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Geographic atrophy

MedGen UID:
323488
Concept ID:
C1536085
Disease or Syndrome
Synonyms: Atrophies, Geographic; Atrophy, Geographic; Degeneration, Dry Macular; Degenerations, Dry Macular; Dry Macular Degeneration; Dry Macular Degenerations; Geographic Atrophies; Geographic Atrophy; Macular Degeneration, Dry; Macular Degenerations, Dry
 
HPO: HP:0031609

Definition

Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium. [from HPO]

Term Hierarchy

Conditions with this feature

Age related macular degeneration 1
MedGen UID:
400475
Concept ID:
C1864205
Disease or Syndrome
Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). Genetic Heterogeneity of Age-Related Macular Degeneration ARMD2 (153800) is associated with mutation in the ABCR gene (601691) on chromosome 1p, and ARMD3 (608895) is caused by mutation in the FBLN5 gene (604580) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4; 610698) appears to be explained by a polymorphism in the CFH gene (134370.0008). ARMD5 (613761) and ARMD6 (613757) are associated with mutation in the ERCC6 (609413) and RAX2 (610362) genes, respectively. ARMD7 (610149) and ARMD8 (613778), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (602194) and ARMS2 (611313) genes, respectively. ARMD9 (611378) is associated with single-nucleotide polymorphisms in the C3 gene (120700). ARMD10 (611488) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (603030). ARMD11 (611953) is association with variation in the CST3 gene (604312); ARMD12 (613784) with variation in the CX3CR1 gene (601470); and ARMD13 (615439) with variation in the CFI gene (217030). ARMD14 (615489) is associated with variation in or near the C2 (613927) and CFB (138470) genes on chromosome 6p21. ARMD15 (615591) is associated with variation in the C9 gene (120940). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (590050). A haplotype carrying deletion of the complement factor H-related genes CFHR1 (134371) and CFHR3 (605336) is also associated with reduced risk of ARMD. Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.
Retinitis pigmentosa 10
MedGen UID:
357247
Concept ID:
C1867299
Disease or Syndrome
Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses (Jordan et al., 1993; Bowne et al., 2002; Bowne et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 73
MedGen UID:
907690
Concept ID:
C4225287
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
MedGen UID:
1780157
Concept ID:
C5543257
Disease or Syndrome
SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020).

Professional guidelines

PubMed

Girgis S, Lee LR
Clin Exp Ophthalmol 2023 Nov;51(8):835-852. Epub 2023 Sep 22 doi: 10.1111/ceo.14294. PMID: 37737509
Liao DS, Metlapally R, Joshi P
Immunotherapy 2022 Sep;14(13):995-1006. Epub 2022 Jul 21 doi: 10.2217/imt-2022-0078. PMID: 35860926
Flores R, Carneiro Â, Vieira M, Tenreiro S, Seabra MC
Ophthalmologica 2021;244(6):495-511. Epub 2021 Jun 15 doi: 10.1159/000517520. PMID: 34130290

Recent clinical studies

Etiology

Heier JS, Lad EM, Holz FG, Rosenfeld PJ, Guymer RH, Boyer D, Grossi F, Baumal CR, Korobelnik JF, Slakter JS, Waheed NK, Metlapally R, Pearce I, Steinle N, Francone AA, Hu A, Lally DR, Deschatelets P, Francois C, Bliss C, Staurenghi G, Monés J, Singh RP, Ribeiro R, Wykoff CC; OAKS and DERBY study investigators
Lancet 2023 Oct 21;402(10411):1434-1448. doi: 10.1016/S0140-6736(23)01520-9. PMID: 37865470
Shughoury A, Sevgi DD, Ciulla TA
Expert Opin Pharmacother 2023 Sep-Dec;24(17):1887-1899. Epub 2023 Sep 11 doi: 10.1080/14656566.2023.2257604. PMID: 37691588
Keenan TDL, Cukras CA, Chew EY
Adv Exp Med Biol 2021;1256:1-31. doi: 10.1007/978-3-030-66014-7_1. PMID: 33847996
Jaffe GJ, Westby K, Csaky KG, Monés J, Pearlman JA, Patel SS, Joondeph BC, Randolph J, Masonson H, Rezaei KA
Ophthalmology 2021 Apr;128(4):576-586. Epub 2020 Sep 1 doi: 10.1016/j.ophtha.2020.08.027. PMID: 32882310
Gheorghe A, Mahdi L, Musat O
Rom J Ophthalmol 2015 Apr-Jun;59(2):74-7. PMID: 26978865Free PMC Article

