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Bull eye maculopathy

MedGen UID:
321812
Concept ID:
C1828210
Disease or Syndrome; Finding
Synonym: Bull's eye maculopathy
SNOMED CT: Bull's eye maculopathy (424169002); Bull's-eye maculopathy (424169002)
 
HPO: HP:0011504

Definition

Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBull eye maculopathy
Follow this link to review classifications for Bull eye maculopathy in Orphanet.

Conditions with this feature

Cohen syndrome
MedGen UID:
78539
Concept ID:
C0265223
Congenital Abnormality
Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features.
Cone-rod dystrophy 11
MedGen UID:
322767
Concept ID:
C1835865
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.
Leber congenital amaurosis 6
MedGen UID:
344245
Concept ID:
C1854260
Congenital Abnormality
Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.
Severe early-childhood-onset retinal dystrophy
MedGen UID:
383691
Concept ID:
C1855465
Disease or Syndrome
Stargardt disease-1 (STGD1) is an autosomal recessive retinal disease that usually presents as a juvenile-onset macular dystrophy with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks, defined as lipofuscin deposits, around the macula and/or in the central and near-peripheral areas of the retina (summary by Lee et al., 2021). Genetic Heterogeneity of Stargardt Disease Stargardt disease-3 (STGD3; 600110) is caused by mutation in the ELOVL4 gene (605512) on chromosome 6q14, and Stargardt disease-4 (STGD4; 603786) is caused by mutation in the PROM1 gene (604365) on chromosome 4. A locus for Stargardt disease mapped to chromosome 13q34 and designated STGD2 was found to be in error; the disorder in the family in which the linkage was made was correctly mapped to chromosome 6q14 (STGD3). Fundus flavimaculatus (FFM) is an allelic subtype of Stargardt disease that has been associated with mutation in the ABCA4 gene and the PRPH2 gene (179605). FFM has a later age of onset. If loss of visual acuity begins in the first 2 decades, the designation Stargardt disease is preferred; if it begins later in life and has a more progressive course, the term FFM is preferred (Weleber, 1994). An early-onset severe form of retinal dystrophy (CORD3; 604116) is caused by homozygous null mutations in the ABCA4 gene.
Cone-rod dystrophy 3
MedGen UID:
349030
Concept ID:
C1858806
Disease or Syndrome
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.
Cone-rod dystrophy 7
MedGen UID:
355026
Concept ID:
C1863634
Disease or Syndrome
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.\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\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.
Retinitis pigmentosa 10
MedGen UID:
357247
Concept ID:
C1867299
Disease or Syndrome
Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses (Jordan et al., 1993; Bowne et al., 2002; Bowne et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinal cone dystrophy type 1
MedGen UID:
356747
Concept ID:
C1867326
Disease or Syndrome
Cone-rod dystrophy 12
MedGen UID:
393334
Concept ID:
C2675210
Disease or Syndrome
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.\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\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.
Retinitis pigmentosa 2
MedGen UID:
394544
Concept ID:
C2681923
Disease or Syndrome
Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 62
MedGen UID:
481672
Concept ID:
C3280042
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene.
Usher syndrome type 3B
MedGen UID:
482696
Concept ID:
C3281066
Disease or Syndrome
Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1983; Pakarinen et al., 1995). For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (276902).
Macular dystrophy with central cone involvement
MedGen UID:
863808
Concept ID:
C4015371
Disease or Syndrome
Cone-rod dystrophy 22
MedGen UID:
1794199
Concept ID:
C5561989
Disease or Syndrome
Cone-rod dystrophy-22 (CORD22) is a retinal dystrophy characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life. There is significant degeneration of the macula, as well as generalized cone system involvement that predominates over rod system dysfunction, including in the peripheral retina (Bertrand et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of CORD, see CORD2 (120970).
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
MedGen UID:
1808104
Concept ID:
C5677021
Disease or Syndrome
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter. Facial dysmorphisms include flat face, hypertelorism, epicanthal folds, synophrys, broad nasal bridge, cleft lip and cleft palate, and low-set posteriorly rotated ears. Patients also exhibit short neck and multiple costal and vertebral anomalies. The face is rather characteristic, and various authors have consistently reported affable/friendly personality, despite intellectual delay (summary by Alanay et al., 2014). Genetic Heterogeneity of Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome CFSMR2 (616994) is caused by mutation in the RAB5IF gene (619960) on chromosome 20q11.
Combined oxidative phosphorylation deficiency 57
MedGen UID:
1824048
Concept ID:
C5774275
Disease or Syndrome
Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from premature death in infancy to permanent disability in young adulthood (Lee et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).

