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Foveal atrophy

MedGen UID:
927611
Concept ID:
C4293702
Pathologic Function
HPO: HP:0025010

Definition

Partial or complete loss of foveal tissue that was once present. [from HPO]

Term Hierarchy

Conditions with this feature

Cone-rod dystrophy 18
MedGen UID:
815629
Concept ID:
C3809299
Disease or Syndrome
Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.

Professional guidelines

PubMed

Biarnés M, Colijn JM, Sousa J, Ferraro LL, Garcia M, Verzijden T, Meester-Smoor MA, Delcourt C, Klaver CCW, den Hollander AI, Lengyel I, Peto T, Monés J; EYE-RISK Consortium
Ophthalmol Retina 2020 Dec;4(12):1129-1137. Epub 2020 May 1 doi: 10.1016/j.oret.2020.04.014. PMID: 32371126
Chen KJ, Sun MH, Sun CC, Wang NK, Hou CH, Wu AL, Wu WC, Lai CC
Ophthalmol Retina 2019 Jan;3(1):53-60. Epub 2018 Aug 25 doi: 10.1016/j.oret.2018.08.007. PMID: 30935658
Charbel Issa P, Kupitz EH, Heeren TF, Holz FG
Dev Ophthalmol 2016;55:189-95. Epub 2015 Oct 26 doi: 10.1159/000431263. PMID: 26501828

Recent clinical studies

Etiology

Liang R, Yang L, Zeng S, Liu X
Retina 2023 Oct 1;43(10):1691-1699. doi: 10.1097/IAE.0000000000003872. PMID: 37343308
Richards Z, Nguyen ML, Kutteh M, Ahmad S, Henson C, Firestone B, Herman TS, Herman TF
Med Dosim 2022 Autumn;47(3):273-279. Epub 2022 May 26 doi: 10.1016/j.meddos.2022.04.006. PMID: 35644778
Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2022 May;129(5):542-551. Epub 2021 Nov 23 doi: 10.1016/j.ophtha.2021.11.019. PMID: 34822951
Monés J, Biarnés M
Br J Ophthalmol 2018 Mar;102(3):388-392. Epub 2017 Jul 20 doi: 10.1136/bjophthalmol-2017-310268. PMID: 28729371Free PMC Article
Kao TY, Chen MS, Jou JR, Lin CP, Tsai TH, Ho TC
J Formos Med Assoc 2015 Mar;114(3):238-45. Epub 2013 Apr 18 doi: 10.1016/j.jfma.2012.11.011. PMID: 23602019

Diagnosis

Liang R, Yang L, Zeng S, Liu X
Retina 2023 Oct 1;43(10):1691-1699. doi: 10.1097/IAE.0000000000003872. PMID: 37343308
Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2022 May;129(5):542-551. Epub 2021 Nov 23 doi: 10.1016/j.ophtha.2021.11.019. PMID: 34822951
Kao TY, Chen MS, Jou JR, Lin CP, Tsai TH, Ho TC
J Formos Med Assoc 2015 Mar;114(3):238-45. Epub 2013 Apr 18 doi: 10.1016/j.jfma.2012.11.011. PMID: 23602019
Onal S, Tugal-Tutkun I, Neri P, P Herbort C
Int Ophthalmol 2014 Apr;34(2):401-35. Epub 2013 Jul 9 doi: 10.1007/s10792-013-9822-7. PMID: 23835664
Charbel Issa P, Gillies MC, Chew EY, Bird AC, Heeren TF, Peto T, Holz FG, Scholl HP
Prog Retin Eye Res 2013 May;34:49-77. Epub 2012 Dec 3 doi: 10.1016/j.preteyeres.2012.11.002. PMID: 23219692Free PMC Article

