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Paracentral scotoma

MedGen UID:
75740
Concept ID:
C0271197
Finding
Synonyms: Paracentral Scotoma; Paracentral Scotomas; Scotoma, Paracentral; Scotomas, Paracentral
SNOMED CT: Paracentral scotoma (64418005)
 
HPO: HP:0030528

Term Hierarchy

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

Conditions with this feature

Peripheral cone dystrophy
MedGen UID:
323031
Concept ID:
C1836946
Disease or Syndrome
Bietti crystalline corneoretinal dystrophy
MedGen UID:
347895
Concept ID:
C1859486
Disease or Syndrome
Bietti crystalline dystrophy (BCD) is a chorioretinal degeneration characterized by the presence of yellow-white crystals and/or complex lipid deposits in the retina and (to a variable degree) the cornea. Progressive atrophy and degeneration of the retinal pigment epithelium (RPE) / choroid lead to symptoms similar to those of other forms of retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders, namely: reduced visual acuity, poor night vision, abnormal retinal electrophysiology, visual field loss, and often impaired color vision. Marked asymmetry between eyes is not uncommon. Onset is typically during the second to third decade of life, but ranges from the early teenage years to beyond the third decade. With time, loss of peripheral visual field, central acuity, or both result in legal blindness in most if not all affected individuals.
Optic atrophy 9
MedGen UID:
898858
Concept ID:
C4225384
Disease or Syndrome
Optic atrophy-9 (OPA9) is characterized by onset of decreased visual acuity and optic disc pallor in the first decade of life, with severely reduced visual acuity and color vision deficits observed in the third decade. Although initially described as an autosomal recessive disease (Metodiev et al., 2014; Kelman et al., 2018; Gibson et al., 2020), autosomal dominant cases of OPA9 have also been reported (Charif et al., 2021). Mutation in the ACO2 gene also causes a neurodegenerative disorder, infantile cerebellar-retinal degeneration (ICRD; 614559), of which optic atrophy is a feature. Dominant and Recessive OPA9 From a cohort of approximately 1,000 patients with optic atrophy, Charif et al. (2021) identified 50 probands with dominant mutations in the ACO2 gene, and 11 patients with biallelic variants. There was no significant difference in distribution of mutation type, with two-thirds of all variants being missense mutations in both groups, and nonsense, frameshift, and splice site mutations comprising the remaining third. Age at onset of symptoms occurred during the first 2 decades, without significant difference between dominant and recessive cases. Visual acuity was significantly more affected in recessive cases than in dominant ones, with more than 60% of eyes from the recessive group having a visual acuity lower than 20/200, whereas more than 80% of eyes from the dominant group had a visual acuity above 20/200. Analysis of the optic disc as well as retinal nerve fiber layer thickness measurements indicated a preferential involvement of the temporal quadrant in both patient groups. Assessment of color vision revealed highly variable alterations, including protan, deutan, and tritan types of dyschromatopsia. Some patients had additional retinal changes, including macular microcysts as well as macular dystrophy in 1 case. Extraocular symptoms were observed in 6 (12%) of the dominant cases and in 3 (27%) of the recessive cases, including hearing impairment in 2 dominant cases, and late-onset cerebellar ataxia in 1 dominant case and in 1 recessive case.
Retinitis pigmentosa 92
MedGen UID:
1794232
Concept ID:
C5562022
Disease or Syndrome
Retinitis pigmentosa-92 (RP92) is characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life. Patients show abnormal pigmentation of the retina and have reduced scotopic responses on electroretinography (Zhang et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000.
Chromosome 16q12 duplication syndrome
MedGen UID:
1794292
Concept ID:
C5562082
Disease or Syndrome
Chromosome 16q12 duplication syndrome is characterized by early-onset progressive cone dystrophy, with early blue cone involvement. Patients report reduced visual acuity in the first decade of life, as well as difficulty differentiating colors, photophobia, and reduced night vision (Kohl et al., 2021). Tritanopia can also be caused by heterozygous mutation in the OPN1SW gene (613522) on chromosome 7q32 (see 190900).

Professional guidelines

PubMed

Han J, Li Y, You Y, Fan K, Lei B
BMC Ophthalmol 2022 Jul 26;22(1):322. doi: 10.1186/s12886-022-02546-0. PMID: 35883160Free PMC Article
Özmert E, Arslan U
Adv Ther 2019 Sep;36(9):2273-2286. Epub 2019 Aug 5 doi: 10.1007/s12325-019-01040-2. PMID: 31385285
Padidam S, Burke MT, Apple DB, Hu JK, Lin X
JAMA Ophthalmol 2019 May 1;137(5):568-570. doi: 10.1001/jamaophthalmol.2019.0374. PMID: 30920588Free PMC Article

Recent clinical studies

Etiology

Song D, Choi DJ, Bhatt N
Retin Cases Brief Rep 2023 Jul 1;17(4):340-342. doi: 10.1097/ICB.0000000000001198. PMID: 34618713
Ahn SJ, Yang L, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Nakamura N, Iwata T, Kim MS, Mun Y, Park JY, Joo K, Park KH, Miyake Y, Sui R, Fujinami K, Woo SJ; East Asia Inherited Retinal Disease Society Study Group
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):12. doi: 10.1167/iovs.63.1.12. PMID: 34994768Free PMC Article
Scharf J, Freund KB, Sadda S, Sarraf D
Prog Retin Eye Res 2021 Mar;81:100884. Epub 2020 Aug 9 doi: 10.1016/j.preteyeres.2020.100884. PMID: 32783959
Khurana RN, Patel VR
Am J Ophthalmol 2020 Nov;219:163-169. Epub 2020 Jul 2 doi: 10.1016/j.ajo.2020.06.026. PMID: 32621893
Müller S, Heeren TFC, Nadal J, Charbel Issa P, Herrmann P, Holz FG, Wabbels BK
Ophthalmologica 2019;241(3):121-129. Epub 2018 Sep 7 doi: 10.1159/000492134. PMID: 30196286