Professional guidelines

PubMed

Cook HL, Patel PJ, Tufail A
Br Med Bull 2008;85:127-49. doi: 10.1093/bmb/ldn012. PMID: 18334518
Roodhooft J
Bull Soc Belge Ophtalmol 2000;276:83-92. PMID: 10925530
Adank AM, Hennekes R
Bull Soc Belge Ophtalmol 1994;254:37-40. PMID: 7493121

Recent clinical studies

Etiology

Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Jain S, Jain NG
BMJ Case Rep 2017 Jun 8;2017 doi: 10.1136/bcr-2017-220598. PMID: 28596207Free PMC Article
Geamănu Pancă A, Popa-Cherecheanu A, Marinescu B, Geamănu CD, Voinea LM
J Med Life 2014 Sep 15;7(3):322-6. Epub 2014 Sep 25 PMID: 25408748Free PMC Article
Cook HL, Patel PJ, Tufail A
Br Med Bull 2008;85:127-49. doi: 10.1093/bmb/ldn012. PMID: 18334518
Kohner EM
Br Med Bull 1989 Jan;45(1):148-73. doi: 10.1093/oxfordjournals.bmb.a072309. PMID: 2477110

Diagnosis

Said S, Blaser F, Link B, Gunzinger JM, Hanson J, Fasler K, Muth DR, Barthelmes D, Zweifel S
Klin Monbl Augenheilkd 2024 Apr;241(4):463-467. Epub 2024 Apr 23 doi: 10.1055/a-2243-4636. PMID: 38653277
Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Modi YS, Singh RP
N Engl J Med 2019 Apr 25;380(17):1656. doi: 10.1056/NEJMicm1412167. PMID: 31018071
Cook HL, Patel PJ, Tufail A
Br Med Bull 2008;85:127-49. doi: 10.1093/bmb/ldn012. PMID: 18334518
Verougstraete C
Bull Soc Belge Ophtalmol 2001;(279):67-78. PMID: 11344717

Therapy

Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Modi YS, Singh RP
N Engl J Med 2019 Apr 25;380(17):1656. doi: 10.1056/NEJMicm1412167. PMID: 31018071
Nakahara T, Morita A, Yagasaki R, Mori A, Sakamoto K
Biol Pharm Bull 2017;40(12):2045-2049. doi: 10.1248/bpb.b17-00475. PMID: 29199229
Drug Ther Bull 2006 Feb;44(2):9-11. doi: 10.1136/dtb.2006.4429. PMID: 16550811
Lai WW, Lam DS
Hong Kong Med J 2005 Feb;11(1):55-7. PMID: 15687518

Prognosis

González-Gómez A, Romero-Trevejo JL, García-Ben A, García-Campos JM
Ophthalmic Genet 2019 Feb;40(1):71-73. Epub 2018 Dec 27 doi: 10.1080/13816810.2018.1561903. PMID: 30589393
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27. PMID: 30578500
Marmor MF
Ophthalmic Surg Lasers Imaging Retina 2017 Feb 1;48(2):96-98. doi: 10.3928/23258160-20170130-01. PMID: 28195610
Geamănu Pancă A, Popa-Cherecheanu A, Marinescu B, Geamănu CD, Voinea LM
J Med Life 2014 Sep 15;7(3):322-6. Epub 2014 Sep 25 PMID: 25408748Free PMC Article
Grey RH, Blach RK, Barnard WM
Br J Ophthalmol 1977 Nov;61(11):702-18. doi: 10.1136/bjo.61.11.702. PMID: 588526Free PMC Article

Clinical prediction guides

Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ
Genes (Basel) 2023 May 8;14(5) doi: 10.3390/genes14051057. PMID: 37239417Free PMC Article
Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Yacout SM, McIlwain KL, Mirza SP, Gaillard ER
Photochem Photobiol 2019 Jan;95(1):183-191. Epub 2018 Jun 7 doi: 10.1111/php.12934. PMID: 29752877
Qi M, Abdelatti M, Krilis M, Madigan MC, Weaver J, Guymer RH, McCluskey P, Wang Y, Zhou S, Krilis SA, Giannakopoulos B
Antioxid Redox Signal 2016 Jan 1;24(1):32-8. Epub 2015 May 4 doi: 10.1089/ars.2014.6052. PMID: 25827171
Azarian SM, Travis GH
FEBS Lett 1997 Jun 9;409(2):247-52. doi: 10.1016/s0014-5793(97)00517-6. PMID: 9202155

Recent systematic reviews

Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article

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