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Cone dystrophy 3(COD3)

MedGen UID:
356104
Concept ID:
C1865869
Disease or Syndrome
Synonyms: COD3; RETINAL CONE DYSTROPHY
 
Gene (location): GUCA1A (6p21.1)
 
Monarch Initiative: MONDO:0011193
OMIM®: 602093

Definition

Progressive cone dystrophy usually presents in childhood or early adult life, with many patients developing rod photoreceptor involvement in later life, thereby leading to considerable overlap between progressive cone dystrophy and cone-rod dystrophy. Both progressive cone dystrophy and cone-rod dystrophy have been associated with mutation in the GUCA1A gene (Michaelides et al., 2006). Intrafamilial variability in GUCA1A-associated macular disease ranges from mild photoreceptor degeneration to central areolar choroidal dystrophy (CACD), a form of retinal degeneration that primarily involves the macula and is characterized by a well-defined atrophic region of retinal pigment epithelium and choriocapillaris in the latest stage (Chen et al., 2017). [from OMIM]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Macular atrophy
MedGen UID:
140841
Concept ID:
C0423421
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.
Cone-rod dystrophy
MedGen UID:
896366
Concept ID:
C4085590
Disease or Syndrome
The 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.\n\nCone-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.

Recent clinical studies

Etiology

Bhowmik KK, Barek MA, Aziz MA, Islam MS
Technol Cancer Res Treat 2022 Jan-Dec;21:15330338221123109. doi: 10.1177/15330338221123109. PMID: 36254562Free PMC Article
Barek MA, Jafrin S, Aziz MA, Islam MS
Int J Biol Markers 2022 Sep;37(3):227-240. Epub 2022 May 30 doi: 10.1177/03936155221104128. PMID: 35645161
Oh JK, Ryu J, Lima de Carvalho JR Jr, Levi SR, Lee W, Tsamis E, Greenstein VC, Mahajan VB, Allikmets R, Tsang SH
Am J Ophthalmol 2020 Oct;218:40-53. Epub 2020 May 21 doi: 10.1016/j.ajo.2020.05.016. PMID: 32445700Free PMC Article
Oishi M, Oishi A, Ogino K, Makiyama Y, Gotoh N, Kurimoto M, Yoshimura N
Invest Ophthalmol Vis Sci 2014 May 20;55(6):3572-7. doi: 10.1167/iovs.14-13912. PMID: 24845635
Bagolini B, Porciatti V, Falsini B, Neroni M, Fadda A, Merendino E, Moretti G
Doc Ophthalmol 1989 Apr;71(4):435-43. doi: 10.1007/BF00152772. PMID: 2791851

Diagnosis

Oh JK, Ryu J, Lima de Carvalho JR Jr, Levi SR, Lee W, Tsamis E, Greenstein VC, Mahajan VB, Allikmets R, Tsang SH
Am J Ophthalmol 2020 Oct;218:40-53. Epub 2020 May 21 doi: 10.1016/j.ajo.2020.05.016. PMID: 32445700Free PMC Article
Chen X, Sheng X, Sun X, Zhang Y, Jiang C, Li H, Ding S, Liu Y, Liu W, Li Z, Zhao C
Sci Rep 2016 Apr 12;6:24357. doi: 10.1038/srep24357. PMID: 27067258Free PMC Article
Roy R, Saurabh K, Chandrasekharan DP, Sharma P, Vyas C
Clin Exp Optom 2016 Mar;99(2):198-9. doi: 10.1111/cxo.12309. PMID: 27012694
Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N
Mol Vis 2016;22:150-60. Epub 2016 Feb 20 PMID: 26957898Free PMC Article
Oishi M, Oishi A, Ogino K, Makiyama Y, Gotoh N, Kurimoto M, Yoshimura N
Invest Ophthalmol Vis Sci 2014 May 20;55(6):3572-7. doi: 10.1167/iovs.14-13912. PMID: 24845635

Prognosis

Chen X, Sheng X, Sun X, Zhang Y, Jiang C, Li H, Ding S, Liu Y, Liu W, Li Z, Zhao C
Sci Rep 2016 Apr 12;6:24357. doi: 10.1038/srep24357. PMID: 27067258Free PMC Article
Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N
Mol Vis 2016;22:150-60. Epub 2016 Feb 20 PMID: 26957898Free PMC Article
Oishi M, Oishi A, Ogino K, Makiyama Y, Gotoh N, Kurimoto M, Yoshimura N
Invest Ophthalmol Vis Sci 2014 May 20;55(6):3572-7. doi: 10.1167/iovs.14-13912. PMID: 24845635

Clinical prediction guides

Oh JK, Ryu J, Lima de Carvalho JR Jr, Levi SR, Lee W, Tsamis E, Greenstein VC, Mahajan VB, Allikmets R, Tsang SH
Am J Ophthalmol 2020 Oct;218:40-53. Epub 2020 May 21 doi: 10.1016/j.ajo.2020.05.016. PMID: 32445700Free PMC Article
Chen X, Sheng X, Sun X, Zhang Y, Jiang C, Li H, Ding S, Liu Y, Liu W, Li Z, Zhao C
Sci Rep 2016 Apr 12;6:24357. doi: 10.1038/srep24357. PMID: 27067258Free PMC Article
Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N
Mol Vis 2016;22:150-60. Epub 2016 Feb 20 PMID: 26957898Free PMC Article
Oishi M, Oishi A, Ogino K, Makiyama Y, Gotoh N, Kurimoto M, Yoshimura N
Invest Ophthalmol Vis Sci 2014 May 20;55(6):3572-7. doi: 10.1167/iovs.14-13912. PMID: 24845635
Buch PK, Mihelec M, Cottrill P, Wilkie SE, Pearson RA, Duran Y, West EL, Michaelides M, Ali RR, Hunt DM
PLoS One 2011 Mar 28;6(3):e18089. doi: 10.1371/journal.pone.0018089. PMID: 21464903Free PMC Article

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