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1. Anterior ischemic optic neuropathy due to biopsy-proven giant cell arteritis in Thai patients

Author

Attaseth T, Vanikieti K, Poonyathalang A, Preechawat P, Jindahra P, and Wattanatranon D

Subjects
Ophthalmology, RE1-994
Abstract

Taweevat Attaseth,1 Kavin Vanikieti,1 Anuchit Poonyathalang,1 Pisit Preechawat,1 Panitha Jindahra,2 Duangkamon Wattanatranon3 1Department of Ophthalmology, 2Department of Medicine, 3Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand Abstract: Giant cell arteritis is a systemic granulomatous vasculitis affecting medium to large arteries. An arteritic anterior ischemic optic neuropathy is the most common cause of permanent visual loss. Giant cell arteritis is very rare among Asians. We report six patients with biopsy-proven arteritic anterior ischemic optic neuropathy. Demographic data, clinical manifestations, laboratory findings, treatment, and visual outcome are described in detail and compared with Caucasian patients. We found no differences in any clinical features except for sex preference. Moreover, perioptic nerve sheath enhancement was observed in half of our patients. Keywords: giant cell arteritis, temporal artery biopsy, perioptic nerve sheath enhancement, choroidal ischemia, Asian

Published
2015

2. Global Retinoblastoma Presentation and Analysis by National Income Level

Author

Fabian, ID, Abdallah, E, Abdullahi, SU, Abdulqader, RA, Boubacar, SA, Ademola-Popoola, DS, Adio, A, Afshar, AR, Aggarwal, P, Aghaji, AE, Ahmad, A, Akib, MNR, Al Harby, L, Al Ani, MH, Alakbarova, A, Portabella, SA, Al-Badri, SAF, Alcasabas, APA, Al-Dahmash, SA, Alejos, A, Alemany-Rubio, E, Bio, AIA, Carreras, YA, Al-Haddad, C, Al-Hussaini, HHY, Ali, AM, Alia, DB, Al-Jadiry, MF, Al-Jumaly, U, Alkatan, HM, All-Eriksson, C, Al-Mafrachi, AARM, Almeida, AA, Alsawidi, KM, Al-Shaheen, AASM, Al-Shammary, EH, Amiruddin, PO, Antonino, R, Astbury, NJ, Atalay, HT, Atchaneeyasakul, L-O, Atsiaya, R, Attaseth, T, Aung, TH, Ayala, S, Baizakova, B, Balaguer, J, Balayeva, R, Balwierz, W, Barranco, H, Bascaran, C, Popovic, MB, Benavides, R, Benmiloud, S, Guebessi, NB, Berete, RC, Berry, JL, Bhaduri, A, Bhat, S, Biddulph, SJ, Biewald, EM, Bobrova, N, Boehme, M, Boldt, HC, Bonanomi, MTBC, Bornfeld, N, Bouda, GC, Bouguila, H, Boumedane, A, Brennan, RC, Brichard, BG, Buaboonnam, J, Calderon-Sotelo, P, Calle Jara, DA, Camuglia, JE, Cano, MR, Capra, M, Cassoux, N, Castela, G, Castillo, L, Catala-Mora, J, Chantada, GL, Chaudhry, S, Chaugule, SS, Chauhan, A, Chawla, B, Chernodrinska, VS, Chiwanga, FS, Chuluunbat, T, Cieslik, K, Cockcroft, RL, Comsa, C, Correa, ZM, Correa