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1.
Orbit ; : 1-5, 2023 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-36891670

RESUMEN

Intraorbital foreign bodies (IOrFBs) are a significant cause of ocular morbidity. Although plastic IOrFBs are rare, the increasing use of plastic and polymer composites in motor vehicles will increase their prevalence. Although challenging to identify, plastic IOrFBs have unique radiographic characteristics. The authors describe a case of an 18-year-old man with a history of a motor vehicle accident and a left upper eyelid laceration. In retrospect, imaging suggested a plastic IOrFB, which was initially overlooked. A follow-up examination demonstrated persistent left upper lid ptosis with an underlying mass. Further work-up revealed a retained IOrFB, which was removed via anterior orbitotomy. Scanning electron microscopy of the material was consistent with a plastic polymer. This case demonstrates the importance of maintaining a high suspicion for IOrFBs in the correct clinical context, the need for increased awareness of plastic and polymer composite IOrFBs, and the use of diagnostic imaging for identification.

2.
Orbit ; 42(3): 273-278, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35801838

RESUMEN

PURPOSE: To evaluate the incidence of severe ocular injury requiring emergent ophthalmic evaluation in visually asymptomatic patients presenting with orbital fractures. METHODS: We performed a retrospective chart review of all adult and pediatric orbital fractures between 2012-2022 at a level 1 trauma center. Ocular injuries were categorized into severe, moderate, and mild. We evaluated symptoms, mechanism of injury, visual acuity (VA), and severity of injuries using the Cochran-Armitage and linear-by-linear tests. RESULTS: Of the 2495 cases, 1534 had ophthalmology evaluation. The mean ± standard deviation age was 40.4 ± 20.4 years. Most patients were male (73.1%) and Caucasian (75.9%). The mean time to evaluation was 0.6 ± 2.5 days. 486 (31.7%) were visually symptomatic, 760 (49.5%) were asymptomatic, and 288 (18.8%) were unknown. Of the symptomatic, 135 (27.8%) had severe injuries, 108 (22.2%) had moderate injuries, 216 (44.4%) had mild injuries, and 27 (5.6%) had no injuries. Of the asymptomatic, 67 (8.8%) had severe injuries, 183 (24.1%) had moderate injuries, 468 (61.6%) had mild injuries, and 42 (5.5%) had no injuries. Symptoms correlated with injury severity (p-value <.001). The most common mechanism of injury were falls (24.0%), assaults (22.2%), and motor vehicle accidents (14.8%). CONCLUSIONS: Visually asymptomatic orbital fractures were less likely to have severe ocular injuries; however, many patients were unable to express symptoms. Emergent ophthalmology evaluation should be considered in all patients presenting with orbital fractures, especially patients with visual symptoms or are unable to report symptoms.


Asunto(s)
Lesiones Oculares , Fracturas Orbitales , Humanos , Adulto , Masculino , Niño , Adulto Joven , Persona de Mediana Edad , Femenino , Fracturas Orbitales/epidemiología , Fracturas Orbitales/complicaciones , Incidencia , Estudios Retrospectivos , Lesiones Oculares/epidemiología , Lesiones Oculares/etiología , Agudeza Visual
3.
BMC Med Educ ; 22(1): 744, 2022 Oct 27.
Artículo en Inglés | MEDLINE | ID: mdl-36303156

