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 Table of Contents  
Year : 2021  |  Volume : 1  |  Issue : 3  |  Page : 517-519

Bilateral buphthalmos associated with neonatal-onset ectropion uveae, microspherophakia and pigment dispersion

Departments of Glaucoma and 1Anaesthesia, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India

Date of Submission26-Dec-2020
Date of Acceptance15-Feb-2021
Date of Web Publication02-Jul-2021

Correspondence Address:
Dr. Vijayalakshmi A Senthilkumar
Department of Glaucoma, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai . - 625 020, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_3739_20

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Childhood glaucoma is a potentially blinding disease and poses crucial challenges in both diagnosis and management. We report a rare case of secondary glaucoma associated with nonacquired ocular anomalies in a 3-month infant with a family history of pigmentary glaucoma (PG) in two generations presenting as bilateral buphthalmos associated with ectropion uveae, microspherophakia, and high myopia. The child was successfully managed by combined trabeculotomy and MMC-augmented trabeculectomy with stabilized IOP at 12 months follow-up.

Keywords: Buphthalmos, high myopia, microspherosphakia, Neonatal-onset ectropion uveae

How to cite this article:
Senthilkumar VA, Krishnadas R, Ravichandar A. Bilateral buphthalmos associated with neonatal-onset ectropion uveae, microspherophakia and pigment dispersion. Indian J Ophthalmol Case Rep 2021;1:517-9

How to cite this URL:
Senthilkumar VA, Krishnadas R, Ravichandar A. Bilateral buphthalmos associated with neonatal-onset ectropion uveae, microspherophakia and pigment dispersion. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Jul 28];1:517-9. Available from: https://www.ijoreports.in/text.asp?2021/1/3/517/320086

Congenital ectropion uveae (CEU) is a rare, nonprogressive condition characterized by the presence of posterior pigment epithelium of iris on the anterior surface of the iris.[1] Reported patients were mostly in the second decade, with juvenile open-angle glaucoma (JOAG) and there are only two reports of CEU in infancy.[1],[2] Neonatal onset ectropion uveae (N-CEU) is a distinct entity, which is clinically different from the late onset classical CEU.[3] Buphthalmos associated with N-CEU and anterior segment anomalies should alert the treating clinician regarding the severity of the disease course warranting multiple surgical intervention and poor visual prognosis.

  Case Report Top

A 3-month-old infant, first born male child of nonconsanguineous marriage, was referred as a case of congenital glaucoma for evaluation. There was a family history of Pigmentary glaucoma (PG) in father and paternal grandmother [Table 1] and [Figure 1]a, [Figure 1]b, [Figure 1]c, [Figure 1]d. Mother noticed watering, increasing eyeball size and photophobia in both eyes (OU) since 15 days after birth and consulted outside. The child was diagnosed to have congenital glaucoma elsewhere two months back, and treated with Dorzolamide hydrochloride (2%) eye drops two times a day in both eyes (OU). Systemic examination was unremarkable and child attained normal milestones till date. On torchlight examination, bilateral buphthalmos with corneal edema and photophobia was observed [Figure 2]a.
Table 1: Family History of Pigmentary glaucoma

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Figure 1: Slit-lamp photograph of the father: (a) Diffuse illumination photo showing patent YAG-laser iridotomy (white arrowhead). (b) Slit lamp image showing deep AC with concave iris contour (white arrowhead). (c) showing Krukenberg spindle along the corneal endothelium (white arrowhead). (d) UBM image showing wide open angle, deep AC, concave iris contour with midperipheral iridolenticular contact (white arrowhead) (Image taken before YAG PI)

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Figure 2: (a) Clinical photography of Left eye at presentation showing megalocornea with corneal edema with 360 degree CEU. (b) Intraoperative image of LE showing corneal clouding. (c and d) Intraoperative images showing trabeculotomy with Harms trabeculotome and Trabeculectomy with Kellys Descemet punch. (e) showing diffuse, avascular bleb. (f) showing deep anterior chamber depth with small spherical lens