Llano, MG, Corson, TW, Cowan-Lyn, KE, Csoka, M, Cui, X, Da Gama, I, Dangboon, W, Das, A, Das, S, Davanzo, JM, Davidson, A, De Potter, P, Delgado, KQ, Demirci, H, Desjardins, L, Diaz Coronado, RY, Dimaras, H, Dodgshun, AJ, Donaldson, C, Donato Macedo, CR, Dragomir, MD, Du, Y, Du Bruyn, M, Edison, KS, Sutyawan, IWE, El Kettani, A, Elbahi, AM, Elder, JE, Elgalaly, D, Elhaddad, AM, Elhassan, MMA, Elzembely, MM, Essuman, VA, Evina, TGA, Fadoo, Z, Fandino, AC, Faranoush, M, Fasina, O, Fernandez, DDPG, Fernandez-Teijeiro, A, Foster, A, Frenkel, S, Fu, LD, Fuentes-Alabi, SL, Gallie, BL, Gandiwa, M, Garcia, JL, Garcia Aldana, D, Gassant, PY, Geel, JA, Ghassemi, F, Giron, A, Gizachew, Z, Goenz, MA, Gold, AS, Goldberg-Lavid, M, Gole, GA, Gomel, N, Gonzalez, E, Gonzalez Perez, G, Gonzalez-Rodriguez, L, Garcia Pacheco, HN, Graells, J, Green, L, Gregersen, PA, Grigorovski, NDAK, Guedenon, KM, Gunasekera, DS, Gunduz, AK, Gupta, H, Gupta, S, Hadjistilianou, T, Hamel, P, Hamid, SA, Hamzah, N, Hansen, ED, Harbour, JW, Hartnett, ME, Hasanreisoglu, M, Hassan, S, Hederova, S, Hernandez, J, Carcamo Hernandez, LM, Hessissen, L, Hordofa, DF, Huang, LC, Hubbard, GB, Hummlen, M, Husakova, K, Al-Janabi, ANH, Ida, R, Ilic, VR, Jairaj, V, Jeeva, I, Jenkinson, H, Ji, X, Jo, DH, Johnson, KP, Johnson, WJ, Jones, MM, Kabesha, TBA, Kabore, RL, Kaliki, S, Kalinaki, A, Kantar, M, Kao, L-Y, Kardava, T, Kebudi, R, Kepak, T, Keren-Froim, N, Khan, ZJ, Khaqan, HA, Khauv, P, Kheir, WJ, Khetan, V, Khodabande, A, Khotenashvili, Z, Kim, JW, Kim, JH, Kiratli, H, Kivela, TT, Klett, A, Palet, JEKK, Krivaitiene, D, Kruger, M, Kulvichit, K, Kuntorini, MW, Kyara, A, Lachmann, ES, Lam, CPS, Lam, GC, Larson, SA, Latinovic, S, Laurenti, KD, Le, BHA, Lecuona, K, Leverant, AA, Li, C, Limbu, B, Quah, BL, Lopez, JP, Lukamba, RM, Lumbroso, L, Luna-Fineman, S, Lutfi, D, Lysytsia, L, Magrath, GN, Mahajan, A, Majeed, AR, Maka, E, Makan, M, Makimbetov, EK, Manda, C, Martin Begue, N, Mason, L, Mason, JO, Matende, IO, Materin, M, Mattosinho, CCDS, Matua, M, Mayet, I, Mbumba, FB, McKenzie, JD, Medina-Sanson, A, Mehrvar, A, Mengesha, AA, Menon, V, Mercado, GJVD, Mets, MB, Midena, E, Mishra, DKC, Mndeme, FG, Mohamedani, AA, Mohammad, MT, Moll, AC, Montero, MM, Morales, RA, Moreira, C, Mruthyunjaya, P, Msina, MS, Msukwa, G, Mudaliar, SS, Muma, K, Munier, FL, Murgoi, G, Murray, TG, Musa, KO, Mushtaq, A, Mustak, H, Muyen, OM, Naidu, G, Nair, AG, Naumenko, L, Roth, PAN, Nency, YM, Neroev, V, Ngo, H, Nieves, RM, Nikitovic, M, Nkanga, ED, Nkumbe, H, Nuruddin, M, Nyaywa, M, Obono-Obiang, G, Oguego, NC, Olechowski, A, Oliver, SCN, Osei-Bonsu, P, Ossandon, D, Paez-Escamilla, MA, Pagarra, H, Painter, SL, Paintsil, V, Paiva, L, Pal, BP, Palanivelu, MS, Papyan, R, Parrozzani, R, Parulekar, M, Morales, CRP, Paton, KE, Pawinska-Wasikowska, K, Pe'er, J, Pena, A, Peric, S, Pham, CTM, Philbert, R, Plager, DA, Pochop, P, Polania, RA, Polyakov, VG, Pompe, MT, Pons, JJ, Prat, D, Prom, V, Purwanto, I, Qadir, AO, Qayyum, S, Qian, J, Rahman, A, Rahman, S, Rahmat, J, Rajkarnikar, P, Ramanjulu, R, Ramasubramanian, A, Ramirez-Ortiz, MA, Raobela, L, Rashid, R, Reddy, MA, Reich, E, Renner, LA, Reynders, D, Ribadu, D, Riheia, MM, Ritter-Sovinz, P, Rojanaporn, D, Romero, L, Roy, SR, Saab, RH, Saakyan, S, Sabhan, AH, Sagoo, MS, Said, AMA, Saiju, R, Salas, B, San Roman Pacheco, S, Sanchez, GL, Sayalith, P, Scanlan, TA, Schefler, AC, Schoeman, J, Sedaghat, A, Seregard, S, Seth, R, Shah, AS, Shakoor, SA, Sharma, MK, Sherief, ST, Shetye, NG, Shields, CL, Siddiqui, SN, Cheikh, SS, Silva, S, Singh, AD, Singh, N, Singh, U, Singha, P, Sitorus, RS, Skalet, AH, Soebagjo, HD, Sorochynska, T, Ssali, G, Stacey, AW, Staffieri, SE, Stahl, ED, Stathopoulos, C, Kranjc, BS, Stones, DK, Strahlendorf, C, Suarez, MEC, Sultana, S, Sun, X, Sundy, M, Superstein, R, Supriyadi, E, Surukrattanaskul, S, Suzuki, S, Svojgr, K, Sylla, F, Tamamyan, G, Tan, D, Tandili, A, Tarrillo Leiva, FF, Tashvighi, M, Tateshi, B, Tehuteru, ES, Teixeira, LF, Teh, KH, Theophile, T, Toledano, H, Trang, DL, Traore, F, Trichaiyaporn, S, Tuncer, S, Tyau-Tyau, H, Umar, AB, Unal, E, Uner, OE, Urbak, SF, Ushakova, TL, Usmanov, RH, Valeina, S, Wijsard, MVH, Varadisai, A, Vasquez, L, Vaughan, LO, Veleva-Krasteva, NV, Verma, N, Victor, AA, Viksnins, M, Villacos Chafla, EG, Vishnevskia-Dai, V, Vora, T, Wachtel, AE, Wackernagel, W, Waddell, K, Wade, PD, Wali, AH, Wang, Y-Z, Weiss, A, Wilson, MW, Wime, ADC, Wiwatwongwana, A, Wiwatwongwana, D, Dod, CW, Wongwai, P, Xiang, D, Xiao, Y, Yam, JC, Yang, H, Yanga, JM, Yaqub, MA, Yarovaya, VA, Yarovoy, AA, Ye, H, Yousef, YA, Yuliawati, P, Zapata Lopez, AM, Zein, E, Zhang, C, Zhang, Y, Zhao, J, Zheng, X, Zhilyaeva, K, Zia, N, Ziko, OAO, Zondervan, M, Bowman, R, Fabian, ID, Abdallah, E, Abdullahi, SU, Abdulqader, RA, Boubacar, SA, Ademola-Popoola, DS, Adio, A, Afshar, AR, Aggarwal, P, Aghaji, AE, Ahmad, A, Akib, MNR, Al Harby, L, Al Ani, MH, Alakbarova, A, Portabella, SA, Al-Badri, SAF, Alcasabas, APA, Al-Dahmash, SA, Alejos, A, Alemany-Rubio, E, Bio, AIA, Carreras, YA, Al-Haddad, C, Al-Hussaini, HHY, Ali, AM, Alia, DB, Al-Jadiry, MF, Al-Jumaly, U, Alkatan, HM, All-Eriksson, C, Al-Mafrachi, AARM, Almeida, AA, Alsawidi, KM, Al-Shaheen, AASM, Al-Shammary, EH, Amiruddin, PO, Antonino, R, Astbury, NJ, Atalay, HT, Atchaneeyasakul, L-O, Atsiaya, R, Attaseth, T, Aung, TH, Ayala, S, Baizakova, B, Balaguer, J, Balayeva, R, Balwierz, W, Barranco, H, Bascaran, C, Popovic, MB, Benavides, R, Benmiloud, S, Guebessi, NB, Berete, RC, Berry, JL, Bhaduri, A, Bhat, S, Biddulph, SJ, Biewald, EM, Bobrova, N, Boehme, M, Boldt, HC, Bonanomi, MTBC, Bornfeld, N, Bouda, GC, Bouguila, H, Boumedane, A, Brennan, RC, Brichard, BG, Buaboonnam, J, Calderon-Sotelo, P, Calle