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Cone dystrophy with supernormal rod response(RCD3B)

MedGen UID:
332081
Concept ID:
C1835897
Disease or Syndrome
Synonyms: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES; RCD3B; Retinal cone dystrophy 3B
SNOMED CT: Cone dystrophy with supernormal rod response (719455002); Cone dystrophy with supernormal rod electroretinogram (719455002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): KCNV2 (9p24.2)
 
Monarch Initiative: MONDO:0012475
OMIM®: 610356
Orphanet: ORPHA209932

Definition

Cone dystrophy with supernormal rod responses (CDSRR) is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field. Nyctalopia is a later feature of the disorder. There is often retinal pigment epithelium disturbance at the macula with a normal retinal periphery. Autofluorescence (AF) imaging shows either a perifoveal ring or a central macular area of relative increased AF (summary by Michaelides et al., 2005). [from OMIM]

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.
Astigmatism
MedGen UID:
2473
Concept ID:
C0004106
Disease or Syndrome
Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Scotoma
MedGen UID:
19902
Concept ID:
C0036454
Finding
A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
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.
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

Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE
Retina 2010 Jan;30(1):51-62. doi: 10.1097/IAE.0b013e3181bfe24e. PMID: 19952985

Recent clinical studies

Etiology

Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S
Ophthalmic Genet 2021 Apr;42(2):144-149. Epub 2020 Dec 29 doi: 10.1080/13816810.2020.1861307. PMID: 33372566
Abdelkader E, Yasir ZH, Khan AM, Raddadi O, Khandekar R, Alateeq N, Nowilaty S, AlShahrani N, Schatz P
Doc Ophthalmol 2020 Aug;141(1):23-32. Epub 2020 Jan 20 doi: 10.1007/s10633-020-09748-1. PMID: 31960170
Kimchi A, Meiner V, Silverstein S, Macarov M, Mor-Shaked H, Blumenfeld A, Audo I, Zeitz C, Mechoulam H, Banin E, Sharon D, Yahalom C
Ophthalmic Genet 2019 Oct;40(5):443-448. Epub 2019 Oct 25 doi: 10.1080/13816810.2019.1681008. PMID: 31651202
Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T
Doc Ophthalmol 2019 Jun;138(3):229-239. Epub 2019 Mar 15 doi: 10.1007/s10633-019-09679-6. PMID: 30877594

Diagnosis

Liu M, Zhu Y, Huang L, Jiang W, Wu N, Song Y, Lu Y, Ma Y
Mol Genet Genomic Med 2021 Oct;9(10):e1795. Epub 2021 Sep 18 doi: 10.1002/mgg3.1795. PMID: 34535971Free PMC Article
Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S
Ophthalmic Genet 2021 Apr;42(2):144-149. Epub 2020 Dec 29 doi: 10.1080/13816810.2020.1861307. PMID: 33372566
Abdelkader E, Yasir ZH, Khan AM, Raddadi O, Khandekar R, Alateeq N, Nowilaty S, AlShahrani N, Schatz P
Doc Ophthalmol 2020 Aug;141(1):23-32. Epub 2020 Jan 20 doi: 10.1007/s10633-020-09748-1. PMID: 31960170
Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E
Ophthalmology 2013 Nov;120(11):2338-43. Epub 2013 May 29 doi: 10.1016/j.ophtha.2013.03.031. PMID: 23725738
Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T
Invest Ophthalmol Vis Sci 2008 Feb;49(2):751-7. doi: 10.1167/iovs.07-0471. PMID: 18235024

Therapy

Liu PK, Ryu J, Yeh LK, Chen KJ, Tsang SH, Liu L, Wang NK
Ophthalmic Genet 2021 Aug;42(4):458-463. Epub 2021 May 7 doi: 10.1080/13816810.2021.1920039. PMID: 33960280Free PMC Article

Prognosis

Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S
Ophthalmic Genet 2021 Apr;42(2):144-149. Epub 2020 Dec 29 doi: 10.1080/13816810.2020.1861307. PMID: 33372566
Kimchi A, Meiner V, Silverstein S, Macarov M, Mor-Shaked H, Blumenfeld A, Audo I, Zeitz C, Mechoulam H, Banin E, Sharon D, Yahalom C
Ophthalmic Genet 2019 Oct;40(5):443-448. Epub 2019 Oct 25 doi: 10.1080/13816810.2019.1681008. PMID: 31651202
Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T
Doc Ophthalmol 2019 Jun;138(3):229-239. Epub 2019 Mar 15 doi: 10.1007/s10633-019-09679-6. PMID: 30877594

Clinical prediction guides

Abdelkader E, Yasir ZH, Khan AM, Raddadi O, Khandekar R, Alateeq N, Nowilaty S, AlShahrani N, Schatz P
Doc Ophthalmol 2020 Aug;141(1):23-32. Epub 2020 Jan 20 doi: 10.1007/s10633-020-09748-1. PMID: 31960170
Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T
Doc Ophthalmol 2019 Jun;138(3):229-239. Epub 2019 Mar 15 doi: 10.1007/s10633-019-09679-6. PMID: 30877594
Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T
Invest Ophthalmol Vis Sci 2008 Feb;49(2):751-7. doi: 10.1167/iovs.07-0471. PMID: 18235024

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