RESUMEN
BACKGROUND: Warburg-Cinotti syndrome is a rare syndrome caused by de novo or inherited variants in discoding domain receptor tyrosine kinase 2 (DDR2). Only six cases have been reported worldwide and our knowledge of this disease remained sparse especially from an ophthalmological perspective, since previous literature mostly focused on systemic malformations or genetics. CASE PRESENTATION: A seven-year-old boy developed a gelatinous vascularized conjunctiva-like mass secondary to trauma. The mass enlarged and gradually invaded the cornea. With each surgical intervention, the mass recurred and grew even larger rapidly. The patient ended up with the mass covering the entire cornea along with symblepharon formation. Whole exome sequencing revealed a hemizygous variant in the DDR2 gene, which is consistent with Warburg-Cinotti syndrome. CONCLUSIONS: Considering Warburg-Cinotti syndrome, we should be vigilant of patients exhibiting progressive conjunctival invasion of the cornea, even those without systemic manifestations or a positive family history.
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Enfermedades de la Córnea , Humanos , Masculino , Niño , Enfermedades de la Córnea/diagnóstico , Enfermedades de la Córnea/patología , Conjuntiva/patología , Conjuntiva/anomalías , Córnea/patología , Córnea/anomalías , Enfermedades de la Conjuntiva/diagnóstico , Enfermedades de la Conjuntiva/genética , Enfermedades de la Conjuntiva/patologíaRESUMEN
This case report describes a diagnosis of conjunctival Kaposi sarcoma in a patient recently diagnosed with HIV infection and taking highly active antiretroviral therapy.
Asunto(s)
Infecciones por VIH , Humanos , Infecciones por VIH/diagnóstico , Infecciones por VIH/complicaciones , Masculino , Enfermedades de la Conjuntiva/diagnóstico , Enfermedades de la Conjuntiva/virología , Conjuntiva/patología , AdultoRESUMEN
OBJECTIVE: To examine the clinical characteristics, diagnosis and treatment, and prognosis of ocular amyloidosis in a Chinese population. METHODS: A retrospective case series study was conducted. The clinical data of 37 patients with ocular amyloidosis were collected and the clinical characteristics, diagnosis and treatment, and prognosis were summarized and analyzed. RESULTS: The 37 patients included 12 males and 25 females ranging in age from 22 to 75 years, with median age of 49 years. The clinical signs and symptoms included a conjunctival mass in 37 patients (100%), periorbital discomfort or pain in 29 patients (61.9%), ptosis in 18 patients (23.8%), exophthalmos or eyeball displacement in 3 patients (14.3%), restricted eye movement in 2 patients (9.52%), vision loss in 1 patient (4.76%), and diplopia in 1 patient (4.76%). A total of 29 patients had only conjunctival involvement and 8 patients had concomitant orbital and conjunctival involvement. The main treatment for patients with conjunctival involvement was surgical resection. Thirty-one patients had stable disease, 4 patients progressed or relapsed, and 2 patients were lost to follow-up. CONCLUSION: Ocular amyloidosis most commonly presents as an eyelid or conjunctival mass or diffuse thickening and can also present as an orbital mass. Diagnosis is mainly dependent on histopathological examination. Surgery is the main treatment and is done to confirm the diagnosis to guide further treatment, preserve function, and prevent complications that threaten visual acuity. Close postoperative follow-up is necessary.
Asunto(s)
Amiloidosis , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Amiloidosis/diagnóstico , China/epidemiología , Enfermedades de la Conjuntiva/diagnóstico , Enfermedades de la Conjuntiva/epidemiología , Pueblos del Este de Asia , Pronóstico , Estudios Retrospectivos , Agudeza Visual/fisiologíaRESUMEN
A 40-year-old man presented with recurrent ocular surface masses in his left eye persisting for over a year. Despite undergoing resection of the conjunctival mass and receiving anti-inflammatory treatment at another hospital, the mass reappeared within a week post-surgery. Over the past 6 months, the mass gradually increased in size, accompanied by a decline in vision. Following conjunctival mass excision combined with amniotic membrane transplantation at Beijing Tongren Hospital, Capital Medical University, histopathological examination revealed a fungal infection of the conjunctiva, resulting in a diagnosis of fungal conjunctivitis and conjunctival granuloma in the left eye. The patient received systemic antifungal medications and local therapy, resulting in a stable condition with no recurrence of the mass.
