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Hypoplasia of the iris dilator muscle

MedGen UID:
870258
Concept ID:
C4024696
Congenital Abnormality
Synonyms: Hypoplasia of the pupil dilator muscle; Underdeveloped iris dilator muscle; Underdeveloped pupil dilator muscle
 
HPO: HP:0008345

Definition

Underdevelopment of the dilatator pupillae. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplasia of the iris dilator muscle

Conditions with this feature

Congenital miosis
MedGen UID:
227002
Concept ID:
C1303009
Congenital Abnormality
Inherited congenital microcoria, also referred to as congenital miosis, is characterized by bilateral small pupils (diameter less than 2 mm) that result from an underdevelopment of the dilator pupillae muscle of the iris (Holth and Berner, 1923; Simpson and Parsons, 1989). Iris transillumination defects are a constant feature. The pupil dilates poorly or not at all in response to topically administered mydriatic drugs. The disorder is transmitted as an autosomal dominant trait with complete penetrance and is associated with goniodysgenesis and glaucoma (Tawara and Inomata, 1983; Mazzeo et al., 1986; Toulemont et al., 1995).

Recent clinical studies

Etiology

Cui L, Xiao Y, Xiang Z, Chen Z, Yang C, Zou H
BMC Ophthalmol 2024 Feb 2;24(1):52. doi: 10.1186/s12886-024-03322-y. PMID: 38308203Free PMC Article
Baban A, Magliozzi M, Loeys B, Adorisio R, Alesi V, Secinaro A, Corica B, Vricella L, Dietz HC, Drago F, Novelli A, Amodeo A
BMC Med Genet 2018 Sep 15;19(1):170. doi: 10.1186/s12881-018-0661-2. PMID: 30219046Free PMC Article
Arnalich-Montiel F, Pérez-Sarriegui A, Lauzirika G, Porrua L, Hernández-Verdejo JL
Cornea 2017 Mar;36(3):290-294. doi: 10.1097/ICO.0000000000001141. PMID: 28129299
Buys Y, Buncic JR, Enzenauer RW, Mednick E, O'Keefe M
Can J Ophthalmol 1993 Apr;28(2):72-5. PMID: 8508341

Diagnosis

Jones G, Johnson K, Eason J, Hamilton M, Osio D, Kanani F, Baptista J, Suri M
Eur J Med Genet 2022 Oct;65(10):104572. Epub 2022 Jul 31 doi: 10.1016/j.ejmg.2022.104572. PMID: 35918038
Kivelä T, Kauniskangas L, Miettinen P, Tarkkanen A
Ophthalmology 1989 Dec;96(12):1799-808. doi: 10.1016/s0161-6420(89)32652-2. PMID: 2622623
Baumann J, Insler MS
Ann Ophthalmol 1985 Dec;17(12):766-7. PMID: 3911850

Therapy

Cui L, Xiao Y, Xiang Z, Chen Z, Yang C, Zou H
BMC Ophthalmol 2024 Feb 2;24(1):52. doi: 10.1186/s12886-024-03322-y. PMID: 38308203Free PMC Article
Arnalich-Montiel F, Pérez-Sarriegui A, Lauzirika G, Porrua L, Hernández-Verdejo JL
Cornea 2017 Mar;36(3):290-294. doi: 10.1097/ICO.0000000000001141. PMID: 28129299
Mindel JS
Am J Ophthalmol 1981 Mar;91(3):373-80. doi: 10.1016/0002-9394(81)90292-0. PMID: 7211995
Davies PD, Ruben M
Br J Ophthalmol 1975 Apr;59(4):223-8. doi: 10.1136/bjo.59.4.223. PMID: 1095050Free PMC Article

Prognosis

Arnalich-Montiel F, Pérez-Sarriegui A, Lauzirika G, Porrua L, Hernández-Verdejo JL
Cornea 2017 Mar;36(3):290-294. doi: 10.1097/ICO.0000000000001141. PMID: 28129299
Buys Y, Buncic JR, Enzenauer RW, Mednick E, O'Keefe M
Can J Ophthalmol 1993 Apr;28(2):72-5. PMID: 8508341

Clinical prediction guides

Asano N, Schlötzer-Schrehardt U, Naumann GO
Ophthalmology 1995 Sep;102(9):1279-90. PMID: 9097764
Cameron JD, Fine BS, Shapiro I
Ophthalmology 1987 Feb;94(2):187-96. doi: 10.1016/s0161-6420(87)33479-7. PMID: 3574884
Ishikawa S, Bensaoula T, Uga S, Mukuno K
Ophthalmologica 1985;191(3):172-83. doi: 10.1159/000309582. PMID: 4080318

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