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 Table of Contents  
CASE REPORT
Year : 2020  |  Volume : 58  |  Issue : 3  |  Page : 203-205

A rare case of stickler marshall syndrome


Cataract, Cornea, External Disease and Refractive Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Puducherry, India

Date of Submission24-Mar-2020
Date of Decision21-Apr-2020
Date of Acceptance01-May-2020
Date of Web Publication14-Sep-2020

Correspondence Address:
Dr. Kirandeep Kaur
Fellow Pediatric Ophthalmology and Squint Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Puducherry - 605 007
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjosr.tjosr_29_20

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  Abstract 


A 35 year old female presented to us with sudden painless diminution of vision in the right eye (RE) since 10 days. There was no history of trauma. She gave systemic history of hearing loss since 4 years of age and also complained of joint pains on and off for which she was taking medical treatment. Best corrected visual acuity in the RE was Hand movements (HM+) and in the left eye (LE) was 20/20 with -5D spherical correction. Anterior segment examination in the RE revealed horizontal jerky nystagmus, typical complete inferonasal iris coloboma with aphakia in primary gaze(Figure 1). On examining the eye in downgaze on slit lamp, heterogenous lenticular opacity could be seen in the anterior vitreous phase suggestive of spontaneously dislocated crystalline lens in the vitreous cavity(Figure 2). LE anterior segments was within normal limits. Fundoscopy of the RE revealed Type 4 Retinochoroidal(RC) coloboma (Ida Mann's classification) with posterior vitreous detachment (PVD) and LE fundus was normal. Ultrasound B scan of the RE revealed dislocated crystalline lens in the vitreous cavity with PVD and RC coloboma thus confirming the findings(Figure 3,4,5). The patient was planned for pars plana vitrectomy with lensectomy in the RE.

Keywords: Cataract, midface hypoplasia, retino choroidal coloboma


How to cite this article:
Gurnani B, Kaur K. A rare case of stickler marshall syndrome. TNOA J Ophthalmic Sci Res 2020;58:203-5

How to cite this URL:
Gurnani B, Kaur K. A rare case of stickler marshall syndrome. TNOA J Ophthalmic Sci Res [serial online] 2020 [cited 2020 Sep 24];58:203-5. Available from: http://www.tnoajosr.com/text.asp?2020/58/3/203/294983




  Case Report Top


A 35-year-old female presented to us with sudden painless diminution of vision in the right eye (RE) for the past 10 days. There was no history of trauma. She gave a systemic history of hearing loss since 4 years of age and also complained of joint pains on and off, for which she was taking medical treatment. Best-corrected visual acuity in the RE was hand movements and in the left eye (LE) was 20/20 with − 5D spherical correction. Anterior-segment examination in the RE revealed horizontal jerky nystagmus, typical complete inferonasal iris coloboma, keyhole pupil with aphakia in the primary gaze [Figure 1]. On examining the eye in down gaze on slit lamp, heterogeneous lenticular opacity could be seen in the anterior vitreous phase, suggestive of spontaneously dislocated crystalline lens in the vitreous cavity [Figure 2]. LE anterior-segment examination was within normal limits. Fundoscopy of the RE revealed Type 4 retinochoroidal (RC) coloboma (Ida Mann classification) with posterior vitreous detachment (PVD) while LE fundus was normal. Ultrasound B scan of the RE revealed dislocated crystalline lens in the vitreous cavity with PVD and RC coloboma, thus confirming the findings [Figure 3], [Figure 4], [Figure 5]. The patient was referred to the retina clinic for plan for pars plana vitrectomy with lensectomy in the RE.
Figure 1: Image of the right eye of the patient depicting typical complete inferonasal iris coloboma and aphakia in the primary gaze

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Figure 2: Image of the right eye of the patient in downgaze depicting posteriorly dislocated crystalline lens in the vitreous cavity

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Figure 3: B scan image of the same eye of the patient depicting excavation at the level of retina and choroid, suggestive of retinochoroidal coloboma

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Figure 4: B scan image of the right eye depicting hyperechoic shadow in the posterior vitreous cavity, suggestive of dislocated crystalline lens

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Figure 5: B scan image of the right eye depicting hyperechoic membranous echos in the mid and posterior vitreous cavity, suggestive of posterior vitreous detachment