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Infecciones Fúngicas del Ojo , Humanos , Masculino , Adulto , Infecciones Fúngicas del Ojo/diagnóstico , Conjuntiva/patología , Enfermedades de la Conjuntiva/diagnóstico , Enfermedades de la Conjuntiva/microbiología , Recurrencia , Conjuntivitis/diagnóstico , Conjuntivitis/microbiología , Granuloma/diagnóstico , Antifúngicos/uso terapéuticoRESUMEN
Objectives: To report ocular manifestations in patients with Fabry disease (FD) from a tertiary eye care center in Türkiye. Materials and Methods: This prospective, cross-sectional study included 30 eyes of 15 patients with FD. The diagnosis of FD was made based on a combination of clinical findings, genetic analysis, and biochemical evaluation. All participants underwent a detailed ophthalmic examination with special focus on the typical ocular features of FD (cornea verticillata, conjunctival aneurysms, cataract, retinal vessel tortuosity). Results: The mean age was 45±17 years (range: 22-75 years), with a female/male ratio of 2:3. All patients had tortuous conjunctival vessels and 12 patients (80%) had conjunctival aneurysms. Cornea verticillata was present in 10 patients (66.6%), lens opacification in 4 patients (26.6%), and retinal vascular tortuosity in 8 patients (53.3%). All patients had at least two different ocular findings; most (3 heterozygotes/7 hemizygotes) had a combination of corneal verticillata and conjunctival vessel abnormality. The conjunctiva, cornea, and retina were affected together in 5 hemizygous patients (33.3%). One hemizygous patient had all FDrelated ocular manifestations in both eyes. Conclusion: To our knowledge, this study is the first to describe the ocular manifestations of FD in the Turkish population. Although cornea verticillata is considered a hallmark of FD, it was absent in approximately one-third of patients. Moreover, cataract, another well-known feature of FD, was present in only 26.6% of the patients. Conjunctival vascular abnormality alone seems to be quite rare in FD, although it often accompanies other ocular manifestations. Therefore, recognition of other mild findings and special consideration of their associations may increase the diagnostic value of ocular findings in FD.
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Enfermedad de Fabry , Centros de Atención Terciaria , Humanos , Enfermedad de Fabry/complicaciones , Enfermedad de Fabry/diagnóstico , Femenino , Masculino , Adulto , Persona de Mediana Edad , Estudios Transversales , Estudios Prospectivos , Anciano , Adulto Joven , Turquía/epidemiología , Conjuntiva/patología , Conjuntiva/irrigación sanguínea , Oftalmopatías/etiología , Oftalmopatías/diagnóstico , Agudeza Visual , Córnea/patología , Enfermedades de la Conjuntiva/etiología , Enfermedades de la Conjuntiva/diagnósticoRESUMEN
A man in his late 50s presented with a gradually enlarging, painless, reddish mass on the white portion of his left eye for 2 weeks. His best-corrected visual acuity was 20/20 in both eyes. Slit-lamp examination showed a congested, nodular, elevated lesion on the temporal bulbar conjunctiva with two pustule-like elevations. Anterior segment optical coherence tomography showed a subconjunctival solid mass rather than an abscess or a cyst. Scleral deroofing was performed and a long thread-like object resembling a dead worm was identified. The worm was removed intact, and its histopathology confirmed the diagnosis of Dirofilaria Peripheral blood smear did not show any microfilariae. No recurrences or new lesions were observed during the follow-up examinations at 1 and 5 months post-surgery. This case highlights the importance of considering a parasitic aetiology in cases of nodular or infectious scleritis.