RESUMEN

BACKGROUND: The use of cognitive-enhancing medications and supplements among healthy adults continues to rise. Limited data exists on their use among resident physicians. Given their highly competitive and stressful lifestyle, we sought to evaluate the prevalence, motivations, and side effects of using cognitive-enhancing supplements and medications among resident physicians at a large United States academic institution. METHODS: An anonymous web-based survey was circulated to resident physicians inquiring about using cognitive-enhancing supplements and medications, as well as personal characteristics such as gender, marital and parental status, medical diagnoses, and medical specialty. Before circulation, we performed a pilot study. Weighted logistic regression analyses estimated the impact of personal characteristics on the probability of using both supplements and medications. RESULTS: Survey response rate was 46.4%. Of respondents, 48.6% were female, 45.9% were married, 70.9% were without children, and 67.2% were in a non-surgical medical specialty. Few respondents had a related medical diagnosis, with attention deficit hyperactivity disorder being the most common (7.1%). Male, non-married, surgical residents were more likely to take supplements (odds ratio (OR) = 1.06, 1.05, and 1.05). Males, without children, and those who felt pressure to perform well, were afraid of being left behind, felt pressure because colleagues take them, or felt they could not reach their current level of training without medications were more likely to take medications (OR = 1.11, 1.04, 1.05, and 1.08). Adverse effects with medications were common. CONCLUSION: Supplement and medication use for cognitive enhancement was high among resident physicians at a single institution despite few having a related medical diagnosis. This study raises awareness of the growing pressure in competitive residency environments to use cognitive enhancement regardless of the potential side effects.


Asunto(s)
Internado y Residencia , Médicos , Adulto , Niño , Masculino , Estados Unidos , Humanos , Femenino , Proyectos Piloto , Encuestas y Cuestionarios , Médicos/psicología , Cognición
4.
Orbit ; : 1-5, 2022 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-35581713

RESUMEN

Ipilimumab, an immune checkpoint inhibitor used in the treatment of metastatic melanoma, can cause immune-related adverse events including rare ocular-related inflammation. This is a case of a 54-year-old man with metastatic melanoma and bilateral orbital inflammation associated with ipilimumab that occurred after drug rechallenge 6 years after initial orbital inflammation with ipilimumab use. Imaging revealed tendon-involving myositis. He was managed with intravenous corticosteroid and intravenous immunoglobulin therapy with improvement in his orbital inflammation. This case demonstrates the potential ocular effects of ipilimumab use, differentiation of ipilimumab-associated orbital inflammation from thyroid orbitopathy and management considerations to effectively reduce orbital inflammation.

5.
J Urol ; 201(4): 742-750, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30321553

RESUMEN

PURPOSE: In this study we explored the effect of Agent Orange exposure on prostate cancer survival in VA (Veterans Affairs) patients receiving androgen deprivation therapy for advanced prostate cancer. MATERIALS AND METHODS: We retrospectively examined the association between Agent Orange exposure in men with prostate cancer in national VA databases who were being treated with androgen deprivation therapy. Patients were diagnosed with prostate cancer from 2000 to 2008 with followup through May 2016. Clinical, pathological and demographic variables were compared by Agent Orange exposure. Associations of Agent Orange with overall survival, skeletal related events and cancer specific survival were performed using adjusted Cox proportional hazard models after IPSW (inverse propensity score weighted) adjustment. RESULTS: Overall 87,344 patients were identified. The 3,475 Agent Orange exposed patients were younger (p <0.001), had lower prostate specific antigen (p = 0.002) and were more likely to receive local therapy and chemotherapy (p <0.001) than the 83,869 nonexposed patients. The Charlson comorbidity index was similar in the groups (p = 0.40). After IPSW adjustment Agent Orange exposure was associated with improved overall survival (HR 0.84, 95% CI 0.73-0.97, p = 0.02). However, no difference was observed in the risk of skeletal related events (HR 1.04, 95% CI 0.80-1.35, p = 0.77) or cancer specific survival (HR 0.79, 95% CI 0.60-1.03, p = 0.08). CONCLUSIONS: Agent Orange exposure was associated with a decreased risk of death in men receiving androgen deprivation therapy for advanced prostate cancer. It does not appear to be associated with worse oncologic outcomes.


