed, genetic testing showed that this lady was homozygous for alpha-methylacyl-CoA racemase (OMIM 604489; Gene ID 23600) variant NM 014324.6: c.154T>C; p.(Ser52Pro). She had no detectable neurological deficit.

Conclusion: Alpha-methylacyl-CoA racemase deficiency is a rare genetic condition that can potentially contribute to retinal dystrophy through various mechanisms. In addition, it may lead to a wide spectrum of systemic signs and symptoms. Interestingly, in contrast to other reported studies, the patient was completely asymptomatic, with no evidence of systemic disorders.

Purpose: The aim of this study was to describe a case of choroidal osteoma with macular involvement in an infant who was treated with transpupillary thermotherapy.

Methods: This was a case report.

Results: An 11-month-old infant presented for retinopathy of prematurity follow-up examination and was found to have a three disk-diameter round, orange, subretinal, slightly elevated lesion with well-defined margins in the superior macula of the left eye. B-scan ultrasonography showed a slightly elevated, highly reflective choroidal mass with acoustic shadowing. A diagnosis of choroidal osteoma was made. Six months later, repeat examination under anesthesia showed the lesion to be increasing in size and encroaching on the fovea. Given demonstrated growth and the risk of central vision loss, the patient was treated with transpupillary thermotherapy. Subsequent EUAs, over a period of 4 months, have shown complete decalcification with no subsequent growth.

Conclusion: Choroidal osteomas are benign lesions that can be sight-threatening if located in the macula. Transpupillary thermotherapy in this case resulted in complete regression of a sight-threatening extrafoveal choroidal osteoma at 4-month follow-up.

Purpose: The aim of this study was to describe novel findings seen on optical coherence tomography angiography (OCTA) and indocyanine green angiography in a young male patient presenting with bilateral topiramate-induced choroidal effusion.

Methods: This is a retrospective case report. A comprehensive ophthalmic examination was conducted and multimodal imaging techniques, including B-scan ultrasound, OCT, OCTA, and indocyanine green angiography were analyzed.

Results: A male patient in his 30s presented with a myopic shift due to bilateral choroidal effusion induced by a medication containing topiramate prescribed for weight loss. Indocyanine green angiography showed multiple hypofluorescent spots within the choroid corresponding to areas of reduced OCTA flow signal in both the inner and deeper en face choroidal slabs. Symptoms and abnormal imaging findings resolved within 5 days of discontinuing the medication.

Conclusion: Findings observed with OCTA and indocyanine green angiography together suggest multifocal reversible areas of reduced choroidal vascular flow occurring in a topiramate-induced choroidal effusion. The authors propose that this transient hypoperfusion is due to compression from deeper choroidal vessels with a congested choroid.

Purpose: The aim of this study was to report a novel case of hypertensive uveitis with intravitreal faricimab.

Methods: This is a case report. A 69-year-old woman undergoing treatment of bilateral diabetic macular edema with intravitreal faricimab presented for routine review. Ophthalmic examination was performed including VA, intraocular pressure, gonioscopy, and slitlamp examination. Findings consistent with hypertensive uveitis prompted further infectious/inflammatory/infiltrative uveitis screen.

Results: The patient developed hypertensive uveitis in the left eye (four weeks after the third injection) with an intraocular pressure of 42 mmHg. Slitlamp examination revealed fine keratic precipitates and mild anterior uveitis. Anterior chamber angle was open on gonioscopy, and there was no vitritis or vasculitis. At the review a week later, the patient had developed hypertensive uveitis in the right eye (six weeks after the fourth injection) with intraocular pressure of 35 mmHg. Slitlamp examination revealed fine keratic precipitates, open angles, and mild vitritis. There was no vasculitis. At both presentations, the patient had preserved VA with no significant visual symptoms. The hypertensive uveitis resolved in both eyes with a course of steroid and antihypertensive eye drops. The uveitis screen was negative apart from elevated urine protein (negative beta-2 microglobulin), which could be explained by known diabetes and hypertension.

Conclusion: Hypertensive uveitis is a potential adverse reaction to intravitreal faricimab. This case highlights the importance of monitoring intraocular pressure in patients undergoing treatment with faricimab and emphasizes the need for reporting other cases in the community.

Purpose: None of the authors has any financial/conflicting interests to disclose.The aim of this study was to report a surgical technique of cyclopexy, wherein two laps of encircling continuous sutures are placed around the limbus to treat refractory extensive cyclodialysis.

Methods: This study employed swept-source optical coherence tomography for anterior segment, color fundus photography, and spectral-domain optical coherence tomography for the macula.

Results: Previous attempts, including indirect cyclopexy and direct external cyclopexy with gas injection, failed to successfully resolve the severe cyclodialysis and associated hypotonic maculopathy. In the third surgery, two laps of encircling continuous sutures were placed around the limbus at the distances of 2-3 mm and 3-4 mm, respectively, along with phacoemulsification, intraocular lens implantation, and capsular tension ring placement. After surgery, hypotony and hypotonic maculopathy were effectively resolved, resulting in a significant improvement in VA that has been maintained over a year.

