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Cone-rod dystrophy 7(CORD7)

MedGen UID:
355026
Concept ID:
C1863634
Disease or Syndrome
Synonym: CORD7
 
Monarch Initiative: MONDO:0011355
OMIM®: 603649

Definition

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.

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. [from MedlinePlus Genetics]

Clinical features

From HPO
Color vision defect
MedGen UID:
115964
Concept ID:
C0234629
Finding
An anomaly in the ability to discriminate between or recognize colors.
Retinal flecks
MedGen UID:
602327
Concept ID:
C0423414
Finding
Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.
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.
Bull eye maculopathy
MedGen UID:
321812
Concept ID:
C1828210
Finding
Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
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.
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

Chiou YR, Cheng HC, Wang AG
Ophthalmic Genet 2022 Jun;43(3):409-412. Epub 2022 Jan 11 doi: 10.1080/13816810.2022.2025604. PMID: 35014575
Warwick AN, Shawkat F, Lotery AJ
Ophthalmic Genet 2017 Mar-Apr;38(2):178-182. Epub 2016 May 13 doi: 10.1080/13816810.2016.1183215. PMID: 27176872

Diagnosis

Paul MM, Dannhäuser S, Morris L, Mrestani A, Hübsch M, Gehring J, Hatzopoulos GN, Pauli M, Auger GM, Bornschein G, Scholz N, Ljaschenko D, Müller M, Sauer M, Schmidt H, Kittel RJ, DiAntonio A, Vakonakis I, Heckmann M, Langenhan T
Brain 2022 Nov 21;145(11):3787-3802. doi: 10.1093/brain/awac011. PMID: 35022694
Chiou YR, Cheng HC, Wang AG
Ophthalmic Genet 2022 Jun;43(3):409-412. Epub 2022 Jan 11 doi: 10.1080/13816810.2022.2025604. PMID: 35014575
Warwick AN, Shawkat F, Lotery AJ
Ophthalmic Genet 2017 Mar-Apr;38(2):178-182. Epub 2016 May 13 doi: 10.1080/13816810.2016.1183215. PMID: 27176872

Therapy

Warwick AN, Shawkat F, Lotery AJ
Ophthalmic Genet 2017 Mar-Apr;38(2):178-182. Epub 2016 May 13 doi: 10.1080/13816810.2016.1183215. PMID: 27176872

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