Asunto(s)
Agente Naranja/toxicidad , Defoliantes Químicos/toxicidad , Neoplasias de la Próstata/mortalidad , Salud de los Veteranos , Anciano , Antagonistas de Receptores Androgénicos/uso terapéutico , Hormona Liberadora de Gonadotropina/análogos & derivados , Humanos , Masculino , Persona de Mediana Edad , Neoplasias de la Próstata/tratamiento farmacológico , Neoplasias de la Próstata/patología , Estudios Retrospectivos , Tasa de Supervivencia
8.
Ocul Immunol Inflamm ; : 1-5, 2023 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-37079881

RESUMEN

PURPOSE: To report the outcomes of intracameral tissue plasminogen activator (tPA) use during uveitic cataract surgery. DESIGN: Retrospective case series from a single United States tertiary center of 36 eyes from 31 consecutive patients with established uveitis who received intraoperative intracameral tPA during cataract surgery between 2016 and 2020. RESULTS: Mean visual acuity (VA) improved from logMAR 1.0 ± 0.7 preoperatively to logMAR 0.7 ± 0.8 by POM12. VA improved from baseline postoperatively (POM1 p = 0.0002, POM6 p = 0.006 and POM12 p = 0.007). Minimal to no anterior chamber inflammation was achieved in 47.2% of the eyes by POW1 and 80.0% of the eyes by POM1. Mean clock-hours of posterior synechiae improved from 8.2 ± 3.8 preoperatively to 0.1 ± 0.6 by POM12. Six eyes developed hyphema and/or vitreous hemorrhage, four of which resolved spontaneously. CONCLUSIONS: Adjunctive intracameral tPA during uveitic cataract surgery improves VA and intraocular inflammation, but risks postoperative hemorrhage. Intraoperative tPA as adjunctive anti-inflammatory therapy warrants randomized prospective studies.

9.
Retin Cases Brief Rep ; 17(2): 165-169, 2023 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-34709007

RESUMEN

PURPOSE: To present novel findings in stellate nonhereditary idiopathic foveomacular retinoschisis, including the largest series of optical coherence tomography angiography findings to date. METHODS: A retrospective case series with multimodal imaging was obtained and reviewed. RESULTS: All three patients were women, aged 59-63. Two cases were unilateral, and one was bilateral. Vision ranged from 20/20 to 20/60 in the affected eyes. Peripheral retinoschisis was observed in all three patients. All patients were followed for a minimum of 1 year. In one case, progressive macular retinoschisis leading to foveal involvement was observed over two years, with an associated vision decline from 20/25 to 20/60. Attempted interventions included topical dorzolamide in all cases and intravitreal bevacizumab in one patient; however, no treatment effect was observed. The foveal avascular zone size was within normal limits (mean 280 µ m). In all stellate nonhereditary idiopathic foveomacular retinoschisis eyes, the retinoschisis cavities were nonvascular. CONCLUSION: Novel findings regarding stellate nonhereditary idiopathic foveomacular retinoschisis include the progressive nature of foveal involvement and the lack of response to topical dorzolamide and intravitreal bevacizumab. Foveal avascular zone was normal in all eyes, consistent with the relatively preserved vision in these cases. Retinoschisis cavities were nonvascular in all eyes, a finding which may give insight into the mechanism of this disease.


Asunto(s)
Retinosquisis , Humanos , Femenino , Masculino , Tomografía de Coherencia Óptica/métodos , Bevacizumab , Estudios Retrospectivos , Angiografía con Fluoresceína/métodos
10.
BMJ Open Ophthalmol ; 8(1)2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37890895

RESUMEN

OBJECTIVE: To investigate associations between baseline macular pigment optical density (MPOD) and retinal layer thicknesses in eyes with and without manifest primary open-angle glaucoma (POAG) in the Carotenoids in Age-Related Eye Disease Study 2 (CAREDS2). METHODS AND ANALYSIS: MPOD was measured at CAREDS baseline (2001-2004) via heterochromatic flicker photometry (0.5° from foveal centre). Peripapillary retinal nerve fibre layer (RNFL), macular ganglion cell complex (GCC), ganglion cell layer (GCL), inner plexiform layer (IPL), and RNFL thicknesses were measured at CAREDS2 (2016-2019) via spectral-domain optical coherence tomography. Associations between MPOD and retinal thickness were assessed using multivariable linear regression. RESULTS: Among 742 eyes (379 participants), manifest POAG was identified in 50 eyes (32 participants). In eyes without manifest POAG, MPOD was positively associated with macular GCC, GCL and IPL thicknesses in the central subfield (P-trend ≤0.01), but not the inner or outer subfields. Among eyes with manifest POAG, MPOD was positively associated with macular GCC, GCL, IPL and RNFL in the central subfield (P-trend ≤0.03), but not the inner or outer subfields, and was positively associated with peripapillary RNFL thickness in the superior and temporal quadrants (P-trend≤0.006). CONCLUSION: We observed a positive association between MPOD and central subfield GCC thickness 15 years later. MPOD was positively associated with peripapillary RNFL superior and temporal quadrant thicknesses among eyes with manifest POAG. Our results linking low MPOD to retinal layers that are structural indicators of early glaucoma provide further evidence that carotenoids may be protective against manifest POAG.