Diagnosis

Heier JS, Lad EM, Holz FG, Rosenfeld PJ, Guymer RH, Boyer D, Grossi F, Baumal CR, Korobelnik JF, Slakter JS, Waheed NK, Metlapally R, Pearce I, Steinle N, Francone AA, Hu A, Lally DR, Deschatelets P, Francois C, Bliss C, Staurenghi G, Monés J, Singh RP, Ribeiro R, Wykoff CC; OAKS and DERBY study investigators
Lancet 2023 Oct 21;402(10411):1434-1448. doi: 10.1016/S0140-6736(23)01520-9. PMID: 37865470
Bakri SJ, Bektas M, Sharp D, Luo R, Sarda SP, Khan S
J Manag Care Spec Pharm 2023 May;29(5-a Suppl):S2-S11. doi: 10.18553/jmcp.2023.29.5-a.s2. PMID: 37125931Free PMC Article
Jaffe GJ, Westby K, Csaky KG, Monés J, Pearlman JA, Patel SS, Joondeph BC, Randolph J, Masonson H, Rezaei KA
Ophthalmology 2021 Apr;128(4):576-586. Epub 2020 Sep 1 doi: 10.1016/j.ophtha.2020.08.027. PMID: 32882310
Fleckenstein M, Mitchell P, Freund KB, Sadda S, Holz FG, Brittain C, Henry EC, Ferrara D
Ophthalmology 2018 Mar;125(3):369-390. Epub 2017 Oct 27 doi: 10.1016/j.ophtha.2017.08.038. PMID: 29110945
Gheorghe A, Mahdi L, Musat O
Rom J Ophthalmol 2015 Apr-Jun;59(2):74-7. PMID: 26978865Free PMC Article

Therapy

Heier JS, Lad EM, Holz FG, Rosenfeld PJ, Guymer RH, Boyer D, Grossi F, Baumal CR, Korobelnik JF, Slakter JS, Waheed NK, Metlapally R, Pearce I, Steinle N, Francone AA, Hu A, Lally DR, Deschatelets P, Francois C, Bliss C, Staurenghi G, Monés J, Singh RP, Ribeiro R, Wykoff CC; OAKS and DERBY study investigators
Lancet 2023 Oct 21;402(10411):1434-1448. doi: 10.1016/S0140-6736(23)01520-9. PMID: 37865470
Girgis S, Lee LR
Clin Exp Ophthalmol 2023 Nov;51(8):835-852. Epub 2023 Sep 22 doi: 10.1111/ceo.14294. PMID: 37737509
Desai D, Dugel PU
Eye (Lond) 2022 Feb;36(2):294-302. Epub 2022 Jan 9 doi: 10.1038/s41433-021-01765-x. PMID: 34999723Free PMC Article
Jaffe GJ, Westby K, Csaky KG, Monés J, Pearlman JA, Patel SS, Joondeph BC, Randolph J, Masonson H, Rezaei KA
Ophthalmology 2021 Apr;128(4):576-586. Epub 2020 Sep 1 doi: 10.1016/j.ophtha.2020.08.027. PMID: 32882310
Fleckenstein M, Mitchell P, Freund KB, Sadda S, Holz FG, Brittain C, Henry EC, Ferrara D
Ophthalmology 2018 Mar;125(3):369-390. Epub 2017 Oct 27 doi: 10.1016/j.ophtha.2017.08.038. PMID: 29110945

