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PHOTO ESSAY
Year : 2023  |  Volume : 3  |  Issue : 1  |  Page : 200-201

Unilateral congenital ectropion uveae with cleft lip and cleft palate


1 Department of Ophthalmology, All India Institute of Medical Sciences, Patna, Bihar, India
2 Department of Ophthalmology, All India Institute of Medical Sciences, Deoghar, Jharkhand, India

Date of Submission05-Aug-2022
Date of Acceptance27-Oct-2022
Date of Web Publication20-Jan-2023

Correspondence Address:
Rashmi Kumari
All India Institute of Medical Sciences, Deoghar, Jharkhand
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_1936_22

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  Abstract 


Keywords: Ectropion uveae, congenital, cleft lip, cleft palate, neural crest defect ,glaucoma


How to cite this article:
Saha BC, Biswas S, Kumari R. Unilateral congenital ectropion uveae with cleft lip and cleft palate. Indian J Ophthalmol Case Rep 2023;3:200-1

How to cite this URL:
Saha BC, Biswas S, Kumari R. Unilateral congenital ectropion uveae with cleft lip and cleft palate. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Feb 1];3:200-1. Available from: https://www.ijoreports.in/text.asp?2023/3/1/200/368194



A 15-year-old male presented with complaints of progressive diminution of vision in the left eye and headache for the last one year. Uncorrected visual acuity in both eyes (OU) were 6/6 and 6/24, respectively, with mild ptosis (2 mm) of the left upper eyelid [Figure 1]a. Slit-lamp examination showed a deep anterior chamber, smooth iris without crypts, a slightly eccentric pupil shifting nasally with 360° ectropion uveae round the pupillary margin in OS [Figure 1]b.
Figure 1: (a) Mild ptosis in the OS denoted by white arrow (b) circumferential ectropion uveae round the pupillary margin in the OS

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Gonioscopy of the left eye revealed high iris insertion in all quadrants without any synechiae [Figure 2]a while the angles in the right eye were open with normal level of iris insertion. Optic disc evaluation of the left eye (OS) showed a vertical cup/disc ratio of 0.8:1 with superior and inferior neuroretinal rim (NRR) thinning [Figure 2]b; the disc was absolutely normal in the right eye (OD). Retinal nerve fiber layer (RNFL) analysis by Heidelberg Engineering's SPECTRALIS optical coherence tomography (OCT) detected significant thinning in the superior and inferior quadrants of the left eye corresponding with the bi-arcuate scotoma of visual field analysis.
Figure 2: (a) Gonioscopy revealing high iris insertion in OS (b) Disc finding of OS with cup/disc ratio 0.8:1 and thinning of superior and inferior retinal nerve fiber layer

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There was mild left-sided facial hemihypertrophy with signs of previous surgery for cleft lip and cleft palate at the age of four months [Figure 3]a and [Figure 3]b.
Figure 3: (a) Scar of cleft lip repair in the left half; (b) scar of cleft palate repair denoted by black arrow

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Intraocular pressure (IOP) measured by Goldmann applanation tonometry was 15 mmHg and 34 mm Hg in OD and OS, respectively.The patient was already under treatment with bimatoprost 0.01% and pilocarpine 1% in OS for the last one year.

Owing to the advanced stage and refractory nature of glaucoma associated with congenital ectropion uveae (CEU), the patient was advised for surgical management. With proper informed and written consent, trabeculectomy with mitomycin C (0.2 mg/ml) was performed under guarded visual prognosis. The patient was followed monthly for IOP measurement and tri-monthly for visual field analysis. An IOP of 10 mmHg was maintained till his last visit; that is, nine months postoperatively without any further loss of visual field.


  Discussion Top


Congenital ectropion uveae (CEU), a rare clinical entity, is usually associated with systemic findings like neurofibromatosis type 1 (NF1), Rieger's anomaly, intestinal neuronal dysplasia, and Prader–Willi syndrome.[1],[2] Ocular associations like ptosis, lid coloboma, and telecanthus along with secondary glaucoma are well reported.[3],[4],[5] Association of CEU with craniofacial defects like cleft lip and cleft palate, as in our case, has not been reported till date. Our patient was operated for craniofacial abnormalities as early as four months of age but was not referred to an ophthalmologist probably due to the lack of information of any such association. Glaucoma was diagnosed at a later stage when changes like ptosis and proptosis became apparent, but by that time the optic neuropathy had already advanced.

In conclusion, though a rare syndrome, potential blindness in the association of progressive glaucoma with CEU makes it a formidable opponent that each ophthalmologist should be well acquainted with. Other specialties like pediatricians and maxillofacial surgeons dealing with children with syndromes should also be made aware of such associations so as to facilitate timely referral. The irreversible nature of the disease in particular makes it all the more important, and all cases of ectropion uveae should be periodically evaluated for glaucomatous changes.

Disclaimer

Consent to publish the case report was obtained from the patient's guardian in writing. The report contains no personal information that can in any way disclose the identity of the patient.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Dowling JL Jr, Albert DM. Nelson LB, Walton DS. Primary glaucoma associated with iridotrabecular dysgenesis and ectropion uvea. Ophthalmology 1985;92:912-21.  Back to cited text no. 1
    
2.
Wilson ME. Congenital iris ectropion and a new classification for anterior segment dysgenesis. J Pediatr Ophthalmol Strabismus 1990;27:48-55.  Back to cited text no. 2
    
3.
Edward DP, Morales J, Bouhenni RA, Patil J, Edward PR, Cummings TJ, et al. Congenital ectropion uveae and mechanisms of glaucoma in neurofibromatosis type 1: New insights. Ophthalmology 2012;119:1485-94.  Back to cited text no. 3
    
4.
Cordero DR, Brugmann S, Chu Y, Bajpai R, Jame M, Helms JA. Cranial neural crest cells on the move: Their roles in craniofacial development. Am J Med Genet A 2011;155A: 270-9.  Back to cited text no. 4
    
5.
Singh K, Bhattacharyya M, Gotmare N, Joon A, Aggarwal H, Singh A. Congenital ectropion uveae (CEU) with refractory glaucoma: Early trabeculectomy saves vision. Eur J Ophthalmol 2021;31:NP112-5.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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