U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dominant pericentral pigmentary retinopathy

MedGen UID:
357237
Concept ID:
C1867261
Disease or Syndrome
Synonym: Retinopathy, Pericentral Pigmentary, Dominant
 
Monarch Initiative: MONDO:0008381
OMIM®: 180210

Definition

A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. [from MONDO]

Clinical features

From HPO
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Retinopathy
MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Retinal atrophy
MedGen UID:
101075
Concept ID:
C0521694
Disease or Syndrome
Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Retinal dystrophy
MedGen UID:
208903
Concept ID:
C0854723
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
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

Krašovec T, Kobal N, Šuštar Habjan M, Volk M, Hawlina M, Fakin A
Int J Mol Sci 2023 Jan 2;24(1) doi: 10.3390/ijms24010780. PMID: 36614223Free PMC Article
Sumaroka A, Cideciyan AV, Charng J, Wu V, Powers CA, Iyer BS, Lisi B, Swider M, Jacobson SG
Int J Mol Sci 2019 Oct 27;20(21) doi: 10.3390/ijms20215344. PMID: 31717845Free PMC Article
Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot MC, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens CM, Hamel CP
Am J Ophthalmol 2015 Feb;159(2):302-14. Epub 2014 Nov 5 doi: 10.1016/j.ajo.2014.10.033. PMID: 25447119
Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R
Acta Ophthalmol Scand 2007 May;85(3):287-97. doi: 10.1111/j.1600-0420.2006.00820.x. PMID: 17488458
Dickinson P, Mulhall L
Aust N Z J Ophthalmol 1989 Aug;17(3):247-56. doi: 10.1111/j.1442-9071.1989.tb00528.x. PMID: 2803770

Diagnosis

Krašovec T, Kobal N, Šuštar Habjan M, Volk M, Hawlina M, Fakin A
Int J Mol Sci 2023 Jan 2;24(1) doi: 10.3390/ijms24010780. PMID: 36614223Free PMC Article
Matsui R, Cideciyan AV, Schwartz SB, Sumaroka A, Roman AJ, Swider M, Huang WC, Sheplock R, Jacobson SG
Invest Ophthalmol Vis Sci 2015 Sep;56(10):6007-18. doi: 10.1167/iovs.15-17174. PMID: 26393467Free PMC Article
Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot MC, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens CM, Hamel CP
Am J Ophthalmol 2015 Feb;159(2):302-14. Epub 2014 Nov 5 doi: 10.1016/j.ajo.2014.10.033. PMID: 25447119
Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE
Acta Ophthalmol 2010 May;88(3):323-8. Epub 2009 Jan 30 doi: 10.1111/j.1755-3768.2008.01465.x. PMID: 19183411
Grøndahl J
Acta Ophthalmol (Copenh) 1987 Jun;65(3):344-51. doi: 10.1111/j.1755-3768.1987.tb08517.x. PMID: 3618160

Therapy

Sumaroka A, Cideciyan AV, Charng J, Wu V, Powers CA, Iyer BS, Lisi B, Swider M, Jacobson SG
Int J Mol Sci 2019 Oct 27;20(21) doi: 10.3390/ijms20215344. PMID: 31717845Free PMC Article

Prognosis

Ballios BG, Place EM, Martinez-Velazquez L, Pierce EA, Comander JI, Huckfeldt RM
Genes (Basel) 2021 Nov 23;12(12) doi: 10.3390/genes12121853. PMID: 34946802Free PMC Article
Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE
Acta Ophthalmol 2010 May;88(3):323-8. Epub 2009 Jan 30 doi: 10.1111/j.1755-3768.2008.01465.x. PMID: 19183411
Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R
Acta Ophthalmol Scand 2007 May;85(3):287-97. doi: 10.1111/j.1600-0420.2006.00820.x. PMID: 17488458
Grøndahl J
Acta Ophthalmol (Copenh) 1987 Jun;65(3):344-51. doi: 10.1111/j.1755-3768.1987.tb08517.x. PMID: 3618160

Clinical prediction guides

Sumaroka A, Cideciyan AV, Charng J, Wu V, Powers CA, Iyer BS, Lisi B, Swider M, Jacobson SG
Int J Mol Sci 2019 Oct 27;20(21) doi: 10.3390/ijms20215344. PMID: 31717845Free PMC Article
Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE
Acta Ophthalmol 2010 May;88(3):323-8. Epub 2009 Jan 30 doi: 10.1111/j.1755-3768.2008.01465.x. PMID: 19183411

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...