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On examination under anesthesia (EUA) using Sevoflurane, bilateral megalocornea with increased corneal diameter (horizontal/vertical Right eye (OD) -15/14.5 mm, Left eye (OS)-14.5/14 mm) and corneal stromal edema [Figure 2]b more in OD than OS was observed. Furthermore, the child had multiple areas of iris stromal thinning and 3600 CEU in OU. Intraocular pressure (IOP) by Perkins tonometry (Haag-Streit, Koeniz, Switzerland) was 32 mmHg OD & 36 mm Hg OS. Gonioscopy & Fundus evaluation OU was hazy due to corneal edema. Axial lengths (AL) were 22.32 mm OD, 22.05 mm OS. Refraction and keratometry was not done due to severe corneal edema. The child was diagnosed as secondary glaucoma associated with nonacquired ocular anomaly (CEU) according to CGRN (Childhood Glaucoma Research Network) classification. Subsequently, the child underwent simultaneous combined Trabeculotomy and Mitomycin-C (MMC) augmented Trabeculectomy OU [Figure 2]c and [Figure 2]d. Postoperative period was uneventful and child was advised tapering doses of combination of steroid antibiotic (0.3% Tobramycin +0.1% Dexamethasone) eyeointment along with cycloplegics (1% Atropine ointment) for a period of 8 weeks.

At 12-week follow-up, child was examined under EUA which revealed OU megalocornea (Horizontal/Vertical- 13.5/13 mm OD, Horizontal/Vertical-13/12.5 mm OS), mild central corneal haze, very deep anterior chamber (AC), avascular bleb [Figure 2]e and [Figure 2]f, updrawn & dilated pupil, 3600 CEU, microspherophakic lens with complete visibility of lens equator and pigments over posterior capsule along the zonular attachment [Figure 3]a and [Figure 3]b. IOP was 20 mmHg OD, 16 mmHg OS and fundus OU showed large myopic disc with CDR-0.65 OD & CDR-0.6 OS. Peripheral retinal evaluation excluded pigmentary retinopathy. Refraction values showed -19D OD & -18D OS. Ocular biometry (Micro-Medical-Devices Palmscan AK2000 Pro-A scan & Keratometer) showed the following values -AL 21.89 mm OD, 21.67 mm OS, AC depth- 4.12 mm OD, 4.02 mm OS, anteroposterior lens thickness (LT)- 4.85 mm OD, 4.7 mm OS and keratometry (K1/K2) - 40.71/42.88 OD, 40.66/42.13 OS. Gonioscopy OU revealed trabeculodysgenesis with anterior insertion of iris. Hence, the clinical diagnosis was revised as secondary glaucoma associated with N-CEU and microspherophakia. The child was advised glasses only with (-18D) and periodically review every 3 months to exclude progressive glaucomatous damage.
Figure 3: (a) Clinical photograph taken at 12 weeks follow-up- showing bilateral relatively clear cornea with central corneal haze, megalocornea, 3600 N-CEU close to the pupillary area, dilated &irregular pupil, microspherophakia with visibility of lens equator, pigments on posterior capsule along the area of zonular attachments. (b) pigment deposition on posterior capsule along the area of zonular attachments

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  Discussion Top

CEU is the failure of primordial endothelium to completely regress or there may be a late developmental arrest of neural crest tissue in utero.[1],[2] CEU was first described by Wicherkiewicz B in 1891.[4],[5] Dowling et al. described unilateral CEU, iris stromal hypoplasia, anterior insertion of the iris root, and glaucoma, with no underlying systemic abnormalities.[1] In the case series reported by Ritch et al. which included 8 patients with CEU, seven of 8 patients developed glaucoma and the systemic associations were Neurofibromatosis, Prader–Willi syndrome, Rieger anomaly, and facial hemihypertrophy, suggesting the possibility of a neural crest cell disorder.[6] Harasymowycz et al. reported glaucoma in a 3-year-old child, whose histopathologic examination from the iridectomy site showed a fibrovascular membrane covering the anterior surface of the iris stroma.[7]

The extent of ectropion uveae observed in our child was less extensive than the previously reported cases. A recent case series report by Kaushik et al. described Neonatal-onset ectropian uveae (N-CEU) as a phenotypically and genotypically distinct entity from the typical CEU described in literature so far.[4] 13 of 16 (81.2%) eyes with PCG had a good outcome compared to 6 of 20 (30%) N-CEU eyes.

