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All Journal JSM (Jurnal SIFO Mikroskil) Industrial and Systems Engineering Assessment Journal (INASEA) Syntax Literate: Jurnal Ilmiah Indonesia Journal of Economic, Bussines and Accounting (COSTING) Koneksi Jurnal Muara Sains, Teknologi, Kedokteran dan Ilmu Kesehatan Jusikom: Jurnal Sistem Informasi Ilmu Komputer PREPOTIF : Jurnal Kesehatan Masyarakat Jurnal JEETech Business Economic, Communication, and Social Sciences Journal (BECOSS) Yayasan Cita Cendikiawan Al Khwarizmi Jurnal Pengabdian kepada Masyarakat Jurnal Media Informatika Imatype: Journal of Graphic Design Studies Digital Transformation Technology (Digitech) Outline Journal of Management and Accounting Jurnal Ilmiah MEA (Manajemen, Ekonomi, dan Akuntansi) Neurona Socio-political Communication and Policy Review The Indonesian Journal of General Medicine Verdict: Journal of Law Science
Felix Felix
Binus University
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Journal : Syntax Literate: Jurnal Ilmiah Indonesia

 1 
A Case Report: A 11-Years Old Female with Retinitis Pigmentosa Vania, Vania; Faozan, Faozan; Felix, Felix
Syntax Literate Jurnal Ilmiah Indonesia
Publisher : Syntax Corporation

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.36418/syntax-literate.v9i11.16980

Abstract

Retinitis pigmentosa is a hereditary retinal neurodegenerative disease with the classic presentation of night blindness (nyctalopia), with gradual degeneration of vision until blindness). This study aims to analyze a clinical case of retinitis pigmentosa (RP) in an 11-year-old female with primary symptoms of nyctalopia, progressing visual impairment, and distinctive retinal pigmentation changes identified during funduscopy. RP is a hereditary retinal degenerative condition that commonly presents as night blindness, progressing to severe vision loss or blindness. In this case, a comprehensive physical and ophthalmic examination revealed decreased visual acuity, refractive errors, and vascular attenuation, characteristic of RP, without systemic abnormalities or familial history, classifying it as a sporadic case. Given that RP is typically inherited in autosomal dominant, autosomal recessive, or X-linked patterns, sporadic cases are rarer and require careful diagnosis. This study underscores the importance of thorough ocular assessments, particularly fundus examinations, in identifying early retinal changes in RP, as well as the challenges in diagnosis without a family history. The findings emphasize that, while RP is primarily ocular, extraocular manifestations in syndromic forms also exist. RP remains a major cause of blindness worldwide, and while emerging treatments—such as gene therapy and retinal implants—offer new potential, a standardized management protocol is yet to be established. This study advocates for continued research into targeted therapeutic options to improve outcomes and quality of life for RP patients, and highlights the need for early diagnosis and ongoing monitoring to manage disease progression effectively.
Co-Authors -, Amalia AA Sudharmawan, AA Adhanisa Hamdani, Ismi Agustiana, Intan Rizki Ahmad Hasanuddin Alvin Rajendra Rabani Andri Andri Apriyanto Halim Arya Putra Nugraha Astuty, Fuji Atmojo, Wahyu Tisno Barus, Ertina Sabarita Br. Situmorang, Zefanya Rianju Christina Eka Ciaves, Vanessa Delima Sitanggang, Delima Dewanto, Gamaliel Dian Prihatiningsih Dorie P. Kesuma Edy Fachrial Enny Yulianti, Enny FAOZAN FAOZAN Ferry Hidayat Frans Ferdinal Gede Indra Pramana Gunawan, Alexander Agung Santoso Hadison, Albert Halim, Wilbert Henny Hidajat Heri Ngarianto, Heri Heru Kurniawan Hidayat, Afrah Hutabarat, Yonatan Ida Ayu Novita, Ida Ayu Novita Ilyasa, Bani Imamul Khaira Isnandar Slamet Jeremia, jeremia Kelly Kelly Laila Dyah Kusuma Ramadhani Lowia, Stannes Maghfironia Arma Manurung, Juliana Damayanti Mario Andriaskiton Merza, Merza Muammar Rinaldi Muhamad Bintang Ramadhan Muhammad Syarief Hidayatullah Nico Nico Nigar Pandrianto Novan Wijaya Nunung Nurhasanah Nur Fa’iz Ramadhan Ohyver, Margaretha Pradilla, Febry Aji Pranata, Muhammad Yoga Pranata, Ricky Pratama, Muhammad Farid Purba, Sadvent Putri, Sekar Salsabila Setiawan Regina, Sharlene Robby, Robby Ronsen Purba Rudi Chandra Sabar Setiawidayat, Sabar Sembiring, Adrian Siahaan, Alfa Ulina Stefani Sinaga, Frans Mikael Siufui Hendrawan Solly Aryza Steven Tan, Steven Suhindra, Wahyu Sumantri, Nicholas Anthony Sutantio, Andy Tanti Tedi Erviantono Tumanggor, Windah Vania Vania Vitri, Indah Sya Wilson Wilson Yonata Laia Zakaria, Anastasia zulkifli, suhaila zulkifli