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Retinal cone dystrophy 4(RCD4)

MedGen UID:
355308
Concept ID:
C1864849
Disease or Syndrome
Synonym: RCD4
 
Gene (location): CACNA2D4 (12p13.33)
 
Monarch Initiative: MONDO:0012507
OMIM®: 610478

Definition

Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene. [from MONDO]

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.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Retinal pigment epithelial mottling
MedGen UID:
347513
Concept ID:
C1857644
Finding
Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Electronegative electroretinogram
MedGen UID:
867203
Concept ID:
C4021561
Finding
A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source
Cone-rod dystrophy
MedGen UID:
896366
Concept ID:
C4085590
Disease or Syndrome
There 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\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\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

Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M
Am J Ophthalmol 2021 May;225:95-107. Epub 2020 Dec 11 doi: 10.1016/j.ajo.2020.11.022. PMID: 33309813Free PMC Article
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
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ
Ophthalmology 2012 Apr;119(4):819-26. Epub 2012 Jan 20 doi: 10.1016/j.ophtha.2011.10.011. PMID: 22264887
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

Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M
Am J Ophthalmol 2021 May;225:95-107. Epub 2020 Dec 11 doi: 10.1016/j.ajo.2020.11.022. PMID: 33309813Free PMC Article
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
Sato S, Peshenko IV, Olshevskaya EV, Kefalov VJ, Dizhoor AM
J Neurosci 2018 Mar 21;38(12):2990-3000. Epub 2018 Feb 12 doi: 10.1523/JNEUROSCI.2985-17.2018. PMID: 29440533Free 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
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ
Ophthalmology 2012 Apr;119(4):819-26. Epub 2012 Jan 20 doi: 10.1016/j.ophtha.2011.10.011. PMID: 22264887

Therapy

Liu PK, Ryu J, Yeh LK, Chen KJ, Tsang SH, Liu L, Wang NK
Ophthalmic Genet 2021 Aug;42(4):458-463. Epub 2021 May 7 doi: 10.1080/13816810.2021.1920039. PMID: 33960280Free PMC Article

Prognosis

Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M
Am J Ophthalmol 2021 May;225:95-107. Epub 2020 Dec 11 doi: 10.1016/j.ajo.2020.11.022. PMID: 33309813Free 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
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ
Ophthalmology 2012 Apr;119(4):819-26. Epub 2012 Jan 20 doi: 10.1016/j.ophtha.2011.10.011. PMID: 22264887

Clinical prediction guides

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
Mukherjee R, Robson AG, Holder GE, Stockman A, Egan CA, Moore AT, Webster AR
Eye (Lond) 2014 Apr;28(4):481-7. Epub 2014 Jan 31 doi: 10.1038/eye.2014.7. PMID: 24480840Free PMC Article

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