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General examination revealed distinctive flattened facial appearance, underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose, flattened nose, and small lower jaw (micrognathia) [Figure 6]. There was bilateral sensorineural hearing loss and arthritis of both the knees.
Figure 6: Gross image of the patient depicting distinctive flattened facial appearance, underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose, flattened nose, and small lower jaw (micrognathia)

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  Discussion Top


Stickler  Marshall syndrome More Details is a hereditary ophthalmoarthropathy. Gunnar Stickler first described this syndromic entity in 1965.[1] Based on the genetic profile and chromosomal analysis, it comprises five different clinical subgroups: Type 1 (COL2A1), Type 2 (COL11A1), Type 3 (COL11A2), Type 4 (COL9A1, COL9A2), and Type 5 – ocular only (COL2A1).[2],[3] The majority of cases which present to an ophthalmology clinic will be either Type 1 or Type 2 Stickler syndrome. The inheritance pattern is usually autosomal dominant,[4] with majority being myopic.[5] The phenotypic expression of Stickler Marshall syndrome is classified in four distinct areas: ocular, orofacial, auditory, and musculoskeletal. The association with congenital cataract is very well recognized.[6]

Patients with Stickler Marshall syndrome may have congenital abnormalities of the anterior-chamber drainage angle,[7] which predisposes them to a higher risk of glaucoma; clefting abnormalities of the hard or soft palate;[5] high risk of developing retinal detachment secondary to PVD or giant retinal tear.[8] Hearing loss in Stickler syndrome occurs due to  Eustachian tube More Details malfunction and middle ear impairment. Approximately 80% of children and adults with Stickler syndrome report musculoskeletal symptoms, which have a considerable impact on their quality of life,[9] and spinal abnormalities (flattened vertebrae, end-plate changes, scoliosis, and/or kyphosis, only rarely requiring surgery) with around 85% of adults suffering from chronic back pain. Some children have bony joint enlargement due to epiphyseal dysplasia.[10] Genetic analysis forms an important part of management, although this was a limiting factor in our patient, as the patient could not afford genetic analysis testing. Management is mostly symptomatic based on the clinical profile of the patient, which includes correction of myopia, cataract surgery, and close follow-up to prevent retinal complications.


  Conclusion Top


A high index of clinical suspicion and thorough background knowledge is needed to diagnose these rare syndromic cases. We should suspect this syndrome in children with Pierre–Robin/cleft and myopia, those with spondyloepiphyseal dysplasia associated with myopia or deafness, patients with a family history of retinal detachment, and sporadic cases of retinal detachment associated with midline cleft, deafness, or joint hypermobility. Majority of these cases are prone to rhegmatogenous retinal detachment and spontaneous posterior dislocation of the crystalline lens; hence, detailed clinical evaluation, meticulous management, and prompt follow-up are necessary in these cases. This will help prevent disastrous complications and ultimately achieve an excellent visual outcome.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 1965;40:433-55.  Back to cited text no. 1
    
2.
Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, et al. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet 1996;5:1339-43.  Back to cited text no. 2
    
3.
Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J Pediatr 1998;132:368-71.  Back to cited text no. 3
    
4.
Richards AJ, Martin S, Yates JR, Scott JD, Baguley DM, Pope FM, et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br J Ophthalmol 2000;84:364-71.  Back to cited text no. 4
    
5.
Poulson AV, Hooymans JM, Richards AJ, Bearcroft P, Murthy R, Baguley DM, et al. Clinical features of type 2 Stickler syndrome. J Med Genet 2004;41:e107.  Back to cited text no. 5
    
6.
Scott JD. Duke-Elder lecture. Prevention and perspective in retinal detachment. Eye (Lond) 1989;3(Pt5):491-515.  Back to cited text no. 6
    
7.
Spallone A. Stickler's syndrome: a study of 12 families. Br J Ophthalmol 1987;71:504-9.  Back to cited text no. 7
    
8.
Ang A, Poulson AV, Goodburn SF, Richards AJ, Scott JD, Snead MP. Retinal detachment and prophylaxis in type 1 Stickler syndrome. Ophthalmology 2008;115:164-8.  Back to cited text no. 8
    
9.
Stickler GB, Hughes W, Houchin P. Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey. Genet Med 2001;3:192-6.  Back to cited text no. 9
    
10.
Rose PS, Ahn NU, Levy HP, Ahn UM, Davis J, Liberfarb RM, et al. Thoracolumbar spinal abnormalities in Stickler syndrome. Spine (Phila Pa 1976) 2001;26:403-9.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]



 

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