網膜黄斑ジストロフィー (MCDR)
中心錐体病変を伴う黄斑ジストロフィー (CCMD)
錐体機能不全を伴う(伴わない)黄斑ジストロフィー (MDCD)
シュタルガルト病 [DS:H00819]
錐体杆体ジストロフィー [DS:H00481]
卵黄状黄斑ジストロフィー [DS:H00814]
X連鎖性若年網膜分離症 [DS:H01766]
オカルト黄斑ジストロフィー [DS:H01010]
中心性輪紋状脈絡膜ジストロフィー [DS:H01768]
模様黄斑ジストロフィー [DS:H01890]

Bitoun P, Pipiras E, Rigaudiere F

Congenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report.

Ophthalmic Genet 33:39-43 (2012)
DOI:10.3109/13816810.2011.596892

Liutkeviciene R, Lesauskaite V, Asmoniene V, Gelzinis A, Zaliuniene D, Jasinskas V

Inherited macular dystrophies and differential diagnostics.

Medicina (Kaunas) 48:485-95 (2012)

Michaelides M, Hunt DM, Moore AT

The genetics of inherited macular dystrophies.

J Med Genet 40:641-50 (2003)
DOI:10.1136/jmg.40.9.641

Arrigoni FI, Matarin M, Thompson PJ, Michaelides M, McClements ME, Redmond E, Clarke L, Ellins E, Mohamed S, Pavord I, Klein N, Hunt DM, Moore AT, Halcox J, Sisodiya SM

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.

Eur J Hum Genet 19:131-7 (2011)
DOI:10.1038/ejhg.2010.147

Zhou R, Mawatari G, Cai XB, Shen RJ, Wang YH, Wang YT, Guo YM, Guo FY, Yuan J, Pan D, Nao-I N, Jin ZB

CLEC3B is a novel causative gene for macular-retinal dystrophy.

Genet Med 24:1249-1260 (2022)
DOI:10.1016/j.gim.2022.02.012

Malechka VV, Cukras CA, Chew EY, Sergeev YV, Blain D, Jeffrey BG, Ullah E, Hufnagel RB, Brooks BP, Huryn LA, Zein WM

Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.

Genes (Basel) 13:genes13050925 (2022)
DOI:10.3390/genes13050925

Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

Ophthalmology 122:170-9 (2015)
DOI:10.1016/j.ophtha.2014.07.040

Bauwens M, Celik E, Zur D, Lin S, Quinodoz M, Michaelides M, Webster AR, Van Den Broeck F, Leroy BP, Rizel L, Moye AR, Meunier A, Tran HV, Moulin AP, Mahieu Q, Van Heetvelde M, Arno G, Rivolta C, De Baere E, Ben-Yosef T

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.

Am J Hum Genet 111:393-402 (2024)
DOI:10.1016/j.ajhg.2024.01.001