Asunto(s)
Glaucoma de Ángulo Abierto , Mácula Lútea , Pigmento Macular , Humanos , Glaucoma de Ángulo Abierto/diagnóstico por imagen , Mácula Lútea/diagnóstico por imagen , Células Ganglionares de la Retina , Presión Intraocular , Tomografía de Coherencia Óptica/métodos
11.
Case Rep Ophthalmol ; 13(3): 929-935, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36466063

RESUMEN

This clinical case report describes a single case of a progressively enlarging anterior chamber cyst arising in a patient with prior cataract surgery. We detail findings of a large implantation cyst within the anterior chamber, confirmed on ultrasound biomicroscopy. The patient was successfully treated with needle aspiration and injection of 5-fluorouracil without recurrence at 5 months. Anterior chamber cysts are a rare side effect of cataract surgery caused by intrusion of epithelial cells during surgery. Patients may present with a progressively enlarging mass requiring surgical intervention. Aspiration and injection of a cytodestructive chemical agent is one conservative approach in the management of an implantation cyst, with our patient exhibiting favorable visual outcomes.

12.
Am J Ophthalmol Case Rep ; 26: 101500, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35372713

RESUMEN

Purpose: We report a case of chronic post-operative endophthalmitis secondary to Cutibacterium acnes (C. acnes) in a patient with an implantable collamer lens (ICL). Observations: A 45-year-old male presented three months after ICL implantation of the right eye with blurry vision, redness, and ocular pain in the setting of prolonged post-operative anterior chamber (AC) cell. Reduced visual acuity (VA) at 20/30-1, keratic precipitates, 1+ AC cell, and white ICL precipitates were concerning for chronic post-operative endophthalmitis. Anaerobic cultures from a vitreous tap grew C. acnes. Multiple intravitreal and intracameral injections with topical steroids were required to maintain a stable VA at 20/30; however, inflammation persisted and removal of the ICL and his native lens was ultimately required. Conclusions and importance: Chronic post-operative inflammation and white plaque after ICL implantation should raise high suspicion for endophthalmitis secondary to C. acnes. Anaerobic vitreous cultures can confirm the diagnosis. Removal of the ICL implant is often necessary for treatment. More research is needed to best manage this vision threatening condition.

13.
Artículo en Inglés | MEDLINE | ID: mdl-36729827

RESUMEN

PURPOSE: To report a case of post-traumatic endophthalmitis secondary to Bacillus pumilus/safensis. METHODS: Observational case report of a single patient. RESULTS: A 62-year-old man presented with a traumatic corneal laceration due to baling wire while working on a sheep farm. Appropriate corneal laceration repair with injection of intravitreal antibiotics (ceftazidime, clindamycin, and vancomycin) was performed. A single organism, identified as either Bacillus pumilus or Bacillus safensis, was isolated from the vitreous aspirate. A subsequent pars plana vitrectomy, pars plana lensectomy, anterior capsulotomy, and fluid air exchange was required due to severe inflammatory reaction from retained lens material, retinal edema, and vitreous opacities. Vision improved from hand motion to 20/60 at the three-month follow-up visit. CONCLUSION: We describe a case of acute post-traumatic endophthalmitis secondary to Bacillus pumilus/safensis.Précis: The authors describe a case of acute post-traumatic endophthalmitis secondary to Bacillus pumilus/safensis, which was successfully managed with intravitreal antibiotics, pars plana vitrectomy, pars plana lensectomy, anterior capsulotomy, and fluid air exchange.