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Dirofilariasis , Infecciones Parasitarias del Ojo , Escleritis , Humanos , Masculino , Escleritis/diagnóstico , Dirofilariasis/diagnóstico , Dirofilariasis/cirugía , Persona de Mediana Edad , Diagnóstico Diferencial , Infecciones Parasitarias del Ojo/diagnóstico , Infecciones Parasitarias del Ojo/cirugía , Animales , Dirofilaria/aislamiento & purificación , Tomografía de Coherencia Óptica , Enfermedades de la Conjuntiva/diagnóstico , Enfermedades de la Conjuntiva/parasitología , Conjuntiva/parasitología , Conjuntiva/patologíaAsunto(s)
Enfermedades de la Conjuntiva , Dirofilariasis , Infecciones Parasitarias del Ojo , Animales , Humanos , Dirofilariasis/diagnóstico , Dirofilariasis/cirugía , Enfermedades de la Conjuntiva/diagnóstico , Infecciones Parasitarias del Ojo/diagnóstico , Infecciones Parasitarias del Ojo/cirugía , DirofilariaRESUMEN
PURPOSE: To evaluate the correlation between clinical tests, patient symptoms, and conjunctivochalasis in contact lens wearers and non-wearers. METHODS: This study comprised 40 eyes of 40 current soft contact lens users and 40 eyes of 40 control subjects. Cross-sectional areas of conjunctivochalasis at three locations (nasal, central, temporal) during straight and downward gazes were determined using anterior segment optical coherence tomography in all participants. Tear film break up time test and Schirmer test with anesthesia were performed and for evaluation of symptoms, the participants completed ocular surface disease index questionnaire. RESULTS: During straight gaze, the mean cross-sectional areas of conjunctivochalasis were 0.0112 ± 0.009 and 0.006 ± 0.005 mm2 at nasal, 0.0096 ± 0.007 and 0.002 ± 0.004 mm2 at central, 0.0176 ± 0.014 and 0.008 ± 0.009 mm2 at temporal in contact lens and control groups, respectively. Regardless of location and gaze direction, the mean cross-sectional conjunctivachalasis areas of the contact lens group were significantly higher than those of the controls (all, p < 0.05). Significant positive correlations between ocular surface disease index score and measured conjunctivachalasis areas (in all sites) during straight gaze and downward gaze were observed in the contact lens group (all, p < 0.05 and r > 0.450). CONCLUSION: Wearing soft contact lenses is associated with increased conjunctivochalasis areas. Anterior segment optical coherence tomography determined conjunctivochalasis area is an objective clinical measurement value that is positively correlated with patients' symptoms in soft contact lens wearers.
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Enfermedades de la Conjuntiva , Lentes de Contacto Hidrofílicos , Humanos , Enfermedades de la Conjuntiva/diagnóstico , Enfermedades de la Conjuntiva/epidemiología , Enfermedades de la Conjuntiva/etiología , Lentes de Contacto Hidrofílicos/efectos adversos , Ojo , Tomografía de Coherencia Óptica , LágrimasRESUMEN
PURPOSE: To report an atypical presentation of an epibulbar simple cartilaginous choristoma with a unique pigmented multicystic component. CASE DESCRIPTION: A 69-year-old African American female presented for evaluation of a right nasal epibulbar lesion that had progressed over the prior year. Slit-lamp evaluation revealed an immobile, mildly pigmented multicystic lesion measuring 6.0 × 4.5 mm that involved the nasal bulbar conjunctiva and the plica semilunaris. The lesion appeared benign, without feeder vessels or features of epithelial dysplasia. Given its recent growth and the patient's cosmetic concerns, the lesion was excised with ocular surface reconstruction. Histopathological evaluation disclosed a well-circumscribed nodule of well-differentiated cartilage in the substantia propria, consistent with a simple cartilaginous choristoma. The overlying conjunctival stroma contained multiple cysts lined by focally pigment epithelium. The patient recovered well from surgery, with satisfactory cosmetic results. CONCLUSIONS: Our case of epibulbar simple cartilaginous choristoma includes a prominent superficial component of pigmented epithelial cysts, which has not been previously reported in the literature. This augments our knowledge on the spectrum of presentations of cartilaginous choristomas and underscores the importance of histopathological evaluation for definitive diagnosis.
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Coristoma , Humanos , Coristoma/diagnóstico , Coristoma/patología , Coristoma/cirugía , Femenino , Anciano , Enfermedades de la Conjuntiva/diagnóstico , Enfermedades de la Conjuntiva/cirugía , Cartílago/patología , Quistes/diagnóstico , Quistes/cirugía , Conjuntiva/patología , Procedimientos Quirúrgicos Oftalmológicos , Epitelio Pigmentado Ocular/patologíaAsunto(s)
Enfermedades de la Conjuntiva , Quistes , Glaucoma , Trabeculectomía , Humanos , Trabeculectomía/efectos adversos , Enfermedades de la Conjuntiva/diagnóstico , Enfermedades de la Conjuntiva/etiología , Glaucoma/diagnóstico , Glaucoma/cirugía , Ojo , Quistes/diagnóstico , Quistes/etiología , Quistes/cirugía , Conjuntiva/cirugía , Presión IntraocularRESUMEN
PURPOSE: To evaluate ocular surface involvement, tear cytokine levels, and histopathological changes in pemphigus and pemphigoid patients. METHODS: A total of 22 patients (15 pemphigus and 7 pemphigoids) and 21 non-diseased controls were enrolled in our study. All participants underwent ocular surface evaluation, which included ocular surface disease index test, slit lamp observation, dry eye-related examination, tear multicytokine analysis, and conjunctival impression cytology. RESULTS: Pemphigus and pemphigoid patients presented much more severe conjunctivochalasis, corneal epithelial defects, corneal opacity, symblepharon and dry eye. Severe ocular surface squamous metaplasia and a significant increase of tear macrophage inflammatory protein-1beta, tumor necrosis factor-alpha, interleukin (IL)-1ß, IL -6, and IL-8 occurred in pemphigus and pemphigoid patients. CONCLUSIONS: Our results revealed that ocular surface inflammation and dry eye persist in most pemphigus and pemphigoid patients, and do not occur in parallel with the systemic course. Regular ophthalmological examinations and local anti-inflammatory should be provided for pemphigus and pemphigoid patients.
