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OPHTHALMIC IMAGE
Year : 2021  |  Volume : 1  |  Issue : 3  |  Page : 444

Ocular findings associated with arthrogryposis multiplex congenita


Department of Paediatric Ophthalmology and Strabismus Clinic, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India

Date of Web Publication02-Jul-2021

Correspondence Address:
Dr. Elizabeth Sasikala Anilkumar
Paediatric Ophthalmology and Strabismus Clinic, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Avinashi Road, Coimbatore, Tamil Nadu - 641 014
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_192_21

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How to cite this article:
Anilkumar ES, Narendran K. Ocular findings associated with arthrogryposis multiplex congenita. Indian J Ophthalmol Case Rep 2021;1:444

How to cite this URL:
Anilkumar ES, Narendran K. Ocular findings associated with arthrogryposis multiplex congenita. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Jul 26];1:444. Available from: https://www.ijoreports.in/text.asp?2021/1/3/444/319985



Arthrogryposis multiplex congenita (AMC) is a birth defect characterized by multiple joint deformities.[1] Ocular abnormalities reported in conjunction with this syndrome are congenital ophthalmoplegia,[2],[3] progressive bilateral paralysis of lateral recti,[1] progression of ocular motility disorder,[3] delayed maturation of fixation, microphthalmia, hypertelorism, lid abnormalities, optic atrophy,[1] juvenile-onset glaucoma,[2] Mobius syndrome and Duane's syndrome.[1] AMC with ocular manifestation of bilateral Peter's anomaly has been infrequently reported.[4],[5] We describe the systemic manifestations and ocular features such as bilateral ptosis, inferior corneal scar with peripheral anterior synechae (PAS) suggestive of bilateral Peter's anomaly in association with AMC in an 8-year-old boy [Figure 1]a, [Figure 1], [Figure 1]c, [Figure 1]d, [Figure 1]e, [Figure 1]f.
Figure 1: (a) Clinical photograph showing bilateral inferior corneal opacity & PAS. (b) Clinical photograph showing bilateral partial ptosis (MRD1 + 1 mm) with orthophoria. (c) Clinical photograph describing systemic features of AMC such as bilateral low set ears, webs (pterygium of the neck), poorly defined conchae of ear, winged scapula, and C-type scoliosis –right-sided curved thoracic vertebrae. (d) & (e) RE and LE- Slit-lamp photograph demonstrating PAS indicated by white arrowheads. (f) Clinical photograph showing scar over the knee and ankle joint due to soft tissue release with generalized muscle atrophy

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  References Top

1.
Sharma R, Sharma P, Raina J. Ophthalmological and systemic findings associated with arthrogryposis multiplex congenita. Internet J Trop Med 2006;3.  Back to cited text no. 1
    
2.
Zeiter JH, Boniuk M. Ophthalmologic findings associated with arthrogryposis multiplex congenita: Case report and review of the literature. J Pediatr Ophthalmol Strabismus 1989;26:204-8.  Back to cited text no. 2
    
3.
Puri P, Gupta M, Chan J. Progressive ophthalmoplegia in arthrogryposis multiplex congenita. Eye (Lond) 2002;16:86-8.  Back to cited text no. 3
    
4.
Kinning E, Barrow M. Arthrogryposis in association with Peters' anomaly. Clin Dysmorphol 2008;17:177-9.  Back to cited text no. 4
    
5.
Alward WL, Krachmer JH, Macsai MS. Arthrogryposis multiplex congenita with Peter's anomaly. J Pediatr Ophthalmol Strabismus 1990;27:329.  Back to cited text no. 5
    


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