Jara, DA, Camuglia, JE, Cano, MR, Capra, M, Cassoux, N, Castela, G, Castillo, L, Catala-Mora, J, Chantada, GL, Chaudhry, S, Chaugule, SS, Chauhan, A, Chawla, B, Chernodrinska, VS, Chiwanga, FS, Chuluunbat, T, Cieslik, K, Cockcroft, RL, Comsa, C, Correa, ZM, Correa Llano, MG, Corson, TW, Cowan-Lyn, KE, Csoka, M, Cui, X, Da Gama, I, Dangboon, W, Das, A, Das, S, Davanzo, JM, Davidson, A, De Potter, P, Delgado, KQ, Demirci, H, Desjardins, L, Diaz Coronado, RY, Dimaras, H, Dodgshun, AJ, Donaldson, C, Donato Macedo, CR, Dragomir, MD, Du, Y, Du Bruyn, M, Edison, KS, Sutyawan, IWE, El Kettani, A, Elbahi, AM, Elder, JE, Elgalaly, D, Elhaddad, AM, Elhassan, MMA, Elzembely, MM, Essuman, VA, Evina, TGA, Fadoo, Z, Fandino, AC, Faranoush, M, Fasina, O, Fernandez, DDPG, Fernandez-Teijeiro, A, Foster, A, Frenkel, S, Fu, LD, Fuentes-Alabi, SL, Gallie, BL, Gandiwa, M, Garcia, JL, Garcia Aldana, D, Gassant, PY, Geel, JA, Ghassemi, F, Giron, A, Gizachew, Z, Goenz, MA, Gold, AS, Goldberg-Lavid, M, Gole, GA, Gomel, N, Gonzalez, E, Gonzalez Perez, G, Gonzalez-Rodriguez, L, Garcia Pacheco, HN, Graells, J, Green, L, Gregersen, PA, Grigorovski, NDAK, Guedenon, KM, Gunasekera, DS, Gunduz, AK, Gupta, H, Gupta, S, Hadjistilianou, T, Hamel, P, Hamid, SA, Hamzah, N, Hansen, ED, Harbour, JW, Hartnett, ME, Hasanreisoglu, M, Hassan, S, Hederova, S, Hernandez, J, Carcamo Hernandez, LM, Hessissen, L, Hordofa, DF, Huang, LC, Hubbard, GB, Hummlen, M, Husakova, K, Al-Janabi, ANH, Ida, R, Ilic, VR, Jairaj, V, Jeeva, I, Jenkinson, H, Ji, X, Jo, DH, Johnson, KP, Johnson, WJ, Jones, MM, Kabesha, TBA, Kabore, RL, Kaliki, S, Kalinaki, A, Kantar, M, Kao, L-Y, Kardava, T, Kebudi, R, Kepak, T, Keren-Froim, N, Khan, ZJ, Khaqan, HA, Khauv, P, Kheir, WJ, Khetan, V, Khodabande, A, Khotenashvili, Z, Kim, JW, Kim, JH, Kiratli, H, Kivela, TT, Klett, A, Palet, JEKK, Krivaitiene, D, Kruger, M, Kulvichit, K, Kuntorini, MW, Kyara, A, Lachmann, ES, Lam, CPS, Lam, GC, Larson, SA, Latinovic, S, Laurenti, KD, Le, BHA, Lecuona, K, Leverant, AA, Li, C, Limbu, B, Quah, BL, Lopez, JP, Lukamba, RM, Lumbroso, L, Luna-Fineman, S, Lutfi, D, Lysytsia, L, Magrath, GN, Mahajan, A, Majeed, AR, Maka, E, Makan, M, Makimbetov, EK, Manda, C, Martin