Prognosis

Patel SS, Lally DR, Hsu J, Wykoff CC, Eichenbaum D, Heier JS, Jaffe GJ, Westby K, Desai D, Zhu L, Khanani AM
Eye (Lond) 2023 Dec;37(17):3551-3557. Epub 2023 Mar 24 doi: 10.1038/s41433-023-02497-w. PMID: 36964259Free PMC Article
Cabral de Guimaraes TA, Daich Varela M, Georgiou M, Michaelides M
Br J Ophthalmol 2022 Mar;106(3):297-304. Epub 2021 Mar 19 doi: 10.1136/bjophthalmol-2020-318452. PMID: 33741584Free PMC Article
Keenan TDL, Cukras CA, Chew EY
Adv Exp Med Biol 2021;1256:1-31. doi: 10.1007/978-3-030-66014-7_1. PMID: 33847996
Jaffe GJ, Westby K, Csaky KG, Monés J, Pearlman JA, Patel SS, Joondeph BC, Randolph J, Masonson H, Rezaei KA
Ophthalmology 2021 Apr;128(4):576-586. Epub 2020 Sep 1 doi: 10.1016/j.ophtha.2020.08.027. PMID: 32882310
Fleckenstein M, Mitchell P, Freund KB, Sadda S, Holz FG, Brittain C, Henry EC, Ferrara D
Ophthalmology 2018 Mar;125(3):369-390. Epub 2017 Oct 27 doi: 10.1016/j.ophtha.2017.08.038. PMID: 29110945

Clinical prediction guides

Boyer D, Hu A, Warrow D, Xavier S, Gonzalez V, Lad E, Rosen RB, Do D, Schneiderman T, Ho A, Munk MR, Jaffe G, Tedford SE, Croissant CL, Walker M, Rückert R, Tedford CE
Retina 2024 Mar 1;44(3):487-497. doi: 10.1097/IAE.0000000000003980. PMID: 37972955Free PMC Article
Heier JS, Lad EM, Holz FG, Rosenfeld PJ, Guymer RH, Boyer D, Grossi F, Baumal CR, Korobelnik JF, Slakter JS, Waheed NK, Metlapally R, Pearce I, Steinle N, Francone AA, Hu A, Lally DR, Deschatelets P, Francois C, Bliss C, Staurenghi G, Monés J, Singh RP, Ribeiro R, Wykoff CC; OAKS and DERBY study investigators
Lancet 2023 Oct 21;402(10411):1434-1448. doi: 10.1016/S0140-6736(23)01520-9. PMID: 37865470
Keenan TDL, Cukras CA, Chew EY
Adv Exp Med Biol 2021;1256:1-31. doi: 10.1007/978-3-030-66014-7_1. PMID: 33847996
Liao DS, Grossi FV, El Mehdi D, Gerber MR, Brown DM, Heier JS, Wykoff CC, Singerman LJ, Abraham P, Grassmann F, Nuernberg P, Weber BHF, Deschatelets P, Kim RY, Chung CY, Ribeiro RM, Hamdani M, Rosenfeld PJ, Boyer DS, Slakter JS, Francois CG
Ophthalmology 2020 Feb;127(2):186-195. Epub 2019 Jul 16 doi: 10.1016/j.ophtha.2019.07.011. PMID: 31474439
Fleckenstein M, Mitchell P, Freund KB, Sadda S, Holz FG, Brittain C, Henry EC, Ferrara D
Ophthalmology 2018 Mar;125(3):369-390. Epub 2017 Oct 27 doi: 10.1016/j.ophtha.2017.08.038. PMID: 29110945

Recent systematic reviews

Garg A, Nanji K, Tai F, Phillips M, Zeraatkar D, Garg SJ, Sadda SR, Kaiser PK, Guymer RH, Sivaprasad S, Wykoff CC, Chaudhary V
Surv Ophthalmol 2024 May-Jun;69(3):349-361. Epub 2023 Nov 24 doi: 10.1016/j.survophthal.2023.11.008. PMID: 38008405
Evans JR, Lawrenson JG
Cochrane Database Syst Rev 2023 Sep 13;9(9):CD000254. doi: 10.1002/14651858.CD000254.pub5. PMID: 37702300Free PMC Article
Vangsted A, Thinggaard BS, Nissen AHK, Hajari JN, Klefter ON, Krogh Nielsen M, Sørensen TL, Grauslund J, Subhi Y
Acta Ophthalmol 2023 Dec;101(8):857-868. Epub 2023 Sep 8 doi: 10.1111/aos.15768. PMID: 37680141
Gheorghe A, Mahdi L, Musat O
Rom J Ophthalmol 2015 Apr-Jun;59(2):74-7. PMID: 26978865Free PMC Article
Wong WL, Su X, Li X, Cheung CM, Klein R, Cheng CY, Wong TY
Lancet Glob Health 2014 Feb;2(2):e106-16. Epub 2014 Jan 3 doi: 10.1016/S2214-109X(13)70145-1. PMID: 25104651

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