Therapy

Chandra S, Gurudas S, Burton BJL, Menon G, Pearce I, Mckibbin M, Kotagiri A, Talks J, Grabowska A, Ghanchi F, Gale R, Giani A, Chong V, Yamaguchi TCN, Pal B, Thottarath S, Pakeer RM, Chandak S, Montesel A, Sivaprasad S
Eye (Lond) 2024 Mar;38(4):757-765. Epub 2023 Oct 18 doi: 10.1038/s41433-023-02769-5. PMID: 37853106Free PMC Article
Feenstra HMA, Diederen RMH, Lamme MJCM, Tsonaka R, Fauser S, Yzer S, van Rijssen T, Gkika T, Downes SM, Schlingemann RO, Hoyng CB, van Dijk EHC, Boon CJF
Retina 2023 Mar 1;43(3):379-388. Epub 2023 Jan 2 doi: 10.1097/IAE.0000000000003686. PMID: 36727801Free PMC Article
Richards Z, Nguyen ML, Kutteh M, Ahmad S, Henson C, Firestone B, Herman TS, Herman TF
Med Dosim 2022 Autumn;47(3):273-279. Epub 2022 May 26 doi: 10.1016/j.meddos.2022.04.006. PMID: 35644778
Sadda SR, Guymer R, Monés JM, Tufail A, Jaffe GJ
Ophthalmology 2020 May;127(5):648-659. Epub 2019 Nov 22 doi: 10.1016/j.ophtha.2019.11.010. PMID: 32081493
Charbel Issa P, Kupitz EH, Heeren TF, Holz FG
Dev Ophthalmol 2016;55:189-95. Epub 2015 Oct 26 doi: 10.1159/000431263. PMID: 26501828

Prognosis

Liang R, Yang L, Zeng S, Liu X
Retina 2023 Oct 1;43(10):1691-1699. doi: 10.1097/IAE.0000000000003872. PMID: 37343308
Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2022 May;129(5):542-551. Epub 2021 Nov 23 doi: 10.1016/j.ophtha.2021.11.019. PMID: 34822951
Monés J, Biarnés M
Br J Ophthalmol 2018 Mar;102(3):388-392. Epub 2017 Jul 20 doi: 10.1136/bjophthalmol-2017-310268. PMID: 28729371Free PMC Article
Charbel Issa P, Kupitz EH, Heeren TF, Holz FG
Dev Ophthalmol 2016;55:189-95. Epub 2015 Oct 26 doi: 10.1159/000431263. PMID: 26501828
Onal S, Tugal-Tutkun I, Neri P, P Herbort C
Int Ophthalmol 2014 Apr;34(2):401-35. Epub 2013 Jul 9 doi: 10.1007/s10792-013-9822-7. PMID: 23835664

Clinical prediction guides

Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2022 May;129(5):542-551. Epub 2021 Nov 23 doi: 10.1016/j.ophtha.2021.11.019. PMID: 34822951
Charbel Issa P, Kupitz EH, Heeren TF, Holz FG
Dev Ophthalmol 2016;55:189-95. Epub 2015 Oct 26 doi: 10.1159/000431263. PMID: 26501828
Kao TY, Chen MS, Jou JR, Lin CP, Tsai TH, Ho TC
J Formos Med Assoc 2015 Mar;114(3):238-45. Epub 2013 Apr 18 doi: 10.1016/j.jfma.2012.11.011. PMID: 23602019
Onal S, Tugal-Tutkun I, Neri P, P Herbort C
Int Ophthalmol 2014 Apr;34(2):401-35. Epub 2013 Jul 9 doi: 10.1007/s10792-013-9822-7. PMID: 23835664
Fujinami K, Sergouniotis PI, Davidson AE, Wright G, Chana RK, Tsunoda K, Tsubota K, Egan CA, Robson AG, Moore AT, Holder GE, Michaelides M, Webster AR
Am J Ophthalmol 2013 Sep;156(3):487-501.e1. doi: 10.1016/j.ajo.2013.05.003. PMID: 23953153

Recent systematic reviews

Sadda SR, Guymer R, Monés JM, Tufail A, Jaffe GJ
Ophthalmology 2020 May;127(5):648-659. Epub 2019 Nov 22 doi: 10.1016/j.ophtha.2019.11.010. PMID: 32081493

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