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Cone-rod dystrophy 3(CORD3)

MedGen UID:
349030
Concept ID:
C1858806
Disease or Syndrome
Synonym: CORD3
 
Gene (location): ABCA4 (1p22.1)
 
Monarch Initiative: MONDO:0011395
OMIM®: 604116

Definition

Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by Klevering et al., 2002 and Ducroq et al., 2002). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced (Fishman et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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).

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.  https://medlineplus.gov/genetics/condition/cone-rod-dystrophy

Clinical features

From HPO
Central scotoma
MedGen UID:
57750
Concept ID:
C0152191
Finding
An area of depressed vision located at the point of fixation and that interferes with central vision.
Color vision defect
MedGen UID:
115964
Concept ID:
C0234629
Finding
An anomaly in the ability to discriminate between or recognize colors.
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.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Bull eye maculopathy
MedGen UID:
321812
Concept ID:
C1828210
Finding
Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Visual loss
MedGen UID:
784038
Concept ID:
C3665386
Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
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.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Recent clinical studies

Etiology

Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME
Mol Vis 2020;26:423-433. Epub 2020 Jun 3 PMID: 32565670Free PMC Article
Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T
Invest Ophthalmol Vis Sci 2016 Dec 1;57(15):6861-6869. doi: 10.1167/iovs.16-19445. PMID: 28002560Free PMC Article
Hauke J, Schild A, Neugebauer A, Lappa A, Fricke J, Fauser S, Rösler S, Pannes A, Zarrinnam D, Altmüller J, Motameny S, Nürnberg G, Nürnberg P, Hahnen E, Beck BB
PLoS One 2013;8(10):e76414. Epub 2013 Oct 4 doi: 10.1371/journal.pone.0076414. PMID: 24124559Free PMC Article
Kurz-Levin MM, Halfyard AS, Bunce C, Bird AC, Holder GE
Arch Ophthalmol 2002 May;120(5):567-75. doi: 10.1001/archopht.120.5.567. PMID: 12003605

Diagnosis

Wyględowska-Promieńska D, Świerczyńska M, Śpiewak D, Pojda-Wilczek D, Tronina A, Dorecka M, Smędowski A
Int J Mol Sci 2024 Mar 2;25(5) doi: 10.3390/ijms25052928. PMID: 38474172Free PMC Article
Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME
Mol Vis 2020;26:423-433. Epub 2020 Jun 3 PMID: 32565670Free PMC Article
Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T
Invest Ophthalmol Vis Sci 2016 Dec 1;57(15):6861-6869. doi: 10.1167/iovs.16-19445. PMID: 28002560Free PMC Article
Hauke J, Schild A, Neugebauer A, Lappa A, Fricke J, Fauser S, Rösler S, Pannes A, Zarrinnam D, Altmüller J, Motameny S, Nürnberg G, Nürnberg P, Hahnen E, Beck BB
PLoS One 2013;8(10):e76414. Epub 2013 Oct 4 doi: 10.1371/journal.pone.0076414. PMID: 24124559Free PMC Article

Prognosis

Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T
Invest Ophthalmol Vis Sci 2016 Dec 1;57(15):6861-6869. doi: 10.1167/iovs.16-19445. PMID: 28002560Free PMC Article

Clinical prediction guides

Wyględowska-Promieńska D, Świerczyńska M, Śpiewak D, Pojda-Wilczek D, Tronina A, Dorecka M, Smędowski A
Int J Mol Sci 2024 Mar 2;25(5) doi: 10.3390/ijms25052928. PMID: 38474172Free PMC Article
Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T
Invest Ophthalmol Vis Sci 2016 Dec 1;57(15):6861-6869. doi: 10.1167/iovs.16-19445. PMID: 28002560Free PMC Article