14.
Case Rep Ophthalmol ; 12(2): 457-463, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34177542

RESUMEN

We report a case of morning glory disc anomaly in a young patient with tractional retinal detachment successfully repaired with complex pars plana vitrectomy, membrane peel, laser, and oil tamponade. A 19-year-old female with a history of right morning glory disc anomaly associated with PAX6 gene mutation presented with floaters, photopsia, central scotoma, and visual acuity (VA) of 1/200. A complex macula-involving tractional retinal detachment centered around the optic nerve with a morning glory disc anomaly. Retinal detachment was treated with 25-gauge pars plana vitrectomy with difficult separation of the posterior hyaloid. Fibrous preretinal membranes were peeled, a temporal relaxing retinotomy was required, subretinal fluid was drained through a superonasal retinotomy during air-fluid exchange, endolaser was applied, and tamponade was achieved with 1,000-centistoke silicone oil. The retina remained attached at 1-year follow-up, with VA count fingers throughout. Morning glory disc is a rare congenital anomaly associated with PAX6 gene mutation that most often occurs unilaterally. It is rarely associated with tractional retinal detachment. Optimization of visual outcome is imperative despite a poor visual prognosis.

15.
Ophthalmol Retina ; 5(10): 991-998, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-33373715

RESUMEN

PURPOSE: To evaluate the association between baseline demographic and spectral domain OCT (SD-OCT) features with visual acuity (VA) in the Study of COmparative Treatments for REtinal Vein Occlusion 2 (SCORE2) over 2 years. DESIGN: Post hoc analysis of prospective clinical trial data. PARTICIPANTS: A total of 362 SCORE2 participants with macular edema secondary to central retinal (CRVO) or hemiretinal vein occlusion (HRVO). METHODS: Spectral domain OCT volume scans were assessed at the SCORE2 reading center at baseline, month 01 (M01), month 06 (M06), month 12 (M12), and month 24 (M24) for central subfield thickness (CST), subretinal fluid, intraretinal fluid, vitreoretinal interface abnormalities, disorganization of retinal inner layers (DRIL), and ellipsoid zone (EZ) within the central subfield (CSF). MAIN OUTCOME MEASURES: Visual acuity at M06, M12, and M24. RESULTS: Mean baseline age was 68.9 years. Mean VA at M01 was 63.2 letters, and CST was 299.7 µm. At M01, subretinal fluid was seen in 28.5% intraretinal fluid in 67.2%, DRIL was seen in 73.8%, mostly within the CSF, and the EZ was absent in 9.8 and patchy in 31.7%. In multivariate analysis including all M01 demographics and SD-OCT parameters and their association with VA at M06, M12, and M24, VA at M01 remained significant across all time points up to M24 (P < 0.001). CONCLUSIONS: In this 2-year follow-up of eyes that were treated with both per protocol and off protocol for RVO, VA at M01 was an important predictor of long-term vision and change in vision. Establishing predictors of visual recovery helps identify causes for poor responders to treatment in patients with RVO.


Asunto(s)
Inhibidores de la Angiogénesis/uso terapéutico , Edema Macular/diagnóstico por imagen , Oclusión de la Vena Retiniana/diagnóstico por imagen , Tomografía de Coherencia Óptica , Agudeza Visual/fisiología , Anciano , Anciano de 80 o más Años , Bevacizumab/uso terapéutico , Femenino , Estudios de Seguimiento , Humanos , Inyecciones Intravítreas , Edema Macular/tratamiento farmacológico , Edema Macular/fisiopatología , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Receptores de Factores de Crecimiento Endotelial Vascular/uso terapéutico , Proteínas Recombinantes de Fusión/uso terapéutico , Oclusión de la Vena Retiniana/tratamiento farmacológico , Oclusión de la Vena Retiniana/fisiopatología , Líquido Subretiniano
16.
Transl Vis Sci Technol ; 10(2): 39, 2021 02 05.
Artículo en Inglés | MEDLINE | ID: mdl-34003924