Conclusion: The described surgical technique of encircling continuous sutures may be a viable option for the treatment of severe cyclodialysis.

Purpose: The aim of this study was to report a patient with Shwachman-Diamond syndrome and concomitant rod-cone dystrophy who underwent bone marrow transplantation.

Methods: This was a retrospective single case report.

Results: A female patient with Shwachman-Diamond syndrome was referred to a tertiary hospital to investigate possible pigmentary retinopathy at the age of 16 years. She described poor night vision and was found to have reduced VA (6/20 right eye, 6/38 left eye). Over the 10-year follow-up, her VA remained relatively stable with no new visual symptoms. Optical coherence tomography revealed progressive, diffuse outer retinal thinning with disruption of the ellipsoid zone, which initially was relatively preserved subfoveally. Fundus autofluorescence images revealed generalized areas of hypoautofluorescence beyond the vascular arcades and a perimacular ring of increased autofluorescence. The flash electroretinogram was in keeping with a severe rod-cone dystrophy. The pattern visual evoked potential was abnormal but detectable, indicating macular pathway dysfunction, suggesting encroachment into central macular regions but with some functional preservation.

Conclusion: The authors report a patient with Shwachman-Diamond syndrome with severe early-onset rod-cone dystrophy noted at the age of 16 years. Slow anatomical progression has been observed over the subsequent 10 years, with relative functional macular preservation to support a VA of 6/36 in both eyes.

Purpose: To illustrate the successful management of advanced coats disease with exudative retinal detachment with posterior lens touch in a three year old young boy using subretinal drainage technique using an extrusion cannula.

Methods: Under general anesthesia, external drainage of subretinal fluid (SRF) was performed using an active extrusion cannula. Concurrent cryotherapy and endolaser treatment were administered, with cytological analysis of SRF to exclude retinoblastoma.

Results: The retina achieved near-complete reattachment on the first postoperative day and maintained stability during the six-month follow-up period.

Conclusion: Active extrusion cannula-based sub retinal drainage technique might be helpful to achieve quicker reattachment of retina in advanced coats disease with massive exudative retinal detachment.

Purpose: To report a rare case of systemic lymphoma causing a birdshot-like chorioretinopathy (BSCR) in a histocompatibility leukocyte antigen (HLA)-A29 negative patient.

Methods: A 58-year-old man presented with a one year history of blurry vision and intermittent floaters. He had evidence of bilateral choroidal birdshot-like lesions which appeared atrophic without any vitritis. He had a history of low-grade B-cell lymphoma and chronic myeloid leukemia, both of which were diagnosed >10 years prior to presentation and treated with chemotherapy.

Results: The differential diagnosis of these birdshot-like lesions included autoimmune, neoplastic, and infectious etiologies. Work-up revealed a negative HLA-A29, and negative results for syphilis and tuberculosis. Magnetic resonance imaging (MRI) revealed enhancement of the trigeminal and oculomotor nerve cisternal segments but no overt evidence of malignancy. Full field electroretinogram (ffERG) and multifocal electroretinogram (mfERG) tests were within normal limits. Serial follow-up clinical examinations, retinal imaging, ffERG and mfERG demonstrated no disease progression. Two years after his initial consultation, he developed a paraspinal mass which was biopsied and found to be diffuse large B-cell lymphoma (DLBCL) and was treated with chemotherapy.

Conclusion: Clinicians should consider BSCR masquerade syndromes in patients that present with birdshot-like choroidal lesions with negative HLA-A29, history of lymphoma, or atypical characteristics. In this case, we suspect the patient's past low-grade B-cell lymphoma and chemotherapy resulted in the chronic choroidal findings. It is unclear whether choroidal involvement predisposes a patient to high-grade transformation to DLBCL. His ocular findings remained inactive throughout the treatment of his DLBCL.

Purpose: To report a rare case of bilateral giant retinal tear (GRT)-related retinal detachments in a 24-month-old male with Donnai-Barrow syndrome (DBS) and to review the current literature on this disorder.

Methods: Clinical information was obtained from the medical records of a patient with Donnai-Barrow syndrome seen at the Children's Hospital of Philadelphia. A literature review was conducted to identify all published cases of genetically or clinically diagnosed Donnai-Barrow syndrome.

Results: We report a case of a 24-month-old male with a history of DBS presenting with sudden loss of vision in both eyes. Ophthalmic examination revealed bilateral retinal detachments with GRT, complicated by grade C proliferative vitreoretinopathy (PVR) in the right eye. The patient underwent sequential scleral buckling, pars plana vitrectomy, membrane peeling, perfluoron, endolaser, fluid air exchange, and silicone oil placement in both eyes. Both eyes developed re-detachment, requiring repeat pars plana vitrectomy. Literature review revealed 10 reported cases of retinal detachments out of 38 DBS patients who survived past 1 year (26.3%).

Conclusion: This case highlights the early presentation and complexity of GRT-related retinal detachment in DBS patients. Early, aggressive management using prophylactic laser retinopexy or scleral buckling may be essential in improving visual outcomes in DBS patients.