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Macular dystrophy

MedGen UID:
196451
Concept ID:
C0730292
Disease or Syndrome
HPO: HP:0007754

Definition

Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. [from HPO]

Conditions with this feature

Cystoid macular edema
MedGen UID:
7435
Concept ID:
C0024440
Disease or Syndrome
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).
North Carolina macular dystrophy
MedGen UID:
147590
Concept ID:
C0730294
Disease or Syndrome
North Carolina macular dystrophy (NCMD, MCDR1) is a congenital autosomal dominant trait that appears to be completely penetrant. It is generally nonprogressive. The ophthalmoscopic findings are highly variable and are always much more dramatic than one would predict from the relatively good visual acuity level, which ranges from 20/20 to 20/400 (median, 20/60). Patients may have only a few drusen in the central macular region (grade I), confluent drusen confined to the central macular region (grade II), or a severe macular coloboma/staphyloma (grade III) involving 3 to 4 disc areas of the central macular region. Choroidal neovascular membranes develop in some patients. Color vision is normal. Electrophysiologic studies are also normal (summary by Small, 1998). Genetic Heterogeneity of Retinal Macular Dystrophy MCDR2 (608051) is caused by mutation in the PROM1 gene (604365) on chromosome 4p15. MCDR3 (608850) is caused by a duplication on chromosome 5p15. MCDR4 (619977) is caused by mutation in the CLEC3B gene (187520) on chromosome 3p21. MCDR5 (see 613660) is caused by mutation in the CDHR1 gene (609502) on chromosome 10q23. See MAPPING for possible additional loci for MCDR.
Macular corneal dystrophy
MedGen UID:
351514
Concept ID:
C1636149
Disease or Syndrome
Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000).
Congenital hypotrichosis with juvenile macular dystrophy
MedGen UID:
316921
Concept ID:
C1832162
Disease or Syndrome
Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterized by hair loss followed by progressive macular degeneration and early blindness. Scalp hair is lost during the first months of life, with onset of retinal degeneration and vision loss a few years to 2 decades later (summary by Sprecher et al., 2001 and Indelman et al., 2002).
Macular dystrophy, fenestrated sheen type
MedGen UID:
331921
Concept ID:
C1835173
Disease or Syndrome
Stargardt disease 3
MedGen UID:
333146
Concept ID:
C1838644
Disease or Syndrome
Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects (Bernstein et al., 2001; Maugeri et al., 2004).
Macular dystrophy, X-linked
MedGen UID:
374323
Concept ID:
C1839842
Disease or Syndrome
Adult-onset foveomacular vitelliform dystrophy
MedGen UID:
334280
Concept ID:
C1842914
Disease or Syndrome
Adult-onset foveomacular vitelliform dystrophy, also known as adult vitelliform macular dystrophy, adult-type foveomacular dystrophy, adult vitelliform macular degeneration, pseudovitelliform macular degeneration, and adult-onset foveomacular pigment epithelial dystrophy, is characterized by a solitary, oval, slightly elevated yellowish subretinal lesion of the fovea that is similar in appearance to the vitelliform or egg-yolk stage of Best disease (153700). Initially the yellow lesion may be present in only one eye. The size is generally one-third to one disc diameter, and small yellow flecks are seen in the paracentral lesion. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted decrease of visual acuity and mild metamorphopsia. Electrooculographic testing reveals a normal or only slightly reduced Arden ratio, which is intensely abnormal in Best disease. The prognosis is optimistic, as most patients retain reading vision throughout life (Felbor et al., 1997; Yamaguchi et al., 2001). For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840).
Sorsby fundus dystrophy
MedGen UID:
338164
Concept ID:
C1850938
Disease or Syndrome
Sorsby fundus dystrophy is an autosomal dominant retinal dystrophy characterized by the loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life (summary by Wijesuriya et al., 1996).
EEM syndrome
MedGen UID:
341679
Concept ID:
C1857041
Congenital Abnormality
EEM syndrome denotes a disorder characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy. The ectodermal dysplasia consists of hypotrichosis affecting scalp hair, eyebrows, and eyelashes, with partial anodontia. Different degrees of absence deformities as well as syndactyly have been described, the hands often being more severely affected than the feet. The retinal lesion appears as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels (summary by Kjaer et al., 2005).
Vitelliform macular dystrophy 2
MedGen UID:
411553
Concept ID:
C2745945
Disease or Syndrome
Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macular dystrophy (BVMD), BEST1 adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC); and autosomal recessive bestrophinopathy (ARB). Onset is usually in the first decade (except AVMD in which onset is age 30 to 50 years). Slow visual deterioration is the usual course. Choroidal neovascularization can occur in rare cases. ADVIRC is also associated with panophthalmic involvement including nanophthalmos, microcornea, hyperopia, and narrow anterior chamber angle with angle closure glaucoma.