Begue, N, Mason, L, Mason, JO, Matende, IO, Materin, M, Mattosinho, CCDS, Matua, M, Mayet, I, Mbumba, FB, McKenzie, JD, Medina-Sanson, A, Mehrvar, A, Mengesha, AA, Menon, V, Mercado, GJVD, Mets, MB, Midena, E, Mishra, DKC, Mndeme, FG, Mohamedani, AA, Mohammad, MT, Moll, AC, Montero, MM, Morales, RA, Moreira, C, Mruthyunjaya, P, Msina, MS, Msukwa, G, Mudaliar, SS, Muma, K, Munier, FL, Murgoi, G, Murray, TG, Musa, KO, Mushtaq, A, Mustak, H, Muyen, OM, Naidu, G, Nair, AG, Naumenko, L, Roth, PAN, Nency, YM, Neroev, V, Ngo, H, Nieves, RM, Nikitovic, M, Nkanga, ED, Nkumbe, H, Nuruddin, M, Nyaywa, M, Obono-Obiang, G, Oguego, NC, Olechowski, A, Oliver, SCN, Osei-Bonsu, P, Ossandon, D, Paez-Escamilla, MA, Pagarra, H, Painter, SL, Paintsil, V, Paiva, L, Pal, BP, Palanivelu, MS, Papyan, R, Parrozzani, R, Parulekar, M, Morales, CRP, Paton, KE, Pawinska-Wasikowska, K, Pe'er, J, Pena, A, Peric, S, Pham, CTM, Philbert, R, Plager, DA, Pochop, P, Polania, RA, Polyakov, VG, Pompe, MT, Pons, JJ, Prat, D, Prom, V, Purwanto, I, Qadir, AO, Qayyum, S, Qian, J, Rahman, A, Rahman, S, Rahmat, J, Rajkarnikar, P, Ramanjulu, R, Ramasubramanian, A, Ramirez-Ortiz, MA, Raobela, L, Rashid, R, Reddy, MA, Reich, E, Renner, LA, Reynders, D, Ribadu, D, Riheia, MM, Ritter-Sovinz, P, Rojanaporn, D, Romero, L, Roy, SR, Saab, RH, Saakyan, S, Sabhan, AH, Sagoo, MS, Said, AMA, Saiju, R, Salas, B, San Roman Pacheco, S, Sanchez, GL, Sayalith, P, Scanlan, TA, Schefler, AC, Schoeman, J, Sedaghat, A, Seregard, S, Seth, R, Shah, AS, Shakoor, SA, Sharma, MK, Sherief, ST, Shetye, NG, Shields, CL, Siddiqui, SN, Cheikh, SS, Silva, S, Singh, AD, Singh, N, Singh, U, Singha, P, Sitorus, RS, Skalet, AH, Soebagjo, HD, Sorochynska, T, Ssali, G, Stacey, AW, Staffieri, SE, Stahl, ED, Stathopoulos, C, Kranjc, BS, Stones, DK, Strahlendorf, C, Suarez, MEC, Sultana, S, Sun, X, Sundy, M, Superstein, R, Supriyadi, E, Surukrattanaskul, S, Suzuki, S, Svojgr, K, Sylla, F, Tamamyan, G, Tan, D, Tandili, A, Tarrillo Leiva, FF, Tashvighi, M, Tateshi, B, Tehuteru, ES, Teixeira, LF, Teh, KH, Theophile, T, Toledano, H, Trang, DL, Traore, F, Trichaiyaporn, S, Tuncer, S, Tyau-Tyau, H, Umar, AB, Unal, E, Uner, OE, Urbak, SF, Ushakova, TL, Usmanov, RH, Valeina, S, Wijsard, MVH, Varadisai, A, Vasquez, L, Vaughan, LO, Veleva-Krasteva, NV, Verma, N, Victor, AA, Viksnins, M, Villacos Chafla, EG, Vishnevskia-Dai, V, Vora, T, Wachtel, AE, Wackernagel, W, Waddell, K, Wade, PD, Wali, AH, Wang, Y-Z, Weiss, A, Wilson, MW, Wime, ADC, Wiwatwongwana, A, Wiwatwongwana, D, Dod, CW, Wongwai, P, Xiang, D, Xiao, Y, Yam, JC, Yang, H, Yanga, JM, Yaqub, MA, Yarovaya, VA, Yarovoy, AA, Ye, H, Yousef, YA, Yuliawati, P, Zapata Lopez, AM, Zein, E, Zhang, C, Zhang, Y, Zhao, J, Zheng, X, Zhilyaeva, K, Zia, N, Ziko, OAO, Zondervan, M, and Bowman, R

