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Helicoid peripapillary chorioretinal degeneration(SCRA; AA; HPCD)

MedGen UID:
Concept ID:
Disease or Syndrome
SNOMED CT: Helicoid peripapillary chorioretinal degeneration (724384008); Atrophia areata (724384008); Sveinsson chorioretinal atrophy (724384008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): TEAD1 (11p15.3)
Monarch Initiative: MONDO:0007176
OMIM®: 108985
Orphanet: ORPHA86813


Sveinsson chorioretinal atrophy (SCRA) is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress at a variable rate, sometimes leading to central visual loss. Separate small distinct circular atrophic lesions are observed in the peripheral ocular fundus in some patients. Congenital anterior polar cataracts are found in approximately 25% of affected individuals (summary by Jonasson et al., 2007). [from OMIM]

Clinical features

From HPO
MedGen UID:
Concept ID:
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).
MedGen UID:
Concept ID:
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.
Peripapillary chorioretinal atrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).

Recent clinical studies


Kumar V, Trehan H, Goel N
JAMA Ophthalmol 2017 Oct 12;135(10):e173236. doi: 10.1001/jamaophthalmol.2017.3236. PMID: 29049677
Triantafylla M, Panos GD, Dardabounis D, Nanos P, Konstantinidis A
Eur J Ophthalmol 2016 Feb 15;26(2):e30-1. doi: 10.5301/ejo.5000695. PMID: 26541114
Brazitikos PD, Safran AB
Am J Ophthalmol 1990 Mar 15;109(3):290-4. doi: 10.1016/s0002-9394(14)74552-0. PMID: 2309860


Triantafylla M, Panos GD, Dardabounis D, Nanos P, Konstantinidis A
Eur J Ophthalmol 2016 Feb 15;26(2):e30-1. doi: 10.5301/ejo.5000695. PMID: 26541114


Triantafylla M, Panos GD, Dardabounis D, Nanos P, Konstantinidis A
Eur J Ophthalmol 2016 Feb 15;26(2):e30-1. doi: 10.5301/ejo.5000695. PMID: 26541114

Clinical prediction guides

Fossdal R, Jonasson F, Kristjansdottir GT, Kong A, Stefansson H, Gosh S, Gulcher JR, Stefansson K
Hum Mol Genet 2004 May 1;13(9):975-81. Epub 2004 Mar 11 doi: 10.1093/hmg/ddh106. PMID: 15016762

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