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Retinal cone dystrophy type 1(RCD1)

MedGen UID:
356747
Concept ID:
C1867326
Disease or Syndrome
Synonyms: Cone dystrophy autosomal dominant; RETINAL CONE DEGENERATION
 
Monarch Initiative: MONDO:0008374
OMIM®: 180020

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.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Color vision defect
MedGen UID:
115964
Concept ID:
C0234629
Finding
An anomaly in the ability to discriminate between or recognize colors.
Abnormal electroretinogram
MedGen UID:
96908
Concept ID:
C0476397
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Bull eye maculopathy
MedGen UID:
321812
Concept ID:
C1828210
Finding
Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
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

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

Diagnosis

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
Katagiri S, Hayashi T, Takeuchi T, Yamada H, Gekka T, Kawabe K, Kurita A, Tsuneoka H
Doc Ophthalmol 2015 Jun;130(3):189-95. Epub 2015 Feb 3 doi: 10.1007/s10633-015-9488-8. PMID: 25643591
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

Prognosis

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

Katagiri S, Hayashi T, Takeuchi T, Yamada H, Gekka T, Kawabe K, Kurita A, Tsuneoka H
Doc Ophthalmol 2015 Jun;130(3):189-95. Epub 2015 Feb 3 doi: 10.1007/s10633-015-9488-8. PMID: 25643591

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