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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
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.
Severe early-childhood-onset retinal dystrophy
MedGen UID:
383691
Concept ID:
C1855465
Disease or Syndrome
Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for the type of vision needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment called lipofuscin builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear vision. People with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.
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\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\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).
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\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\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).
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

Mori Y, Yamamoto A, Nakagawa A, Hikima T, Isowaki A
Biol Pharm Bull 2023 Jul 1;46(7):921-928. Epub 2023 May 11 doi: 10.1248/bpb.b23-00066. PMID: 37164692
Sivaprasad S, Hykin P
Br Med Bull 2013;105:201-11. Epub 2013 Feb 7 doi: 10.1093/bmb/ldt004. PMID: 23393060
Cook HL, Patel PJ, Tufail A
Br Med Bull 2008;85:127-49. doi: 10.1093/bmb/ldn012. PMID: 18334518

Recent clinical studies

Etiology

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
Duncker T, Tsang SH, Lee W, Zernant J, Allikmets R, Delori FC, Sparrow JR
Ophthalmology 2015 Feb;122(2):345-55. Epub 2014 Oct 3 doi: 10.1016/j.ophtha.2014.08.017. PMID: 25283059Free PMC Article
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ
Ophthalmology 2012 Apr;119(4):819-26. Epub 2012 Jan 20 doi: 10.1016/j.ophtha.2011.10.011. PMID: 22264887
Cook HL, Patel PJ, Tufail A
Br Med Bull 2008;85:127-49. doi: 10.1093/bmb/ldn012. PMID: 18334518

Diagnosis

Romano F, Lamanna F, Boon CJF, Siligato A, Kalra G, Agarwal A, Medori C, Bertelli M, Pellegrini M, Invernizzi A, Staurenghi G, Salvetti AP
Ophthalmol Retina 2024 May;8(5):509-519. Epub 2023 Nov 3 doi: 10.1016/j.oret.2023.10.023. PMID: 37924945
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
Eldeeb M, Chan EW, Omar A
Optom Vis Sci 2018 Jun;95(6):545-549. doi: 10.1097/OPX.0000000000001226. PMID: 29787487
Griffith JF, DeBenedictis MJ, Traboulsi EI
Ophthalmic Genet 2018 Jan-Feb;39(1):120-124. Epub 2017 Sep 25 doi: 10.1080/13816810.2017.1373831. PMID: 28945142
Miyake Y, Horiguchi M, Tomita N, Kondo M, Tanikawa A, Takahashi H, Suzuki S, Terasaki H
Am J Ophthalmol 1996 Nov;122(5):644-53. doi: 10.1016/s0002-9394(14)70482-9. PMID: 8909203

Therapy

Wang X, Hui Q, Jin Z, Rao F, Yu B, Jin L, Banda J, Li X
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Nov 25;51(5):626-633. doi: 10.3724/zdxbyxb-2022-0075. PMID: 36581569Free 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
Eldeeb M, Chan EW, Omar A
Optom Vis Sci 2018 Jun;95(6):545-549. doi: 10.1097/OPX.0000000000001226. PMID: 29787487
Li J, Tripathi RC, Tripathi BJ
Drug Saf 2008;31(2):127-41. doi: 10.2165/00002018-200831020-00003. PMID: 18217789
Weiner A, Sandberg MA, Gaudio AR, Kini MM, Berson EL
Am J Ophthalmol 1991 Nov 15;112(5):528-34. doi: 10.1016/s0002-9394(14)76853-9. PMID: 1951589

Prognosis

Radun V, Berlin A, Tarau IS, Kleefeldt N, Reichel C, Hillenkamp J, Holz FG, Sloan KR, Saßmannshausen M, Ach T
Transl Vis Sci Technol 2023 Jul 3;12(7):8. doi: 10.1167/tvst.12.7.8. PMID: 37418250Free PMC Article
Gliem M, Müller PL, Birtel J, Herrmann P, McGuinness MB, Holz FG, Charbel Issa P
Ophthalmol Retina 2020 Jul;4(7):737-749. Epub 2020 Feb 27 doi: 10.1016/j.oret.2020.02.009. PMID: 32646556
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27. PMID: 30578500
DCCT/EDIC Research Group, Nathan DM, Bebu I, Hainsworth D, Klein R, Tamborlane W, Lorenzi G, Gubitosi-Klug R, Lachin JM
N Engl J Med 2017 Apr 20;376(16):1507-1516. doi: 10.1056/NEJMoa1612836. PMID: 28423305Free PMC Article
West S, Sommer A
Bull World Health Organ 2001;79(3):244-8. Epub 2003 Jul 7 PMID: 11285670Free PMC Article

Clinical prediction guides

Radun V, Berlin A, Tarau IS, Kleefeldt N, Reichel C, Hillenkamp J, Holz FG, Sloan KR, Saßmannshausen M, Ach T
Transl Vis Sci Technol 2023 Jul 3;12(7):8. doi: 10.1167/tvst.12.7.8. PMID: 37418250Free 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
Otsuka Y, Oishi A, Miyata M, Oishi M, Hasegawa T, Numa S, Ikeda HO, Tsujikawa A
Sci Rep 2020 Sep 9;10(1):14798. doi: 10.1038/s41598-020-71707-2. PMID: 32908200Free PMC Article
Nõupuu K, Lee W, Zernant J, Greenstein VC, Tsang S, Allikmets R
Graefes Arch Clin Exp Ophthalmol 2016 May;254(5):865-72. Epub 2015 Aug 28 doi: 10.1007/s00417-015-3142-8. PMID: 26311262Free PMC Article
West S, Sommer A
Bull World Health Organ 2001;79(3):244-8. Epub 2003 Jul 7 PMID: 11285670Free PMC Article

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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