Abstract

IMPORTANCE: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale. OBJECTIVES: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. DESIGN, SETTING, AND PARTICIPANTS: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. MAIN OUTCOMES AND MEASURES: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. RESULTS: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low- and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis

Published
2020

3. Clinical Presentations and Outcomes of Retinoblastoma Patients in relation to the Advent of New Multimodal Treatments: A 12-Year Report from Single Tertiary Referral Institute in Thailand.

Author

Rojanaporn D, Attaseth T, Dieosuthichat W, Leelawongs K, Pakakasama S, Anurathapan U, Chanthanaphak E, Singhara Na Ayudhaya S, Aroonroch R, and Hongeng S

Abstract

Purpose: To investigate the clinical presentations and outcomes of retinoblastoma in relation to the advent of new multimodal treatments in Thailand. Patients and Methods. Retrospective case series. We evaluated the clinical presentation, staging, details of treatment, and treatment outcomes of retinoblastoma patients who were treated at Ramathibodi Hospital, Bangkok, Thailand, between January 1, 2007, and December 31, 2018. The log-rank test was used to explore clinical characteristics and treatment modalities that affected globe salvage and survival curves., Results: This study included 124 eyes of 81 patients with retinoblastoma. Forty-three patients (53.1%) had bilateral retinoblastoma. The median age at diagnosis was 8 months (range, 1-48 months). Of 124 eyes, 9 eyes (7.3%) had extraocular retinoblastoma and 115 eyes (92.7%) had intraocular retinoblastoma, which were classified by the International Classification of Retinoblastoma (ICRB) as group A, 4 eyes (3.5%); group B, 19 eyes (16.5%); group C, 6 eyes (5.2%); group D, 31 eyes (27%); and group E, 56 eyes (47.8%). Treatment included systemic chemotherapy, intra-arterial chemotherapy, ruthenium-106 plaque brachytherapy, external beam radiation therapy, cryotherapy, transpupillary thermotherapy, subtenon chemotherapy, and intravitreal chemotherapy. At the median follow-up period of 38.4 months (range, 0.2-148.2 months), the overall globe salvage rate of intraocular retinoblastoma was 51.7%. For unilateral retinoblastoma, globe salvage rate was 37.5% (group B, 100%; group C, 100%; group D, 50%; and group E, 18.8%). For bilateral intraocular retinoblastoma, the globe salvage rate was 57.8% (group A, 100 %; group B, 94.4%; group C, 100%; group D, 64.7%; and group E, 28.2%). The overall survival rate was 93.8%., Conclusions: Recent advanced treatment modalities have improved the probability of globe salvage. However, enucleation remains an important life-saving intervention in many advanced cases., Competing Interests: The authors declare that there are no conflicts of interest pertaining to the publication of this article., (Copyright © 2020 Duangnate Rojanaporn et al.)

Published
2020
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4. Global Retinoblastoma Presentation and Analysis by National Income Level.