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Enfermedades de la Conjuntiva , Síndromes de Ojo Seco , Penfigoide Ampolloso , Pénfigo , Humanos , Penfigoide Ampolloso/complicaciones , Penfigoide Ampolloso/diagnóstico , Pénfigo/complicaciones , Pénfigo/diagnóstico , Síndromes de Ojo Seco/diagnóstico , Síndromes de Ojo Seco/etiología , Síndromes de Ojo Seco/patología , Enfermedades de la Conjuntiva/diagnóstico , Enfermedades de la Conjuntiva/etiología , Conjuntiva/patología , Lágrimas , Interleucina-1beta , Inflamación/diagnóstico , Inflamación/patologíaRESUMEN
PURPOSE: The aim of this study was to evaluate the efficacy of plasma-based conjunctivoplasty as a new surgical approach for conjunctivochalasis. METHODS: This prospective, noncomparative, interventional study included research on 42 eyes of 33 patients who underwent plasma therapy because of conjunctivochalasis between February 2020 and December 2021. Maintaining a 2-mm distance from the limbus, at least 3 lines (approximately 2 mm deep) of plasma therapy were applied to the conjunctiva from the temporal quadrant to the nasal quadrant. Patient symptoms, the fluorescein clearance test, ocular surface integrity with fluorescein staining, the Ocular Surface Disease Index questionnaire, tear breakup time (TBUT), tear meniscus height, and complications were evaluated. RESULTS: The mean patient age at the time of surgery was 67.3 ± 7.2 (range: 54-81) years. After surgery, the grades of conjunctivochalasis decreased in all patients. Although epiphora was present in 28 eyes (66.6%) preoperatively, none of the cases had epiphora during the follow-up period. The Ocular Surface Disease Index score improved significantly from 34.7 ± 10.3 preoperatively to 5.0 ± 4.2 3 months postoperatively ( P <0.001). Although the preoperative TBUT was 5.1 ± 2.2 seconds, the TBUT increased to 10.0 ± 2.3 seconds 3 months postoperatively ( P <0.001). Chemosis developed in only 1 eye (2.3%) and completely regressed with topical steroid treatment in the first postoperative week. CONCLUSIONS: Plasma-based conjunctivoplasty is a minimally invasive and simple surgery with less intraoperative and postoperative discomfort, a fast recovery, and can be suggested as an alternative approach to other treatment methods.
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Enfermedades de la Conjuntiva , Síndromes de Ojo Seco , Enfermedades del Aparato Lagrimal , Humanos , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Estudios Prospectivos , Enfermedades de la Conjuntiva/cirugía , Enfermedades de la Conjuntiva/diagnóstico , Conjuntiva/cirugía , Lágrimas , Fluoresceínas , Síndromes de Ojo Seco/etiologíaAsunto(s)
Enfermedades de la Conjuntiva , Neoplasias de la Conjuntiva , Melanoma , Melanosis , Neoplasias Cutáneas , Humanos , Melanoma/diagnóstico , Piel/patología , Neoplasias Cutáneas/diagnóstico , Enfermedades de la Conjuntiva/diagnóstico , Melanosis/diagnóstico , Neoplasias de la Conjuntiva/diagnóstico , Neoplasias de la Conjuntiva/patologíaRESUMEN
PURPOSE: The aim of this study was to describe a rare case of conjunctival black henna accumulation that was clinically misdiagnosed as melanoma. METHODS: This retrospective case report reviewed the clinical findings and histopathologic features of a pigmented plica semilunaris lesion excised from a 63-year-old woman. The patient had a history of regular use of black henna in her childhood. The conjunctival pigmentation was present since her early teenage years but started to grow only recently. RESULTS: There was a darkly pigmented mass mainly covering the plica semilunaris of the right eye with additional irregularly scattered pigmentation in the medial bulbar conjunctiva. Excisional biopsy of the plical tumor revealed nodular pigment deposits with lymphocytic infiltration. There were no neoplastic cells. The specimen stained negative for pan-keratin, CD68, and CD34. Melanin bleaching was also negative. CONCLUSIONS: Long-term exposure to black henna as a hair dye may lead to subconjunctival accumulation and mimic melanoma.