RESUMEN

Purpose: To evaluate the relationship of retinal layer thickness with age and age-related macular degeneration (AMD) in the Carotenoids in Age-Related Eye Disease Study 2. Methods: Total retinal thickness within the macular area, and individual layer thickness was determined for CAREDS2 participants (n = 906 eyes, 473 women) from the Women's Health Initiative using Heidelberg optical coherence tomography (OCT). Mean measurements within the OCT grid were compared across age tertiles (69-78, 78-83, and 83-101 years) and AMD outcomes. Results: Mean retinal thickness in the central circle, inner ring, and outer ring were 277 ± 34 µm, 326 ± 20 µm, and 282 ± 15 µm, respectively. Thickness did not vary by age in the central circle, but decreased with age in the inner and outer circles (P ≤ 0.004). Specifically, ganglion cell (GCL), inner plexiform, and outer nuclear (ONL) layer thickness decreased with age (P ≤ 0.003). Age-adjusted retinal thickness in all three circles did not vary by AMD outcomes (486 without AMD and 413 with AMD). However, individual layers showed changes with GCL and photoreceptor thinning and retinal pigment epithelial thicknening in eyes with late AMD. After controlling for age and AMD, higher ONL thickness was associated with better visual acuity. Conclusions: In this cohort of older women, a decrease in perifoveal thickness was associated with increasing age, particularly in the inner retinal layers. Variabilty in thickness in AMD eyes was primarily due to outer retinal layers. Among all retinal layers, the ONL plays an important role in preserving visual acuity. Translational Relevance: The study provides a deeper understanding of age related changes to the retinal layers and their effect on visual loss.


Asunto(s)
Carotenoides , Degeneración Macular , Anciano , Femenino , Humanos , Degeneración Macular/diagnóstico por imagen , Retina/diagnóstico por imagen , Tomografía de Coherencia Óptica , Salud de la Mujer
17.
Transl Vis Sci Technol ; 10(3): 31, 2021 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-34003964

RESUMEN

Purpose: To evaluate the association between ellipsoid zone (EZ) on spectral domain optical coherence tomography (SD-OCT) and visual acuity letter score (VALS) in participants with retinal vein occlusion in the Study of Comparative Treatments for Retinal Vein Occlusion 2. Methods: SD-OCT scans of 362 participants were qualitatively assessed at baseline and months 1, 6, 12, and 24 for EZ status as normal, patchy, or absent. The thickness of EZ layer in the central subfield was also obtained using machine learning. Results: EZ assessments were not possible at baseline due to signal blockage in >75% of eyes. At month 1, EZ was normal in 37.6%, patchy in 48.1%, and absent in 14.3%. EZ was measurable in 48.7% with a mean area of 0.07 ± 0.16 mm2. Mean VALS was better in eyes without an EZ defect compared to eyes with an EZ defect (P < 0.0001 at all visits). EZ defect at month 1 was associated with poorer VALS at all follow-up visits (P < 0.0001). Conclusions: Both qualitative and quantitative assessments of EZ status strongly correlated with VALS. Absence of EZ was associated with poorer VALS at both corresponding and future visits, with larger areas of EZ loss associated with worse VALS. Translational Relevance: Assessment of EZ can be used to identify patients with potentially poor response in eyes with retinal vein occlusion.