The described case report with a history of PG in two generations highlights a rare presentation of secondary childhood glaucoma as infantile buphthalmos, N-CEU, angle dysgenesis, microspherophakia and high myopia. The updrawn pupil in OS and pigment dispersion over the posterior capsule along the zonular attachment observed during follow-up visits are probably as a consequence of surgery related pigment release from the uveal tissues.

The probable differential diagnosis of this clinical entity is microspherophakia associated with anterior segment dysgenesis. Childhood onset anterior segment dygenesis has been sparsely reported in literature.[3],[8],[9] Recently, Shakrawal et al. described a 13-year boy with bilateral multiple anterior segment anomalies like prominent Schwalbe's line, shallow anterior chamber, iris stromal thinning, ectropion uveae, corectopia, microspherophakia and left eye had posterior synechiae with iridocorneal adhesions.[9] Though genetic testing for CYP1B1, PAX6, FOXC1, or PITX2 was suggested for our child, parents declined.

Childhood glaucoma associated with multiple developmental ocular abnormalities are usually refractory to medical therapy necessitating more than one surgical intervention for controlling IOP. Hence, this child need close monitoring of glaucomatous progression to avoid glaucoma related blindness.

  Conclusion Top

This is a rare case of secondary glaucoma associated with non-acquired ocular anomalies in a 3-month infant with a family history of pigmentary glaucoma in two generations, presenting as bilateral buphthalmos associated with ectropion uveae, microspherophakia, and high myopia.


Theatre staff nurse Regina P K and Photographer Mr. Rajkumar, Aravind Eye Hospital and postgraduate institute of ophthalmology, Madurai, Tamil Nadu, India.

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


Conflicts of interest

There are no conflicts of interest.

  References Top

Dowling JL Jr, Albert DM, Nelson LB, Walton DS. Primary glaucoma associated with iridotrabecular dysgenesis and ectropion uveae. Ophthalmology 1985;92:912-21.  Back to cited text no. 1
Sethi HS, Pal N, Dada T. Bilateral juvenile glaucoma with irido- trabecular 363 dysgenesis, congenital ectropion uveae, and thickened corneal nerves. Eye (Lond) 2005;19:1347-9.  Back to cited text no. 2
Rastogi A, Goel S, Kaur S, Vardhan P. Microspherophakia associated with Axenfeld-Rieger syndrome. J AAPOS 2010;14:364-6.  Back to cited text no. 3
Kaushik S, Dhingra D, Vibha B, Saini A, Gupta G, Snehi S, et al. Neonatal-onset congenital ectropion uveae: A distinct phenotype of newborn glaucoma. Am J Ophthalmol 2020;223:83-90.  Back to cited text no. 4
Wicherkiewicz B. Contribution to the knowledge of the ectropion uveae congenitum. Graefes Arhiv Ophthalmol 1891;37:204-7. (Translated from German to English).  Back to cited text no. 5
Ritch R, Forbes M, Hetherington J Jr, Harrison R, Podos SM. Congenital ectropion uveae with glaucoma. Ophthalmology 1984;91:326-31.  Back to cited text no. 6
Harasymowycz PJ, Papamatheakis DG, Eagle RC, Wilson RP. Congenital ectropion uveae and glaucoma. Arch Ophthalmol 2006;124:271-3.  Back to cited text no. 7
Khakshoor H, Ansari-Astaneh MR, Shoeib M, Schliesser JA, Moshirfar M. Double anterior chamber in a patient with glaucoma and microspherophakia. Indian J Ophthalmol 2011;59:319-22.  Back to cited text no. 8
[PUBMED]  [Full text]  
Shakrawal J, Selvan H, Sharma A, Angmo D. Double trouble: Microspherophakia with Axenfeld-Rieger anomaly. Indian J Ophthalmol 2019;67:394-5.  Back to cited text no. 9
[PUBMED]  [Full text]  


  [Figure 1], [Figure 2], [Figure 3]

  [Table 1]


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