Author

Fabian ID, Abdallah E, Abdullahi SU, Abdulqader RA, Adamou Boubacar S, Ademola-Popoola DS, Adio A, Afshar AR, Aggarwal P, Aghaji AE, Ahmad A, Akib MNR, Al Harby L, Al Ani MH, Alakbarova A, Portabella SA, Al-Badri SAF, Alcasabas APA, Al-Dahmash SA, Alejos A, Alemany-Rubio E, Alfa Bio AI, Alfonso Carreras Y, Al-Haddad C, Al-Hussaini HHY, Ali AM, Alia DB, Al-Jadiry MF, Al-Jumaily U, Alkatan HM, All-Eriksson C, Al-Mafrachi AARM, Almeida AA, Alsawidi KM, Al-Shaheen AASM, Al-Shammary EH, Amiruddin PO, Antonino R, Astbury NJ, Atalay HT, Atchaneeyasakul LO, Atsiaya R, Attaseth T, Aung TH, Ayala S, Baizakova B, Balaguer J, Balayeva R, Balwierz W, Barranco H, Bascaran C, Beck Popovic M, Benavides R, Benmiloud S, Bennani Guebessi N, Berete RC, Berry JL, Bhaduri A, Bhat S, Biddulph SJ, Biewald EM, Bobrova N, Boehme M, Boldt HC, Bonanomi MTBC, Bornfeld N, Bouda GC, Bouguila H, Boumedane A, Brennan RC, Brichard BG, Buaboonnam J, Calderón-Sotelo P, Calle Jara DA, Camuglia JE, Cano MR, Capra M, Cassoux N, Castela G, Castillo L, Català-Mora J, Chantada GL, Chaudhry S, Chaugule SS, Chauhan A, Chawla B, Chernodrinska VS, Chiwanga FS, Chuluunbat T, Cieslik K, Cockcroft RL, Comsa C, Correa ZM, Correa Llano MG, Corson TW, Cowan-Lyn KE, Csóka M, Cui X, Da Gama IV, Dangboon W, Das A, Das S, Davanzo JM, Davidson A, De Potter P, Delgado KQ, Demirci H, Desjardins L, Diaz Coronado RY, Dimaras H, Dodgshun AJ, Donaldson C, Donato Macedo CR, Dragomir MD, Du Y, Du Bruyn M, Edison KS, Eka Sutyawan IW, El Kettani A, Elbahi AM, Elder JE, Elgalaly D, Elhaddad AM, Elhassan MMA, Elzembely MM, Essuman VA, Evina TGA, Fadoo Z, Fandiño AC, Faranoush M, Fasina O, Fernández DDPG, Fernández-Teijeiro A, Foster A, Frenkel S, Fu LD, Fuentes-Alabi SL, Gallie BL, Gandiwa M, Garcia JL, García Aldana D, Gassant PY, Geel JA, Ghassemi F, Girón AV, Gizachew Z, Goenz MA, Gold AS, Goldberg-Lavid M, Gole GA, Gomel N, Gonzalez E, Gonzalez Perez G, González-Rodríguez L, Garcia Pacheco HN, Graells J, Green L, Gregersen PA, Grigorovski NDAK, Guedenon KM, Gunasekera DS, Gündüz AK, Gupta H, Gupta S, Hadjistilianou T, Hamel P, Hamid SA, Hamzah N, Hansen ED, Harbour JW, Hartnett ME, Hasanreisoglu M, Hassan S, Hassan S, Hederova S, Hernandez J, Hernandez LMC, Hessissen L, Hordofa DF, Huang LC, Hubbard GB, Hummlen M, Husakova K, Hussein Al-Janabi AN, Ida R, Ilic VR, Jairaj V, Jeeva I, Jenkinson H, Ji X, Jo DH, Johnson KP, Johnson WJ, Jones MM, Kabesha TBA, Kabore RL, Kaliki S, Kalinaki A, Kantar M, Kao LY, Kardava T, Kebudi R, Kepak T, Keren-Froim N, Khan ZJ, Khaqan HA, Khauv P, Kheir WJ, Khetan V, Khodabande A, Khotenashvili Z, Kim JW, Kim JH, Kiratli H, Kivelä TT, Klett A, Komba Palet JEK, Krivaitiene D, Kruger M, Kulvichit K, Kuntorini MW, Kyara A, Lachmann ES, Lam CPS, Lam GC, Larson SA, Latinovic S, Laurenti KD, Le BHA, Lecuona K, Leverant AA, Li C, Limbu B, Long QB, López JP, Lukamba RM, Lumbroso L, Luna-Fineman S, Lutfi D, Lysytsia L, Magrath GN, Mahajan A, Majeed AR, Maka E, Makan M, Makimbetov EK, 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Subjects
Child, Preschool, Female, Humans, Infant, Male, Retinoblastoma economics, Retinoblastoma epidemiology
Abstract

