X-linked Choroideremia.
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Adv Exp Med Biol. 2018;1085:37-42. doi: 10.1007/978-3-319-95046-4_9.
X-Linked Choroideremia.
Zhou A, Tsang SH, Sharma T, Diaconita V.
Adv Exp Med Biol. 2025;1467:43-49. doi: 10.1007/978-3-031-72230-1_9.
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J.
Acta Ophthalmol. 2020 Dec;98(8):e1034-e1048. doi: 10.1111/aos.14479. Epub 2020 Jun 1.
Late-onset Stargardt disease.
Alsberge JB, Agarwal A.
Am J Ophthalmol Case Rep. 2022 Feb 16;26:101429. doi: 10.1016/j.ajoc.2022.101429. eCollection 2022 Jun.
New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.
Kazmierczak de Camargo JP, Prezia GNB, Shiokawa N, Sato MT, Rosati R, Beate Winter Boldt A.
Front Genet. 2022 May 17;13:886461. doi: 10.3389/fgene.2022.886461. eCollection 2022.
Hereditary hemorrhagic macular dystrophy.
Carr RE, Noble KG, Nasaduke I.
Am J Ophthalmol. 1978 Mar;85(3):318-28. doi: 10.1016/s0002-9394(14)77722-0.
Sorsby Pseudoinflammatory Fundus Dystrophy.
Tsang SH, Sharma T.
Adv Exp Med Biol. 2018;1085:105-108. doi: 10.1007/978-3-319-95046-4_20.
Bietti crystalline dystrophy complicated by choroidal neovascularization treated with a single dose of aflibercept.
Ozbek M, Pehlivanoglu S, Artunay HO.
Oman J Ophthalmol. 2023 Feb 21;16(1):142-144. doi: 10.4103/ojo.ojo_9_22. eCollection 2023 Jan-Apr.
North Carolina Macular Dystrophy.
Diaz A, J Hartung K, Small K.
Adv Exp Med Biol. 2025;1467:115-117. doi: 10.1007/978-3-031-72230-1_21.
Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations.
Hirashima T, Miyata M, Ishihara K, Hasegawa T, Sugahara M, Ogino K, Yoshikawa M, Hata M, Kuroda Y, Muraoka Y, Ooto S, Yoshimura N.
Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3871-3878. doi: 10.1167/iovs.17-21515.