Diagnosis

Song D, Choi DJ, Bhatt N
Retin Cases Brief Rep 2023 Jul 1;17(4):340-342. doi: 10.1097/ICB.0000000000001198. PMID: 34618713
Kılıç Müftüoğlu İ, Önder Tokuç E, Karabaş VL
Turk J Ophthalmol 2021 Dec 28;51(6):403-406. doi: 10.4274/tjo.galenos.2021.50207. PMID: 34963271Free PMC Article
Khurana RN, Patel VR
Am J Ophthalmol 2020 Nov;219:163-169. Epub 2020 Jul 2 doi: 10.1016/j.ajo.2020.06.026. PMID: 32621893
Müller S, Heeren TFC, Nadal J, Charbel Issa P, Herrmann P, Holz FG, Wabbels BK
Ophthalmologica 2019;241(3):121-129. Epub 2018 Sep 7 doi: 10.1159/000492134. PMID: 30196286
Hamm C, Shechtman D, Reynolds S
Clin Exp Optom 2017 Nov;100(6):563-568. Epub 2017 Apr 23 doi: 10.1111/cxo.12540. PMID: 28436087

Therapy

Abu Serhan H, Abu Suilik H, Hassan AK, AlSamhori JF, Hassan AR, Siddiq A, Ahmed N, Elnahry AG
Int Ophthalmol 2024 Apr 23;44(1):189. doi: 10.1007/s10792-024-03119-4. PMID: 38652153Free PMC Article
Hasani H, Sheikhghomi S, Ojani M
Cesk Slov Oftalmol 2023 Spring;79(2):102-106. doi: 10.31348/2023/16. PMID: 37072258
Sebastiani S, Pellegrini M, Giannaccare G, Sarraf D
Retin Cases Brief Rep 2021 Sep 1;15(5):519-522. doi: 10.1097/ICB.0000000000000839. PMID: 30365416
Khurana RN, Patel VR
Am J Ophthalmol 2020 Nov;219:163-169. Epub 2020 Jul 2 doi: 10.1016/j.ajo.2020.06.026. PMID: 32621893
Stelton CR, Connors DB, Walia SS, Walia HS
Clin Rheumatol 2013 Jun;32(6):895-8. Epub 2013 Mar 21 doi: 10.1007/s10067-013-2226-2. PMID: 23515601

Prognosis

Miller CG, Brucker AJ, Perry LM, Kim BJ, Martin ME, Frey NV, Aleman TS
Retin Cases Brief Rep 2023 Nov 1;17(6):683-689. doi: 10.1097/ICB.0000000000001294. PMID: 37903306
Sebastiani S, Pellegrini M, Giannaccare G, Sarraf D
Retin Cases Brief Rep 2021 Sep 1;15(5):519-522. doi: 10.1097/ICB.0000000000000839. PMID: 30365416
Jin SW, Seo HR, Rho SS, Rho SH
Semin Ophthalmol 2017;32(4):504-510. Epub 2016 Apr 29 doi: 10.3109/08820538.2015.1123733. PMID: 27128963
Hangai M, Ikeda HO, Akagi T, Yoshimura N
Jpn J Ophthalmol 2014 Mar;58(2):188-96. Epub 2014 Jan 21 doi: 10.1007/s10384-013-0298-9. PMID: 24442888
Lee J, Hangai M, Kimura Y, Takayama K, Kee C, Yoshimura N
Graefes Arch Clin Exp Ophthalmol 2013 Aug;251(8):2003-12. Epub 2013 Apr 26 doi: 10.1007/s00417-013-2344-1. PMID: 23620092

Clinical prediction guides

Capuano V, Forte P, Sacconi R, Miere A, Mehanna CJ, Barone C, Bandello F, Souied EH, Querques G
Eur J Ophthalmol 2023 May;33(3):NP105-NP111. Epub 2022 Mar 31 doi: 10.1177/11206721221090697. PMID: 35360952Free PMC Article
Ahn SJ, Yang L, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Nakamura N, Iwata T, Kim MS, Mun Y, Park JY, Joo K, Park KH, Miyake Y, Sui R, Fujinami K, Woo SJ; East Asia Inherited Retinal Disease Society Study Group
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):12. doi: 10.1167/iovs.63.1.12. PMID: 34994768Free PMC Article
Kim HM, Park YJ, Park KH, Woo SJ
PLoS One 2019;14(1):e0209118. Epub 2019 Jan 3 doi: 10.1371/journal.pone.0209118. PMID: 30605464Free PMC Article
Müller S, Heeren TFC, Nadal J, Charbel Issa P, Herrmann P, Holz FG, Wabbels BK
Ophthalmologica 2019;241(3):121-129. Epub 2018 Sep 7 doi: 10.1159/000492134. PMID: 30196286
Hangai M, Ikeda HO, Akagi T, Yoshimura N
Jpn J Ophthalmol 2014 Mar;58(2):188-96. Epub 2014 Jan 21 doi: 10.1007/s10384-013-0298-9. PMID: 24442888

Recent systematic reviews

Abu Serhan H, Abu Suilik H, Hassan AK, AlSamhori JF, Hassan AR, Siddiq A, Ahmed N, Elnahry AG
Int Ophthalmol 2024 Apr 23;44(1):189. doi: 10.1007/s10792-024-03119-4. PMID: 38652153Free PMC Article

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