COECSA, Journal, Ophthalmology
From strabismus to pseudo-strabismus and familial exudative vitreoretinopathy, a clinical journey of phenotypically identic twins with symmetric ocular features
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Keywords

strabismus

How to Cite

Pathan AH, Niyonzima JC, Sazzad Iftekhar QS. (2023). From strabismus to pseudo-strabismus and familial exudative vitreoretinopathy, a clinical journey of phenotypically identic twins with symmetric ocular features. The Journal of Ophthalmology of Eastern, Central and Southern Africa, 15(01). Retrieved from https://joecsa.coecsa.org/index.php/joecsa/article/view/311

Abstract

Familial Exudative Vitreoretinopathy (FEVR) is a rare genetic condition and several genes have been identified.
Clinically, it can cause macular dragging and therefore pseudo-strabismus or exudative or tractional retinal
detachment leading to loss of vision in severe cases. Other symptoms including refractive error, cataract and
glaucoma have been documented. The main differential diagnosis remains retinopathy of prematurity. We
report two phenotypically identic twins that were seen in a lower level hospital and diagnosed with strabismus
presumed to be secondary to myopia. A multidisciplinary team including optometrist, paediatric and vitreoretinal
ophthalmologists re-examined the twins and found eccentric fixation and features of FEVR on fundoscopy
and angiography. There was a high chance that the twins would have been managed only with spectacles
missing the opportunity to be followed up for a more severe vitreoretinal proliferative disease. This case report
underlines the genetic basis of the disease with symmetrical and equally distributed myopia, macular dragging
and subsequent pseudo-strabismus and FEVR angiographic features. A multidisciplinary team-work was of
utmost importance. Beside refractive error correction, the twins also benefited from laser photocoagulation to
the avascular retinae to prevent further progress of the proliferative vitreoretinopathy. A good clinical history is
enough to rule out retinopathy of prematurity and focus on other causes of retinal fibrovascular membranes in
the pediatric population. The fluorescein angiography can be decisive in the clinical setting while genotyping is
essential for genetic counseling. Clinicians in low income countries may depend solely on a good clinical history
and examination but a high index of suspicion in presence of clinical features of FEVR is key.

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References

Gilmour DF. Familial exudative vitreoretinopathy

and related retinopathies. Eye. 2015;29:1–14.

doi:10.1038/eye.2014.70.

Yonekawa Y, Thomas BJ, Drenser KA, et al. Familial

exudative vitreoretinopathy spectral-domain optical

coherence tomography of the vitreoretinal interface,

retina, and choroid. Ophthalmology. 2015;122:2270–

doi:10.1016/j.ophtha.2015.07.024.

Dawson DG. Persistent fetal vasculature. Arch

Ophthalmol. 2003;121:1340. doi:10.1001/

archopht.121.9.1340.

Ghorbanian S, Jaulim A, Chatziralli IP. Diagnosis

and treatment of coats’ disease: A review of the

literature. Ophthalmologica. 2012;227:175–182.

doi:10.1159/000336906.

Holmström G, Thorén K. Ocular manifestations

of incontinentia pigmenti. Acta Ophthalmol

Scand. 2000;78:348–353. doi:10.1034/j.1600-

2000.078003348.x.

Levasseur R. Treatment and management of

osteoporosis-pseudoglioma syndrome. Expert Rev

Endocrinol Metab. 2008;3:337+. doi:http://dx.doi.

org.ezproxy.is.ed.ac.uk/10.1586/17446651.3.3.337.

Sızmaz S, Yonekawa Y, Trese MT. Familial

exudative vitreoretinopathy. Turk Oftalmoloiji Derg.

;45:164–168. doi:10.4274/tjo.67699.

Ranchod TM, Ho LY, Drenser KA, et al. Clinical

presentation of familial exudative vitreoretinopathy.

Ophthalmology. 2011;118:2070–75. doi:10.1016/j.

ophtha.2011.06.020.

Nikopoulos K, Venselaar H, Collin RWJ, et al.

Overview of the mutation spectrum in familial

exudative vitreoretinopathy and Norrie disease

with identification of 21 novel variants in FZD4,

LRP5, and NDP. Hum Mutat. 2010;31:656–666.

doi:10.1002/humu.21250.

Nienke Boonstra F, Erik van Nouhuys C, Schuil J,

et al. Clinical and molecular evaluation of probands

and family members with familial exudative

vitreoretinopathy. Investig Ophthalmol Vis Sci.

;50:4379–85. doi:10.1167/iovs.08-3320.

Robitaille JM, Zheng B, Wallace K, et al. The

role of Frizzled-4 mutations in familial exudative

vitreoretinopathy and Coats disease. Br J Ophthalmol.

;95:574–579. doi:10.1136/bjo.2010.190116.

Seo SH, Kim MJ, Park SW, et al. Large deletions of

TSPAN12 cause familial exudative vitreoretinopathy

(FEVR). Investig Ophthalmol Vis Sci 2016;57:6902–

doi:10.1167/iovs.16-20585

Natung T, Venkatesh P, Thangkhiew L, et al.

Asymmetric presentations of familial exudative

vitreoretinopathy. Oman J Ophthalmol 2013;6:129.

doi:10.4103/0974-620x.116661.

Ziylan Ş, Öztürk V, Yabaş-Kızıloğlu Ö, et al.

Myopia, visual acuity and strabismus in the long term

following treatment of retinopathy of prematurity.

Turk J Pediatr. 2014;56:518–523.

Sardiwalla Z, Ebrahim H, Sukati VN. Familial

Exudative Vitreoretinopathy (FEVR). African Vis Eye

Heal 2016;71:95–99. doi:10.4102/aveh.v71i2.72.

Maden G. Unilateral familial exudative

vitreoretinopathy. Biomed J Sci Tech Res. 2018;8:6398–

doi:10.26717/bjstr.2018.08.001624.

Scheiman M, Gallaway M, Mckewicz L. Heterotopia

of the Macula (Ectopic Macula). Optom Vis

Sci. 1986;63:567–570. doi:10.1097/00006324-

-00011.

Sanfilippo PG, Hewitt AW, Hammond CJ,

et al. The heritability of ocular traits. Surv

Ophthalmol. 2010;55:561–583. doi:10.1016/j.

survophthal.2010.07.003.

Tedja MS, Haarman AEG, Meester-Smoor MA, et al.

IMI – Myopia genetics report. Investig Ophthalmol

Vis Sci. 2019;60:M89–105. doi:10.1167/iovs.18-

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