Occult macular dystrophy
MedGen UID:
462183
Concept ID:
C3150833
Disease or Syndrome
Occult macular dystrophy (OCMD) is characterized by progressive decline of visual acuity in both eyes, associated with a normal fundus and normal fluorescein angiography. Patients have normal full-field electroretinograms (ERGs) but severely reduced focal macular ERGs, as recorded by conventional techniques using small stimuli under background illumination. OCMD patients are believed to have localized retinal dysfunction distal to the ganglion cells in the central retina (summary by Piao et al., 2000).
Bardet-Biedl syndrome 5
MedGen UID:
856141
Concept ID:
C3892039
Disease or Syndrome
BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Vitelliform macular dystrophy 4
MedGen UID:
863779
Concept ID:
C4015342
Disease or Syndrome
Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). Vitelliform macular dystrophy-4 (VMD4) is characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculography (EOG) (Meunier et al., 2014). In most families with VMD4 caused by compound heterozygous or homozygous mutations in IMPG1, asymptomatic heterozygous carriers have been found to have fundus changes (Manes et al., 2013; Brandl et al., 2017). Brandl et al. (2017) examined patients with VMD4, caused by mutation in the IMPG1 gene, and patients with VMD5 (616152), caused by mutation in the IMPG2 gene, and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above a preserved Bruch membrane/RPE on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in patients with IMPG1 mutations. For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840).
Vitelliform macular dystrophy 5
MedGen UID:
863780
Concept ID:
C4015343
Disease or Syndrome
Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). Vitelliform macular dystrophy-5 (VMD5) is characterized by late-onset moderate visual impairment, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculopathy (EOG) (Meunier et al., 2014). Brandl et al. (2017) examined patients with IMPG2- and IMPG1 (602870)-associated VMD (see VMD4; 616151) and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above the seemingly preserved Bruch membrane/RPE seen on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in patients with IMPG1 mutations. For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840).
Macular dystrophy with central cone involvement
MedGen UID:
863808
Concept ID:
C4015371
Disease or Syndrome
Premature ovarian failure 12
MedGen UID:
934749
Concept ID:
C4310782
Disease or Syndrome
Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.
Vitelliform macular dystrophy 1
MedGen UID:
1636950
Concept ID:
C4551953
Disease or Syndrome
Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). In contrast to typical VMD (see 153700), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals (Hittner et al., 1984). Genetic Heterogeneity of Vitelliform Macular Dystrophy See also vitelliform macular dystrophy-2 (VMD2; 153700), caused by mutation in the BEST1 gene (607854) on chromosome 11q12; VMD3 (608161), caused by mutation in the PRPH2 gene (179605) on chromosome 6p21; VMD4 (616151), caused by mutation in the IMPG1 gene (602870) on chromosome 6q14; and VMD5 (616152), caused by mutation in the IMPG2 gene (607056) on chromosome 3q12.
Heimler syndrome 1
MedGen UID:
1647369
Concept ID:
C4551980
Disease or Syndrome
Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, 214100), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015). Genetic Heterogeneity of Heimler Syndrome Another form of Heimler syndrome (HMLR2; 616617) is caused by mutation in the PEX6 gene (601498) on chromosome 6p21.
Patterned macular dystrophy 1
MedGen UID:
1646806
Concept ID:
C4551999
Disease or Syndrome
Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see 268000)-like changes have sometimes been observed in association with patterned dystrophies (summary by Vaclavik et al., 2012). Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see 179840 and 267800), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea. Genetic Heterogeneity of Patterned Macular Dystrophy Also see MDPT2 (608970), caused by mutation in the CTNNA1 gene (116805) on chromosome 5q31; and MDPT3 (617111), caused by mutation in the MAPKAPK3 gene (602130) on chromosome 3p21.
Retinal macular dystrophy type 2
MedGen UID:
1666864
Concept ID:
C4749334
Disease or Syndrome
A rare, genetic macular dystrophy disorder characterised by slowly progressive bull''s eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1).
Benign concentric annular macular dystrophy
MedGen UID:
1794135
Concept ID:
C5561925
Disease or Syndrome
Retinitis pigmentosa-91 (R91) is characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy. Patients may also experience early macular involvement, with photophobia and reduced visual acuity, and some show a bull's eye pattern of macular atrophy (Olivier et al., 2021).

