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All Journal JKKI : Jurnal Kedokteran dan Kesehatan Indonesia Ophthalmologica Indonesiana
Elsyanty, Firda Muthia
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Health Professions Medicine & Pharmacology Public Health

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Ocular Manifestations of Von Hippel-Lindau Disease: a Rare Sight- Threatening Condition: Poster Presentation - Case Report - Resident Elsyanty, Firda Muthia; Widyanatha, Made Indra; Ihsan, Grimaldi; Virgana, Rova; Iskandar, Erwin; Kartasasmita, Arief S.
Majalah Oftalmologi Indonesia Vol 49 No S2 (2023): Supplement Edition
Publisher : The Indonesian Ophthalmologists Association (IOA, Perhimpunan Dokter Spesialis Mata Indonesia (Perdami))

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.35749/hc3z9k23

Abstract

Introduction : Von Hippel-Lindau (VHL) disease is a rare phacomatosis characterized by multi-organ neoplasia which usually manifests in young adulthood. Ocular manifestations of this disease are frequently presented initially before the involvement of other organ systems. Case Illustration : An 18-year-old girl came with a chief complaint of photopsia in the left eye and complete vision loss in the right eye for five years. The visual acuity of the right eye was no light perception and the left eye was 0.8. The anterior segment of the right eye showed iris neovascularization. The posterior segment of the left eye demonstrated multiple elevated red-yellowish lesions fed by a dilated and tortuous vessel. The head CT scan revealed multiple lesions at the pons and cerebellum. The patient was diagnosed with multiple retinal and brain hemangioblastomas due to VHL disease, neovascular glaucoma, and chronic retinal detachment of the right eye due to sequelae of VHL. The patient was treated with cryotherapy and laser photocoagulation of the left eye. Five-month post-cryotherapy follow-up showed the lesions were still active then she underwent the second cryotherapy. The lesions became whitish in appearance with smaller feeder vessels one month after the second cryotherapy and the visual acuity was preserved. Discussion : Retinal hemangioblastoma is the most common ocular manifestation of VHL disease. Prolonged ischemia causes sight-threatening complications including neovascular glaucoma and exudative retinal detachment. Prompt treatment of detected lesions is crucial for visual preservation. Conclusion : Early detection of VHL ocular manifestations plays a critical role in establishing the diagnosis and initiating treatment for a better prognosis.
The diagnostic challenge of orbital tuberculosis in an otherwise healthy individual: A case report Kartiwa, Raden Angga; Elsyanty, Firda Muthia; Setiawan, Grace; Dewi, Niluh Putu Ayu; Boesoirie, Shanti Fitrianti; Dahlan, Mohammad Rinaldi
JKKI : Jurnal Kedokteran dan Kesehatan Indonesia JKKI, Vol 15, No 3, (2024)
Publisher : Faculty of Medicine, Universitas Islam Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20885/JKKI.Vol15.Iss3.art15

Abstract

Ocular tuberculosis occurs in 1.5-18% of all extrapulmonary tuberculosis cases, with orbital tuberculosis being a very small proportion of all cases of ocular tuberculosis. High variability of manifestations of orbital tuberculosis may result in delayed diagnosis. Children are the populations most affected by this disease. This study aims to report a case of orbital tuberculosis in a patient without systemic tuberculosis symptoms. We presents a 13-year-old girl who is reported protrusion of the right eye for four months. She complained diplopia and pain in the right eye radiating to the head. She reported no other systemic symptoms. Ophthalmological examination revealed that her best corrected visual acuity of the right eye was 0.25, and the left eye was 1.0. The movement of the right eye was limited to the superior, temporal, and nasal directions. Anterior segment examinations demonstrated proptosis of the right eye with 3 mm of lagophthalmos. The patient then underwent an orbitotomy and biopsy procedure. Histopathological analysis revealed chronic granulomatous inflammation with Langerhans cells, indicative of tuberculosis. The patient was diagnosed with proptosis of the right eye and multiple cranial nerve palsy due to orbital tuberculosis. The patient was subsequently prescribed an antituberculosis treatment and attended regular monthly follow-ups. Ten months after surgery and completed antituberculosis treatment, the proptosis improves and there is no further growth of the mass. Orbital tuberculosis is a rare condition and is often challenging to diagnose, particularly in healthy individuals. Thorough history taking, physical examination, and ancillary testing are essential to establish an accurate diagnosis. This case emphasizes the necessity for heightened suspicion of tuberculosis in atypical presentations, particularly in pediatric patients in endemic areas, to prevent morbidity and ensure timely treatment.
Co-Authors Arief S. Kartasasmita Boesoirie, Shanti Fitrianti Dahlan, Mohammad Rinaldi Dewi, Niluh Putu Ayu Ihsan, Grimaldi Iskandar, Erwin Kartiwa, Raden Angga Rova Virgana Setiawan, Grace Widyanatha, Made Indra