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All Journal Bioscientia Medicina : Journal of Biomedicine and Translational Research Bioscientia Medicina : Journal of Biomedicine and Translational Research Ophthalmologica Indonesiana
Junetta Airene Priskila Taba
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Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Public Health

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Management of Bilateral Ankyloblepharon with Hay-Wells Syndrome: A Rare Case Report: Poster Presentation - Case Report - Resident Junetta Airene Priskila Taba; Putu Yuliawati
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/kct3rd26

Abstract

Introduction : Ankyloblepharon is a partial or complete fusion of the eyelid margins. This condition can be found as a common manifestation of Hay-Wells Syndrome along with lip and/or palate cleft and ectodermal dysplasia. This is an extremely rare case report demonstrating management of ankyloblepharon with Hay-Wells Syndrome. Case Illustration : A 5-day-old baby consulted from the Neonatal Intensive Care Unit (NICU) with multiple congenital abnormalities. The baby was born preterm (32 weeks) by C-section due to fetal malpresentation with low birth weight (1545 gram). There was no family history of congenital anomalies. Ocular examination revealed a partial ankyloblepharon on both eyes. The baby was also found with labiognatopalatoschizis, microtia, hyperkeratotic skin and nail dystrophy. Then, we planned to do an eyelid separation procedure at the NICU using only sterile conjunctival scissors with drops of Pantocaine 2%. Gentamicin eye ointment three times daily was prescribed. After the procedure, we can do a proper evaluation of the eye. Discussion : Hay-Wells Syndrome is a rare autosomal dominant disorder. This condition characterized by various congenital abnormalities such as ankyloblepharon, lip and/or palate cleft, and also other abnormalities involving the skin, hair, teeth, nails, and sweat glands. The management of ankyloblepharon can be done easily by excised the webs of skin that connecting the eyelid margins with topical anesthesia. The purpose of this management is mainly to prevent the risk of the development of deprivation amblyopia. Conclusion : Congenital ankyloblepharon has the potential to cause deprivation amblyopia. An immediate management is needed to provide a good prognosis regarding the visual development
Ocular Involvement as the Primary Presentation of Suspected Systemic Lupus Erythematosus: A Case of Bilateral Papilledema and Macular Edema Junetta Airene Priskila Taba; Anak Agung Mas Putrawati Triningrat; Made Paramita Wijayati; I Made Agus Kusumadjaja
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 9 No. 6 (2025): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v9i6.1303

Abstract

Background: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease known for its varied clinical presentations, often affecting multiple organ systems. Ocular involvement is common in SLE, but posterior segment manifestations like papilledema are rare, occurring in only about 1% of SLE patients. This case report details a unique instance of bilateral papilledema and macular edema as the primary presentation of suspected SLE in a young female patient. Case presentation: A 24-year-old female presented with a one-week history of sudden-onset blurry vision in both eyes. Ophthalmological examination revealed reduced visual acuity (6/45 in both eyes), bilateral optic disc swelling, and macular edema. Further investigations, including Optical Coherence Tomography (OCT) and Magnetic Resonance Imaging (MRI), confirmed macular edema and optic nerve sheath distention. A positive Antinuclear Antibody (ANA) test suggested an autoimmune etiology. Lumbar puncture results were normal, ruling out idiopathic intracranial hypertension. The patient was diagnosed with bilateral papilledema and macular edema, with suspected underlying SLE. Prompt treatment with high-dose corticosteroids and acetazolamide led to significant clinical improvement. Conclusion: This case highlights the rarity of bilateral papilledema and macular edema as initial presenting features of suspected SLE. It emphasizes the importance of thorough ophthalmological examination and relevant investigations in patients with sudden vision loss. Early recognition of such rare presentations is crucial to prevent potentially sight-threatening complications. This case underscores the need for a multidisciplinary approach for accurate diagnosis and management of complex presentations of systemic autoimmune diseases.
Ocular Involvement as the Primary Presentation of Suspected Systemic Lupus Erythematosus: A Case of Bilateral Papilledema and Macular Edema Junetta Airene Priskila Taba; Anak Agung Mas Putrawati Triningrat; Made Paramita Wijayati; I Made Agus Kusumadjaja
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 9 No. 6 (2025): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v9i6.1303

Abstract

Background: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease known for its varied clinical presentations, often affecting multiple organ systems. Ocular involvement is common in SLE, but posterior segment manifestations like papilledema are rare, occurring in only about 1% of SLE patients. This case report details a unique instance of bilateral papilledema and macular edema as the primary presentation of suspected SLE in a young female patient. Case presentation: A 24-year-old female presented with a one-week history of sudden-onset blurry vision in both eyes. Ophthalmological examination revealed reduced visual acuity (6/45 in both eyes), bilateral optic disc swelling, and macular edema. Further investigations, including Optical Coherence Tomography (OCT) and Magnetic Resonance Imaging (MRI), confirmed macular edema and optic nerve sheath distention. A positive Antinuclear Antibody (ANA) test suggested an autoimmune etiology. Lumbar puncture results were normal, ruling out idiopathic intracranial hypertension. The patient was diagnosed with bilateral papilledema and macular edema, with suspected underlying SLE. Prompt treatment with high-dose corticosteroids and acetazolamide led to significant clinical improvement. Conclusion: This case highlights the rarity of bilateral papilledema and macular edema as initial presenting features of suspected SLE. It emphasizes the importance of thorough ophthalmological examination and relevant investigations in patients with sudden vision loss. Early recognition of such rare presentations is crucial to prevent potentially sight-threatening complications. This case underscores the need for a multidisciplinary approach for accurate diagnosis and management of complex presentations of systemic autoimmune diseases.
Co-Authors Anak Agung Mas Putrawati Triningrat Made Agus Kusumadjaja Made Paramita Wijayati Putu Yuliawati