Professional guidelines

PubMed

Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
de Breuk A, Acar IE, Kersten E, Schijvenaars MMVAP, Colijn JM, Haer-Wigman L, Bakker B, de Jong S, Meester-Smoor MA, Verzijden T, Missotten TOAR, Monés J, Biarnés M, Pauleikhoff D, Hense HW, Silva R, Nunes S, Melo JB, Fauser S, Hoyng CB, Ueffing M, Coenen MJH, Klaver CCW, den Hollander AI; EYE-RISK Consortium
Ophthalmology 2021 Nov;128(11):1604-1617. Epub 2020 Jul 25 doi: 10.1016/j.ophtha.2020.07.037. PMID: 32717343
Haji Abdollahi S, Hirose T
Semin Ophthalmol 2013 Sep-Nov;28(5-6):372-6. doi: 10.3109/08820538.2013.825286. PMID: 24138045

Recent clinical studies

Therapy

Parodi MB, Iacono P, Da Pozzo S
Curr Drug Targets 2020;21(12):1201-1207. doi: 10.2174/1389450121666200428103334. PMID: 32342816
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article
Hussain RM, Ciulla TA, Berrocal AM, Gregori NZ, Flynn HW Jr, Lam BL
Expert Opin Biol Ther 2018 Oct;18(10):1049-1059. Epub 2018 Sep 10 doi: 10.1080/14712598.2018.1513486. PMID: 30129371
Schwartz SD, Regillo CD, Lam BL, Eliott D, Rosenfeld PJ, Gregori NZ, Hubschman JP, Davis JL, Heilwell G, Spirn M, Maguire J, Gay R, Bateman J, Ostrick RM, Morris D, Vincent M, Anglade E, Del Priore LV, Lanza R
Lancet 2015 Feb 7;385(9967):509-16. Epub 2014 Oct 15 doi: 10.1016/S0140-6736(14)61376-3. PMID: 25458728
Burdon MA, Sanders MD
Curr Opin Neurol 1996 Feb;9(1):16-20. doi: 10.1097/00019052-199602000-00004. PMID: 8722658

Prognosis

Huang D, Heath Jeffery RC, Aung-Htut MT, McLenachan S, Fletcher S, Wilton SD, Chen FK
Ophthalmic Genet 2022 Feb;43(1):1-26. Epub 2021 Aug 29 doi: 10.1080/13816810.2021.1966053. PMID: 34455905
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Singh S, Das S, Kannabiran C, Jakati S, Chaurasia S
Curr Eye Res 2021 Jun;46(6):765-770. Epub 2020 Nov 29 doi: 10.1080/02713683.2020.1849727. PMID: 33171054
Aggarwal S, Peck T, Golen J, Karcioglu ZA
Surv Ophthalmol 2018 Sep-Oct;63(5):609-617. Epub 2018 Mar 28 doi: 10.1016/j.survophthal.2018.03.004. PMID: 29604391
Schwartz SD, Regillo CD, Lam BL, Eliott D, Rosenfeld PJ, Gregori NZ, Hubschman JP, Davis JL, Heilwell G, Spirn M, Maguire J, Gay R, Bateman J, Ostrick RM, Morris D, Vincent M, Anglade E, Del Priore LV, Lanza R
Lancet 2015 Feb 7;385(9967):509-16. Epub 2014 Oct 15 doi: 10.1016/S0140-6736(14)61376-3. PMID: 25458728

Clinical prediction guides

Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T
Hum Mutat 2022 Dec;43(12):2251-2264. Epub 2022 Nov 7 doi: 10.1002/humu.24492. PMID: 36284460
Huang D, Heath Jeffery RC, Aung-Htut MT, McLenachan S, Fletcher S, Wilton SD, Chen FK
Ophthalmic Genet 2022 Feb;43(1):1-26. Epub 2021 Aug 29 doi: 10.1080/13816810.2021.1966053. PMID: 34455905
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article

Recent systematic reviews

Akpinar MH, Sengur A, Faust O, Tong L, Molinari F, Acharya UR
Comput Methods Programs Biomed 2024 Sep;254:108253. Epub 2024 May 28 doi: 10.1016/j.cmpb.2024.108253. PMID: 38861878
Perin C, Viganò B, Piscitelli D, Matteo BM, Meroni R, Cerri CG
Restor Neurol Neurosci 2020;38(3):239-250. doi: 10.3233/RNN-190948. PMID: 31884495Free PMC Article
Waugh N, Loveman E, Colquitt J, Royle P, Yeong JL, Hoad G, Lois N
Health Technol Assess 2018 May;22(27):1-168. doi: 10.3310/hta22270. PMID: 29846169Free PMC Article

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