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Ring scotoma

MedGen UID:
140951
Concept ID:
C0438434
Finding
Synonyms: Ring Scotoma; Ring Scotomas; Scotoma, Ring; Scotomas, Ring
SNOMED CT: Ring scotoma (129625005)
 
HPO: HP:0030529

Definition

An annular field defect centered on fixation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRing scotoma

Conditions with this feature

Posterior column ataxia-retinitis pigmentosa syndrome
MedGen UID:
324636
Concept ID:
C1836916
Disease or Syndrome
Posterior column ataxia with retinitis pigmentosa (AXPC1) is an autosomal recessive neurologic disorder characterized by childhood-onset retinitis pigmentosa and later onset of gait ataxia due to sensory loss (summary by Ishiura et al., 2011).
Newfoundland cone-rod dystrophy
MedGen UID:
334840
Concept ID:
C1843815
Disease or Syndrome
Newfoundland rod-cone dystrophy (NFRCD) is a severe retinal dystrophy in which night blindness is present from infancy. Progressive loss of peripheral, central, and color vision begins in childhood and results in severe visual loss by the second to fourth decade of life (Eichers et al., 2002).
Retinitis pigmentosa 3
MedGen UID:
336999
Concept ID:
C1845667
Disease or Syndrome
X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors (Demirci et al., 2002). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP (Jin et al., 2007). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP (Vervoort et al., 2000). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
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 73
MedGen UID:
907690
Concept ID:
C4225287
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.
Retinitis pigmentosa and erythrocytic microcytosis
MedGen UID:
934743
Concept ID:
C4310776
Disease or Syndrome
Features that occur less commonly in people with TRNT1 deficiency include hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss), recurrent seizures (epilepsy), and problems with the kidneys or heart.\n\nTRNT1 deficiency encompasses what was first thought to be two separate disorders, a severe disorder called sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) and a milder disorder called retinitis pigmentosa with erythrocytic microcytosis (RPEM), each named for its most common features. SIFD begins in infancy, and affected individuals usually do not survive past childhood. RPEM, on the other hand, is recognized in early adulthood, and the microcytosis usually does not cause any health problems. However, it has since been recognized that some individuals have a combination of features that fall between these two ends of the severity spectrum. All of these cases are now considered part of TRNT1 deficiency.\n\nNeurological problems are also frequent in TRNT1 deficiency. Many affected individuals have delayed development of speech and motor skills, such as sitting, standing, and walking, and some have low muscle tone (hypotonia).\n\nEye abnormalities, often involving the light-sensing tissue at the back of the eye (the retina), can occur in people with TRNT1 deficiency. Some of these individuals have a condition called retinitis pigmentosa, in which the light-sensing cells of the retina gradually deteriorate. Eye problems in TRNT1 deficiency can lead to vision loss.\n\nIn addition, many individuals with TRNT1 deficiency have recurrent fevers that are not caused by an infection. These fever episodes are often one of the earliest recognized symptoms of TRNT1 deficiency, usually beginning in infancy. The fever episodes are typically accompanied by poor feeding, vomiting, and diarrhea, and can lead to hospitalization. In many affected individuals, the episodes occur regularly, arising approximately every 2 to 4 weeks and lasting 5 to 7 days, although the frequency can decrease with age.\n\nMany people with TRNT1 deficiency have an immune system disorder (immunodeficiency) that can lead to recurrent bacterial infections. Repeated infections can cause life-threatening damage to internal organs. The immunodeficiency is characterized by low numbers of immune system cells called B cells, which normally help fight infections by producing immune proteins called antibodies (or immunoglobulins). These proteins target foreign invaders such as bacteria and viruses and mark them for destruction. In many individuals with TRNT1 deficiency, the amount of immunoglobulins is also low (hypogammaglobulinemia).\n\nA common feature of TRNT1 deficiency is a blood condition called sideroblastic anemia, which is characterized by a shortage of red blood cells (anemia). In TRNT1 deficiency, the red blood cells that are present are unusually small (erythrocytic microcytosis). In addition, developing red blood cells in the bone marrow (erythroblasts) can have an abnormal buildup of iron that appears as a ring of blue staining in the cell after treatment in the lab with certain dyes. These abnormal cells are called ring sideroblasts.\n\nTRNT1 deficiency is a condition that affects many body systems. Its signs and symptoms can involve blood cells, the immune system, the eyes, and the nervous system. The severity of the signs and symptoms vary widely.
Usher syndrome, type 4
MedGen UID:
1648315
Concept ID:
C4748364
Disease or Syndrome
An atypical form of Usher syndrome, here designated type IV (USH4), is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement (summary by Khateb et al., 2018). For a discussion of genetic heterogeneity of Usher syndrome, see 276900.

Professional guidelines

PubMed

De Salvo G, Vaz-Pereira S, Arora R, Lotery AJ
Eye (Lond) 2017 Jan;31(1):127-131. Epub 2016 Sep 30 doi: 10.1038/eye.2016.193. PMID: 27689963Free PMC Article
Liu X, Chen B, Zhang M, Huang H
Eye Sci 2014 Sep;29(3):143-50. PMID: 26011969
Shulman M, Sepah YJ, Chang S, Abrams GW, Do DV, Nguyen QD
Ophthalmic Surg Lasers Imaging Retina 2013 Nov 1;44(6):577-83. doi: 10.3928/23258160-20131105-07. PMID: 24221464

