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Impaired convergence

MedGen UID:
78768
Concept ID:
C0271379
Disease or Syndrome; Finding
Synonyms: Convergence Insufficiencies; Convergence Insufficiency; Insufficiencies, Convergence; Insufficiency, Convergence
SNOMED CT: Convergence insufficiency (194131002); CI - Convergence insufficiency (194131002)
 
HPO: HP:0000619

Definition

Reduced ability to turn the eyes inward in order to focus on a nearby object. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImpaired convergence

Conditions with this feature

Duane syndrome type 1
MedGen UID:
201329
Concept ID:
C0994516
Disease or Syndrome
Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.
Duane-radial ray syndrome
MedGen UID:
301647
Concept ID:
C1623209
Disease or Syndrome
SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS) – three phenotypes previously thought to be distinct entities. DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs, hypoplasia or aplasia of the radii, shortening and radial deviation of the forearms, triphalangeal thumbs, and duplication of the thumb (preaxial polydactyly). AROS is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesicoureteral reflux, bladder diverticula), ocular coloboma, and Duane anomaly. Rarely, pathogenic variants in SALL4 may cause clinically typical HOS (i.e., radial ray malformations and cardiac malformations without additional features).

Professional guidelines

PubMed

Cole SR, Honaker JA
Cleve Clin J Med 2022 Nov 1;89(11):653-662. doi: 10.3949/ccjm.89a.21057. PMID: 36319052
Coughlin DG, Litvan I
Parkinsonism Relat Disord 2020 Apr;73:105-116. Epub 2020 May 25 doi: 10.1016/j.parkreldis.2020.04.014. PMID: 32487421Free PMC Article
Karaa A, Goldstein A
Pediatr Diabetes 2015 Feb;16(1):1-9. Epub 2014 Oct 20 doi: 10.1111/pedi.12223. PMID: 25330715

Recent clinical studies

Etiology

al-Qurainy IA
Br J Oral Maxillofac Surg 1995 Apr;33(2):71-5. doi: 10.1016/0266-4356(95)90203-1. PMID: 7772590

Diagnosis

Chenji G, Figgie MP, Rondinelli M, Ticku H, Fotedar N
Neurology 2023 Feb 7;100(6):301-306. Epub 2022 Nov 8 doi: 10.1212/WNL.0000000000201534. PMID: 36347627Free PMC Article
Kim KT, Baek SH, Lee SU, Kim JB, Kim JS
Neurology 2022 Apr 19;98(16):678-683. Epub 2022 Feb 28 doi: 10.1212/WNL.0000000000200141. PMID: 35228336
Dysli M, Fierz FC, Rappoport D, Meier TS, Landau K, Bockisch CJ, Weber KP
Strabismus 2021 Mar;29(1):1-9. Epub 2021 Feb 16 doi: 10.1080/09273972.2020.1871382. PMID: 33591220
Uzawa A, Takeda Y, Kuwabara S
Neurologist 2020 May;25(3):82-84. doi: 10.1097/NRL.0000000000000271. PMID: 32358467
Al-Sofiani M, Lee Kwen P
Am J Case Rep 2015 Oct 8;16:715-8. doi: 10.12659/AJCR.893875. PMID: 26447784Free PMC Article

Therapy

al-Qurainy IA
Br J Oral Maxillofac Surg 1995 Apr;33(2):71-5. doi: 10.1016/0266-4356(95)90203-1. PMID: 7772590

Prognosis

Shao M, Liu ZZ, Wang CD, Li HY, Carron C, Zhang HW, Shi DL
Development 2009 Jun;136(12):2121-31. doi: 10.1242/dev.032649. PMID: 19465602

Clinical prediction guides

Shao M, Liu ZZ, Wang CD, Li HY, Carron C, Zhang HW, Shi DL
Development 2009 Jun;136(12):2121-31. doi: 10.1242/dev.032649. PMID: 19465602

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