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale., Objectives: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis., Design, Setting, and Participants: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017., Main Outcomes and Measures: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis., Results: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low- and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle-income countries and HICs, 17.92 [95% CI, 12.94-24.80], and for lower-middle-income countries vs upper-middle-income countries and HICs, 5.74 [95% CI, 4.30-7.68])., Conclusions and Relevance: This study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs.

Published
2020
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5. Spectrum of germline RB1 mutations and clinical manifestations in retinoblastoma patients from Thailand.

Author

Rojanaporn D, Boontawon T, Chareonsirisuthigul T, Thanapanpanich O, Attaseth T, Saengwimol D, Anurathapan U, Sujirakul T, Kaewkhaw R, and Hongeng S

Subjects
Adult, Base Sequence, Child, Child, Preschool, Exons, Female, Gene Expression, Genotype, Humans, Infant, Inheritance Patterns, Male, Multiplex Polymerase Chain Reaction, Pedigree, Promoter Regions, Genetic, Retinal Neoplasms diagnosis, Retinal Neoplasms pathology, Retinoblastoma diagnosis, Retinoblastoma pathology, Severity of Illness Index, Thailand, Germ-Line Mutation, Phenotype, Retinal Neoplasms genetics, Retinoblastoma genetics, Retinoblastoma Binding Proteins genetics, Ubiquitin-Protein Ligases genetics
Abstract

Purpose: Retinoblastoma (RB) is a retinal tumor that most commonly occurs in children. Approximately 40% of RB patients carry germline mutations in the RB1 gene. RB survivors with germline mutations are at increased risk of passing on the disease to future offspring and of secondary cancer in adulthood. This highlights the importance of genetic testing in disease management and counseling. This study aimed to identify germline RB1 mutations and to correlate the mutations with clinical phenotypes of RB patients., Methods: Genomic DNA was extracted from peripheral blood mononuclear cells isolated from 52 RB patients (27 unilaterally and 25 bilaterally affected probands). Mutations in the RB1 gene, including the promoter and exons 1-27 with flanking intronic sequences, were identified by direct sequencing. The samples with negative test results were subjected to multiplex ligation-dependent probe amplification (MLPA) to detect any gross mutations. A correlation of germline RB1 mutations with tumor laterality or age at diagnosis was determined for RB patients. Age at diagnosis was examined in regard to genetic test results and the presence of extraocular tumor extension., Results: Germline RB1 mutations were detected in 60% (31/52) of patients. RB1 mutations were identified in 92% (22/25) of bilateral RB patients, and a high rate of germline RB1 mutations was found in unilateral RB cases (33% or 9/27). Whole gene and exon deletions were reported in five patients. Twenty-three distinct mutations as a result of base substitutions and small deletions were identified in 26 patients; seven mutations were novel. Nonsense and splicing mutations were commonly identified in RB patients. Furthermore, a synonymous mutation was detected in a patient with familial RB; affected mutation carriers in this family exhibited differences in disease severity. The types of germline RB1 mutations were not associated with age at diagnosis or laterality. In addition, patients with positive and negative test results for germline RB1 mutations were similar in age at diagnosis. The incidence of extraocular tumors was high in patients with heritable RB (83% or 5/6), particularly in unilateral cases (33% or 3/9); the mean age at diagnosis of these patients was not different from that of patients with intraocular tumors., Conclusions: This study provides a data set of an RB1 genotypic spectrum of germline mutations and clinical phenotypes and reports the distribution of disease-associated germline mutations in Thai RB patients who attended our center. Our data and the detection methods could assist in identifying a patient with heritable RB, establishing management plans, and informing proper counseling for patients and their families.

Published
2018

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