U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cone-rod dystrophy 8(CORD8)

MedGen UID:
381360
Concept ID:
C1854180
Disease or Syndrome
Synonym: CORD8
 
Monarch Initiative: MONDO:0011564
OMIM®: 605549

Definition

A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24. [from MONDO]

Clinical features

From HPO
Retinal arteriolar constriction
MedGen UID:
853673
Concept ID:
C2176208
Finding
Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.
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.
Pallor
MedGen UID:
10547
Concept ID:
C0030232
Finding
Abnormally pale skin.
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Abnormal optic nerve morphology
MedGen UID:
472883
Concept ID:
C0029131
Finding
Abnormality of the optic nerve.
Epiphora
MedGen UID:
57518
Concept ID:
C0152227
Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
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.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Abnormality of retinal pigmentation
MedGen UID:
350681
Concept ID:
C1862475
Finding
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.

Professional guidelines

PubMed

Lorenz B, Tavares J, van den Born LI, Marques JP, Scholl HPN; EVICR.net Group
Ophthalmic Res 2021;64(5):740-753. Epub 2021 Mar 8 doi: 10.1159/000515688. PMID: 33684911

Recent clinical studies

Etiology

Griffith J 3rd, Sioufi K, Wilbanks L, Magrath GN, Say EAT, Lyons MJ, Wilkes M, Pai GS, Peterseim MMW
Genes (Basel) 2022 Aug 20;13(8) doi: 10.3390/genes13081490. PMID: 36011402Free PMC Article

Diagnosis

Griffith J 3rd, Sioufi K, Wilbanks L, Magrath GN, Say EAT, Lyons MJ, Wilkes M, Pai GS, Peterseim MMW
Genes (Basel) 2022 Aug 20;13(8) doi: 10.3390/genes13081490. PMID: 36011402Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...