Retinal macular dystrophy (MCDR)
Macular dystrophy with central cone involvement (CCMD)
Macular dystrophy with or without cone dysfunction (MDCD)
Stargardt disease [DS:H00819]
Cone-rod dystrophy [DS:H00481]
Vitelliform macular dystrophy [DS:H00814]
X-linked juvenile retinoschisis [DS:H01766]
Occult macular dystrophy [DS:H01010]
Central areolar choroidal dystrophy [DS:H01768]
Pattern dystrophies of the retinal pigment epithelium [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