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CASE REPORT
Year : 2019  |  Volume : 11  |  Issue : 2  |  Page : 59-61

A rare case of unilateral morning glory disc anomaly in a patient with turner syndrome


University Hospital Center Mohammed VI, Oujda, Morocco

Date of Submission14-Aug-2019
Date of Decision06-Oct-2019
Date of Acceptance30-Jan-2020
Date of Web Publication09-Mar-2020

Correspondence Address:
Abdi Rhizlane
CHU MED VI, Oujda
Morocco
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DOI: 10.4103/sjopthal.sjopthal_23_19

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  Abstract 


Turner syndrome (TS) is caused by haploinsufficiency or structural anomaly of the X-chromosome in females. The chromosomal anomaly may affect all cells or some of them, as a form of mosaicism. The most common eye disorders detected in this syndrome include strabismus, ptosis, epicanthal folds, red–green color deficiency, nystagmus, keratoconus, anterior chamber dysgenesis, or bilateral eyelid edema related to lymphatic circulation disorders. Patients with TS may also experience the formation of drusen at the fundus of the eye, vascular lesions, or retinal detachment. We report the case of a girl with unilateral morning glory disc anomaly who had karyotype consistent with TS mosaicism.

Keywords: Morning glory, ophthalmologic sign, turner syndrome


How to cite this article:
Rhizlane A, Chariba S, Asmae M, Rachid S. A rare case of unilateral morning glory disc anomaly in a patient with turner syndrome. Sudanese J Ophthalmol 2019;11:59-61

How to cite this URL:
Rhizlane A, Chariba S, Asmae M, Rachid S. A rare case of unilateral morning glory disc anomaly in a patient with turner syndrome. Sudanese J Ophthalmol [serial online] 2019 [cited 2020 Jul 12];11:59-61. Available from: http://www.sjopthal.net/text.asp?2019/11/2/59/280244




  Introduction Top


Turner syndrome (TS) is caused by a haploinsufficiency or structural anomaly of the X-chromosome in females. The chromosomal anomaly may affect all cells or some of them, as a form of mosaicism. The incidence of TS is 1 in 2500 live female births. Although short stature and gonadal dysgenesis belong to the most common clinical features of TS, eye disorders are also observed.

A diverse range of eye disorders has been detected in patients with TS. The most common eye disorders include strabismus, ptosis, occurrence of epicanthal folds, red–green color deficiency, nystagmus, keratoconus, anterior chamber dysgenesis, or bilateral eyelid edema related to lymphatic circulation disorders.

Patients with TS may also experience the formation of drusen at the fundus of the eye, vascular lesions, or retinal detachment.

We report the case of a girl with unilateral morning glory disc anomaly who had karyotype consistent with TS mosaicism.


  Case Report Top


This is a known case of 18-year-old patient who presented for a consultation for reduced visual acuity in the right eye.

The ophthalmological examination examines visual acuity limited to the finger count. The anterior segment was unremarkable. The optic nerve in the right eye was large in appearance with central excavation and extensive peripapillary pigmentation; some straightening of the retinal vessels arising from the disc margin was present [Figure 1].
Figure 1: Fundus showing the optic nerve in the right eye: Large in appearance with extensive peripapillary pigmentation; some straightening of the retinal vessels arising from the disc margin

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The examination of the left eye objective a visual acuity at 10/10 and normal optic papilla [Figure 2].
Figure 2: Fundus showing normal optic disc in the left eye

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The interrogation and general examination reveal the absence of menstruations and absence of puberty signs.

The patient was referred in endocrinology for ecological assessment where she benefited from a karyotype revealing a TS and bone densitometry revealing an osteoporosis [Figure 3].
Figure 3: Bone densitometry reveals an osteoporosis

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  Discussion Top


TS is a condition in which there is an absence or structural abnormality of one X chromosome in phenotypic females.

The cardinal signs of TS include short stature, left-sided congenital heart defects, and ovarian dysgenesis. The incidence of the syndrome is estimated to be 1 in 3000 live births.[1]

The common ocular signs in TS include strabismus, ptosis, hypertelorism, epicanthus, and red–green color deficiency.[2] Ocular hypertension and glaucoma have also been reported in patients with TS.[3]

Lloyd et al. reported anterior segment dysgenesis in the form of iris hypoplasia, trabeculodysgenesis, and Reiger's anomaly (iridocorneal dysgenesis) in patients with mosaic TS.[4]

Morning glory syndrome, a rare congenital malformation of the optic nerve, is characterized by an enlarged, funnel-shaped excavation in the optic disc, with peripapillary chorioretinal pigmentary changes and overlying central white glial tuft. The vessels are radially oriented, resembling the petals of the morning glory flower, making it challenging to distinguish the arteriolar and venous circulations.[5]

To our knowledge, this case represents the second report of TS associated with morning glory disc anomaly after a case presented by Sahni et al.[6]

Cooccurring TS and posterior segment abnormalities involving the retina and optic nerve have been rarely reported. Further investigation can help determine if the chromosomal abnormality may be responsible for these rare cooccurrences.

This case provides incentive to further investigate the chromosomal disease associations with this rare disc anomaly and highlights the importance of considering the possibility of posterior ocular segment abnormalities in patients with TS.


  Conclusion Top


The association of TS in morning syndrome is very exceptional.

We consider recent progress that enables the ophthalmologist to progress from the simple recognition of a phenotype to the correlation of genotypic variations with embryogenesis and consequent features of that phenotype.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand 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.
Jacobs PA, Browne C, Gregson N, Joyce C, White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 1992;29:103-8.  Back to cited text no. 1
    
2.
Masters MC. Eyes and the turner syndrome: A nationwide survey. Br Orthopt J 1990;46:7-17.  Back to cited text no. 2
    
3.
Schachat AP, Maumenee IH. Bardet-Biedel syndrome and related disorders. Arch Ophthalmol 1982;100:285-8.  Back to cited text no. 3
    
4.
Lloyd IC, Haigh PM, Clayton-Smith J, Clayton P, Price DA, Ridgway AE, et al. Anterior segment dysgenesis in mosaic Turner syndrome. Br J Ophthalmol 1997;81:639-43.  Back to cited text no. 4
    
5.
Brodsky MC. Congenital Optic Disc Anomalies in Pediatric Neuro-ophthalmology. 2nd ed. New York: Springer; 2010.  Back to cited text no. 5
    
6.
Sahni DR, Wallace M, Kanhere M, Al Saif H, Couser N. A rare case of unilateral morning glory disc anomaly in a patient with turner syndrome: Report and review of posterior segment associations. Case Rep Ophthalmol Med 2018;2018:5969157. doi:10.1155/2018/5969157.eCollection2018.  Back to cited text no. 6
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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