Asunto(s)
Oclusión de la Vena Retiniana , Ojo , Humanos , Aprendizaje Automático , Oclusión de la Vena Retiniana/diagnóstico , Tomografía de Coherencia Óptica , Agudeza Visual
18.
Int J Retina Vitreous ; 6(1): 64, 2020 Dec 03.
Artículo en Inglés | MEDLINE | ID: mdl-33292781

RESUMEN

BACKGROUND AND OBJECTIVE: To report novel findings and limitations from optical coherence tomography angiography (OCTA) in the evaluation of autoimmune retinopathy (AIR). STUDY DESIGN: We retrospectively reviewed features of five patients diagnosed with AIR and five controls. OCTA scans were obtained and manually segmented to provide accurate measurements of foveal avascular zone (FAZ), vessel density, and retinal thickness at different levels. RESULTS: The total retina and superficial vessel density throughout the whole scan were similar between AIR and controls (p = 0.14 and p = 0.11), whereas deep vessel density was decreased in AIR compared controls (p = 0.02). Decreased vessel density was most pronounced in the parafoveal and perifoveal areas (p = 0.01 and p = 0.01). AIR patients also had reduction of total retinal thickness in the perifoveal zone (p = 0.03), corresponding to outer retinal thinning (p = 0.001). CONCLUSION: This small series shows that AIR patients have reduced deep vessel density, particularly in the parafoveal and perifoveal regions and a decrease in macular thickness. These findings show correlation with the classic "flying saucer" sign seen on OCT.

19.
Am J Ophthalmol Case Rep ; 20: 100873, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32944671

RESUMEN

PURPOSE: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease. OBSERVATIONS: The first case is of a 2-year-old boy with history of spasmus nutans who presented with head bobbing and nystagmus. The second patient is a 5-year-old boy with history of infantile dilated cardiomyopathy status post heart transplant, Burkitt lymphoma status post chemotherapy, obesity, global developmental delay, and high hyperopia previously thought to have cortical visual impairment secondary to heart surgery/possible ischemic event. This patient presented with nystagmus, photophobia, and reduced vision. The third case involves a 8-year-old boy with history of obesity, bilateral optic nerve atrophy, hyperopic astigmatism, exotropia, and nystagmus. Upon presentation to the consulting pediatric ophthalmologist, none of the patients had yet been diagnosed with ALMS. All 3 cases were subsequently found to have an electroretinogram (ERG) that exhibited severe global depression and to carry ALMS1 pathogenic variants. CONCLUSIONS AND IMPORTANCE: ALMS is an autosomal recessive disease caused by ALMS1 variations, characterized by cone-rod dystrophy, obesity, progressive sensorineural hearing loss, cardiomyopathy, insulin resistance, and multiorgan dysfunction. Retinal dystrophy diagnosis is critical given clinical criteria and detection rates of genetic testing. Early diagnosis is extremely important because progression to flat ERG leads to the inability to differentiate between rod-cone or cone-rod involvement, either of which have their own differential diagnoses. In our series, the ophthalmic exam and abnormal ERG prompted further genetic testing and the subsequent diagnosis of ALMS. Multidisciplinary care ensures the best possible outcome with the ophthalmologist playing a key role.

20.
Am J Ophthalmol Case Rep ; 17: 100586, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31956728

RESUMEN

PURPOSE: We report a case of Schwartz-Matsuo syndrome that highlights the pathophysiology, diagnostic challenges, and management considerations of this rare disease. OBSERVATIONS: 31-year-old man with a history of left eye cataract presented with left eye photophobia and elevated intraocular pressure (IOP) of 64 mm Hg. Visual acuity 20/40. Open angles with an increased pigment of trabecular meshwork by gonioscopy, 2 + anterior chamber (AC) cell, superior retinal detachment, and 0.6 cup-to-disc ratio. Electron microscopy of AC fluid demonstrated outer segments of photoreceptors. IOP was lowered with oral and topical ophthalmic antihypertensives. Retinal detachment was treated with pars plana vitrectomy with endolaser, gas tamponade, and AC paracentesis. Follow-up VA 20/20 with normal IOP. CONCLUSIONS AND IMPORTANCE: Schwartz-Matsuo syndrome is characterized by elevated IOP with marked fluctuations, open angles, aqueous cells, and retinal detachment. Diagnosis is supported by electron microscopy of AC fluid with outer segments of photoreceptors. Treatment includes retinal detachment repair and antihypertensive therapy.

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