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Ptosis, hereditary congenital 2(PTOS2)

MedGen UID:
337515
•Concept ID:
C1846128
•
Disease or Syndrome
Synonyms: PTOS2; PTOSIS, X-LINKED
 
Monarch Initiative: MONDO:0010280
OMIM®: 300245

Clinical features

From HPO
Ptosis
MedGen UID:
2287
•Concept ID:
C0005745
•
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
See: Feature record | Search on this feature
Compensatory chin elevation
MedGen UID:
337682
•Concept ID:
C1846911
•
Finding
A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm.
Sener EC, Taylan Sekeroglu H, Ural O, Oztürk BT, Sanaç AS
Ophthalmic Genet 2014 Dec;35(4):208-25. Epub 2014 Oct 27 doi: 10.3109/13816810.2014.973044. PMID: 25347047
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC
Ophthalmology 2014 Jul;121(7):1461-8. Epub 2014 Mar 6 doi: 10.1016/j.ophtha.2014.01.006. PMID: 24612975Free PMC Article
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC
JAMA Ophthalmol 2013 Dec;131(12):1532-40. doi: 10.1001/jamaophthalmol.2013.4392. PMID: 24091937Free PMC Article
Ptosis: causes, presentation, and management.
Finsterer J
Aesthetic Plast Surg 2003 May-Jun;27(3):193-204. Epub 2003 Aug 21 doi: 10.1007/s00266-003-0127-5. PMID: 12925861
Clinical and Molecular genetics of Stickler syndrome.
Snead MP, Yates JR
J Med Genet 1999 May;36(5):353-9. PMID: 10353778Free PMC Article

Diagnosis

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W
BMC Med Genomics 2023 Sep 25;16(1):223. doi: 10.1186/s12920-023-01665-x. PMID: 37749571Free PMC Article
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC
Ophthalmology 2014 Jul;121(7):1461-8. Epub 2014 Mar 6 doi: 10.1016/j.ophtha.2014.01.006. PMID: 24612975Free PMC Article
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC
JAMA Ophthalmol 2013 Dec;131(12):1532-40. doi: 10.1001/jamaophthalmol.2013.4392. PMID: 24091937Free PMC Article
Genetic diseases affecting the eyelids: what should a clinician know?
Allen RC
Curr Opin Ophthalmol 2013 Sep;24(5):463-77. doi: 10.1097/ICU.0b013e3283638219. PMID: 23846188
Ptosis: causes, presentation, and management.
Finsterer J
Aesthetic Plast Surg 2003 May-Jun;27(3):193-204. Epub 2003 Aug 21 doi: 10.1007/s00266-003-0127-5. PMID: 12925861

Prognosis

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W
BMC Med Genomics 2023 Sep 25;16(1):223. doi: 10.1186/s12920-023-01665-x. PMID: 37749571Free PMC Article
Management of a case of divergent strabismus fixus secondary to a congenital fibrosis of extraocular muscles type 2.
Matalia JH, Panmand P, Ghalla P
Indian J Ophthalmol 2017 Oct;65(10):1061-1063. doi: 10.4103/ijo.IJO_377_17. PMID: 29044091Free PMC Article
Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.
Luk HM, Lo IF, Lai CW, Ma LC, Tong TM, Chan DH, Lam ST
Hong Kong Med J 2013 Apr;19(2):182-5. PMID: 23535681

Clinical prediction guides

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W
BMC Med Genomics 2023 Sep 25;16(1):223. doi: 10.1186/s12920-023-01665-x. PMID: 37749571Free PMC Article
Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene.
Xue XM, Liu YQ, Pang P, Sun CF
J Oral Maxillofac Surg 2018 Dec;76(12):2582.e1-2582.e9. Epub 2018 Jul 7 doi: 10.1016/j.joms.2018.06.170. PMID: 30075136
Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2.
Khan AO, Almutlaq M, Oystreck DT, Engle EC, Abu-Amero K, Bosley T
Ophthalmic Genet 2016 Jun;37(2):130-6. Epub 2014 Jun 18 doi: 10.3109/13816810.2014.926942. PMID: 24940936Free PMC Article
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC
Ophthalmology 2014 Jul;121(7):1461-8. Epub 2014 Mar 6 doi: 10.1016/j.ophtha.2014.01.006. PMID: 24612975Free PMC Article
Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family.
Nakashima M, Nakano M, Hirano A, Kishino T, Kondoh S, Miwa N, Niikawa N, Yoshiura KI
J Hum Genet 2008;53(1):34-41. Epub 2007 Nov 7 doi: 10.1007/s10038-007-0214-6. PMID: 17987257

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