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Phakodonesis

MedGen UID:
754414
Concept ID:
C2939415
Disease or Syndrome
Synonym: Phacodonesis
SNOMED CT: Phacodonesis (116669003)
 
HPO: HP:0012629

Definition

Tremulousness (trembling) of the lens of the eye. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPhakodonesis

Conditions with this feature

Pseudoexfoliation glaucoma
MedGen UID:
60133
Concept ID:
C0206368
Disease or Syndrome
Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated with severe chronic secondary open-angle glaucoma and cataract. XFS syndrome may affect up to 30% of people over 60 years of age worldwide and is biomicroscopically diagnosed by abnormal microfibrillar deposits on ocular structures that line the aqueous-bathed surfaces of the anterior segment (summary by Schlotzer-Schrehardt and Naumann, 2006).
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
MedGen UID:
330396
Concept ID:
C1832167
Disease or Syndrome
Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera (Patel et al., 2014).
Weill-Marchesani 4 syndrome, recessive
MedGen UID:
416383
Concept ID:
C2750787
Disease or Syndrome
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.

Recent clinical studies

Etiology

Phylactou M, Matarazzo F, Day AC, Hussain B, Maurino V
Graefes Arch Clin Exp Ophthalmol 2020 Dec;258(12):2753-2759. Epub 2020 Sep 4 doi: 10.1007/s00417-020-04915-1. PMID: 32886164
Theodoropoulou S, Grzeda MT, Donachie PHJ, Johnston RL, Sparrow JM, Tole DM
Eye (Lond) 2019 Jul;33(7):1161-1170. Epub 2019 Mar 11 doi: 10.1038/s41433-019-0389-z. PMID: 30858564Free PMC Article
Shastri L, Vasavada A
J Cataract Refract Surg 2001 Oct;27(10):1629-37. doi: 10.1016/s0886-3350(01)00960-9. PMID: 11687363
Moreno J, Duch S, Lajara J
Acta Ophthalmol (Copenh) 1993 Apr;71(2):181-4. doi: 10.1111/j.1755-3768.1993.tb04987.x. PMID: 8333262
Futa R, Furuyoshi N
Jpn J Ophthalmol 1989;33(3):311-7. PMID: 2796011

Diagnosis

Phylactou M, Matarazzo F, Day AC, Hussain B, Maurino V
Graefes Arch Clin Exp Ophthalmol 2020 Dec;258(12):2753-2759. Epub 2020 Sep 4 doi: 10.1007/s00417-020-04915-1. PMID: 32886164
Futa R, Shimizu T, Furuyoshi N, Nishiyama M, Hagihara O
Acta Ophthalmol (Copenh) 1992 Apr;70(2):214-9. doi: 10.1111/j.1755-3768.1992.tb04126.x. PMID: 1609570

Therapy

Theodoropoulou S, Grzeda MT, Donachie PHJ, Johnston RL, Sparrow JM, Tole DM
Eye (Lond) 2019 Jul;33(7):1161-1170. Epub 2019 Mar 11 doi: 10.1038/s41433-019-0389-z. PMID: 30858564Free PMC Article
Bleckmann H, Hanuschik W, Vogt R
J Cataract Refract Surg 1990 Jul;16(4):485-9. doi: 10.1016/s0886-3350(13)80804-8. PMID: 2380931

Prognosis

Theodoropoulou S, Grzeda MT, Donachie PHJ, Johnston RL, Sparrow JM, Tole DM
Eye (Lond) 2019 Jul;33(7):1161-1170. Epub 2019 Mar 11 doi: 10.1038/s41433-019-0389-z. PMID: 30858564Free PMC Article
Futa R, Shimizu T, Furuyoshi N, Nishiyama M, Hagihara O
Acta Ophthalmol (Copenh) 1992 Apr;70(2):214-9. doi: 10.1111/j.1755-3768.1992.tb04126.x. PMID: 1609570
Bleckmann H, Hanuschik W, Vogt R
J Cataract Refract Surg 1990 Jul;16(4):485-9. doi: 10.1016/s0886-3350(13)80804-8. PMID: 2380931
Futa R, Furuyoshi N
Jpn J Ophthalmol 1989;33(3):311-7. PMID: 2796011

Clinical prediction guides

Shastri L, Vasavada A
J Cataract Refract Surg 2001 Oct;27(10):1629-37. doi: 10.1016/s0886-3350(01)00960-9. PMID: 11687363

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