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Cone-rod dystrophy 6(CORD6)

MedGen UID:
400963
Concept ID:
C1866293
Disease or Syndrome
Synonyms: Cone dystrophy progressive; CORD6; Retinal cone dystrophy 2
 
Gene (location): GUCY2D (17p13.1)
 
Monarch Initiative: MONDO:0011143
OMIM®: 601777

Definition

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).

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.

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. [from MedlinePlus Genetics]

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.
Hemeralopia
MedGen UID:
42391
Concept ID:
C0018975
Disease or Syndrome
A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Peripheral visual field loss
MedGen UID:
116124
Concept ID:
C0241688
Finding
Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field 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.
Dyschromatopsia
MedGen UID:
163559
Concept ID:
C0858618
Disease or Syndrome
A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Progressive night blindness
MedGen UID:
870373
Concept ID:
C4024818
Finding
Chorioretinal atrophy
MedGen UID:
884881
Concept ID:
C4048273
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.
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

Ferreira MM, Antunes-Foschini R, Furtado JM
Sci Rep 2022 Feb 18;12(1):2807. doi: 10.1038/s41598-022-06798-0. PMID: 35181704Free PMC Article

Diagnosis

Peshenko IV, Olshevskaya EV, Dizhoor AM
J Biol Chem 2021 Oct;297(4):101201. Epub 2021 Sep 16 doi: 10.1016/j.jbc.2021.101201. PMID: 34537244Free PMC Article
Peshenko IV, Olshevskaya EV, Dizhoor AM
J Biol Chem 2020 Dec 25;295(52):18301-18315. Epub 2020 Oct 27 doi: 10.1074/jbc.RA120.015553. PMID: 33109612Free PMC Article
Salehi Chaleshtori AR, Garshasbi M, Salehi A, Noruzinia M
Eur J Med Genet 2020 Mar;63(3):103750. Epub 2019 Aug 27 doi: 10.1016/j.ejmg.2019.103750. PMID: 31470097
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

Clinical prediction guides

Peshenko IV, Olshevskaya EV, Dizhoor AM
J Biol Chem 2020 Dec 25;295(52):18301-18315. Epub 2020 Oct 27 doi: 10.1074/jbc.RA120.015553. PMID: 33109612Free PMC Article
Salehi Chaleshtori AR, Garshasbi M, Salehi A, Noruzinia M
Eur J Med Genet 2020 Mar;63(3):103750. Epub 2019 Aug 27 doi: 10.1016/j.ejmg.2019.103750. PMID: 31470097

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