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Progressive bifocal chorioretinal atrophy(PBCRA)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: PBCRA
SNOMED CT: Progressive bifocal chorioretinal atrophy (719266007)
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): LOC111365204 (6q16.2)
Monarch Initiative: MONDO:0010932
OMIM®: 600790
Orphanet: ORPHA75373


Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital chorioretinal dystrophy. The disorder is characterized by progressive macular and nasal retinal atrophic lesions, nystagmus, myopia, and poor vision. Invariably, there are 2 distinct foci of atrophy, a temporal focus that is present at birth and a nasal focus that appears early in life. Retinal detachment is an additional complication of the disease (Douglas et al., 1968; Kelsell et al., 1995). [from OMIM]

Clinical features

From HPO
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.
MedGen UID:
Concept ID:
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Retinal detachment
MedGen UID:
Concept ID:
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Chorioretinal dystrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Visual impairment
MedGen UID:
Concept ID:
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.
Chorioretinal atrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.

Professional guidelines


Farinha CL, Baltar AS, Nunes SG, Figueira JP, Pires IA, Cachulo ML, Silva RM
Ophthalmologica 2014;231(4):211-20. Epub 2014 Mar 22 doi: 10.1159/000357290. PMID: 24662778

Recent clinical studies


Small KW, Tawfik CA, Udar N, Udar U, Avetisjan J, El-Aidy LA, Shaya FS
Retina 2022 Dec 1;42(12):2379-2387. doi: 10.1097/IAE.0000000000003611. PMID: 36007168


Silva RS, Arno G, Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL, Dhaenens CM, Jensen H, Rosenberg T, van Heyningen V, Moore AT, Puech B, Webster AR
Hum Mutat 2019 May;40(5):578-587. Epub 2019 Feb 14 doi: 10.1002/humu.23715. PMID: 30710461
Gehrig A, Felbor U, Kelsell RE, Hunt DM, Maumenee IH, Weber BH
J Med Genet 1998 Aug;35(8):641-5. doi: 10.1136/jmg.35.8.641. PMID: 9719369Free PMC Article

Clinical prediction guides

Kelsell RE, Godley BF, Evans K, Tiffin PA, Gregory CY, Plant C, Moore AT, Bird AC, Hunt DM
Hum Mol Genet 1995 Sep;4(9):1653-6. doi: 10.1093/hmg/4.9.1653. PMID: 8541856

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