Recent clinical studies

Etiology

Jo WG, Lee CS, Han J
Korean J Ophthalmol 2023 Aug;37(4):285-291. Epub 2023 Jun 19 doi: 10.3341/kjo.2023.0020. PMID: 37336512Free PMC Article
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:223-226. doi: 10.1007/978-3-319-95046-4_47. PMID: 30578520
Bowers AR, Bronstad PM, Spano LP, Huq B, Tang X, Doherty A, Peli E, Luo G
Optom Vis Sci 2018 Sep;95(9):785-794. doi: 10.1097/OPX.0000000000001230. PMID: 29863502Free PMC Article
Amore FM, Silvestri V, Turco S, De Rossi F, Cruciani F
Can J Ophthalmol 2013 Oct;48(5):420-6. doi: 10.1016/j.jcjo.2013.07.012. PMID: 24093190
Szlyk JP, Fishman GA, Alexander KR, Peachey NS, Derlacki DJ
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Diagnosis

Jo WG, Lee CS, Han J
Korean J Ophthalmol 2023 Aug;37(4):285-291. Epub 2023 Jun 19 doi: 10.3341/kjo.2023.0020. PMID: 37336512Free PMC Article
Kim KE, Ryu SJ, Kim YH, Seo Y, Ahn SJ
Sci Rep 2022 Aug 30;12(1):14778. doi: 10.1038/s41598-022-19048-0. PMID: 36042337Free PMC Article
Pandova MG, Abduljalil T, Elshafey AE, Abdelmoaty SMA, Albastawisy HI, Bastaki LA, Alsaleh H, Kozak I, AlMerjan JI
Ophthalmic Genet 2022 Aug;43(4):438-445. Epub 2022 Mar 10 doi: 10.1080/13816810.2022.2045509. PMID: 35272565
Hashimoto S, Matsumoto C, Eura M, Okuyama S, Shimomura Y
Jpn J Ophthalmol 2017 Jul;61(4):299-306. Epub 2017 Apr 25 doi: 10.1007/s10384-017-0516-y. PMID: 28444485
Amore FM, Silvestri V, Turco S, De Rossi F, Cruciani F
Can J Ophthalmol 2013 Oct;48(5):420-6. doi: 10.1016/j.jcjo.2013.07.012. PMID: 24093190

Therapy

Maleki A, Fernandez CC, Philip AM, Manhapra A, Chang PY, Foster CS
Eur J Ophthalmol 2023 Sep;33(5):NP35-NP40. Epub 2022 Sep 4 doi: 10.1177/11206721221124653. PMID: 36062613
Kim KE, Ryu SJ, Kim YH, Seo Y, Ahn SJ
Sci Rep 2022 Aug 30;12(1):14778. doi: 10.1038/s41598-022-19048-0. PMID: 36042337Free PMC Article
Grassi MA, Maker MP, Marmor MF
JAMA Ophthalmol 2019 Jan 1;137(1):109-110. doi: 10.1001/jamaophthalmol.2018.3408. PMID: 30452517
Turgut B, Turkcuoglu P, Serdar Koca S, Aydemir O
Clin Rheumatol 2009 May;28(5):607-9. Epub 2009 Feb 17 doi: 10.1007/s10067-009-1108-0. PMID: 19221829
Michaels DD
Ophthalmology 1978 Jan;85(1):59-72. doi: 10.1016/s0161-6420(78)35694-3. PMID: 345172

Prognosis

Maleki A, Fernandez CC, Philip AM, Manhapra A, Chang PY, Foster CS
Eur J Ophthalmol 2023 Sep;33(5):NP35-NP40. Epub 2022 Sep 4 doi: 10.1177/11206721221124653. PMID: 36062613
Aguilar González M, Marín Payá E, García Gil R, Feliciano Sánchez A, Gómez-Lechón Quirós L, España Gregori E
Eur J Ophthalmol 2023 Jul;33(4):NP105-NP110. Epub 2022 Sep 1 doi: 10.1177/11206721221123779. PMID: 36052416
Shimada Y, Horiguchi M, Tanikawa A
Doc Ophthalmol 2021 Feb;142(1):127-132. Epub 2020 Jun 25 doi: 10.1007/s10633-020-09779-8. PMID: 32588162
Amore FM, Silvestri V, Turco S, De Rossi F, Cruciani F
Can J Ophthalmol 2013 Oct;48(5):420-6. doi: 10.1016/j.jcjo.2013.07.012. PMID: 24093190
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Am J Ophthalmol 1997 May;123(5):607-18. doi: 10.1016/s0002-9394(14)71073-6. PMID: 9152066

Clinical prediction guides

Shimada Y, Horiguchi M, Tanikawa A
Doc Ophthalmol 2021 Feb;142(1):127-132. Epub 2020 Jun 25 doi: 10.1007/s10633-020-09779-8. PMID: 32588162
Nasser F, Kohl S, Kuehlewein L, Wissinger B, Obermaier CD, Kurtenbach A, Zrenner E
Doc Ophthalmol 2019 Aug;139(1):75-81. Epub 2019 Apr 20 doi: 10.1007/s10633-019-09698-3. PMID: 31006083
Bowers AR, Bronstad PM, Spano LP, Huq B, Tang X, Doherty A, Peli E, Luo G
Optom Vis Sci 2018 Sep;95(9):785-794. doi: 10.1097/OPX.0000000000001230. PMID: 29863502Free PMC Article
Amore FM, Silvestri V, Turco S, De Rossi F, Cruciani F
Can J Ophthalmol 2013 Oct;48(5):420-6. doi: 10.1016/j.jcjo.2013.07.012. PMID: 24093190
Grover S, Fishman GA, Brown J Jr
Ophthalmology 1998 Jun;105(6):1069-75. doi: 10.1016/S0161-6420(98)96009-2. PMID: 9627658

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