From the Department of Ophthalmology, Women’s and Children’s Hospital, North Adelaide, Australia.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Edward Rickie Chu, MBBS, Department of Ophthalmology, Women’s and Children’s Hospital, North Adelaide, South Australia 5006, Australia.
Congenital pupillary-iris-lens membrane with goniodysgenesis is a unilateral, sporadic, and congenital anomaly with the presence of a vascularized pupillary membrane on the surface of the iris that further adheres to the posterior embryotoxon. Early recognition of this condition is vital to enable nonsurgical or surgical management, to abort its progressive course, and to prevent secondary vision-threatening complications such as amblyopia and glaucoma. Differential diagnoses include anterior persistent fetal vasculature and Rieger’s anomaly. We present a child with congenital pupillary-iris-lens membrane with goniodysgenesis who was initially treated surgically and is currently receiving amblyopia therapy.
A 3½-week-old male infant born at term via normal vaginal delivery in a country hospital was referred by his pediatrician for evaluation of right corneal haziness. The child was healthy with no significant family history. On examination, the right eye revealed leukocoria with a direct ophthalmoscope. Examination under anesthesia of the eyes revealed clear corneas bilaterally. The horizontal corneal diameter was 10 mm in the right eye and 10.75 mm in the left eye. Preintubation intraocular pressure (IOP) measured with a Perkins applanation tonometer was 12 and 14 mm Hg in the right and left eyes, respectively. Axial lengths measured with an A-scan were 17.42 mm in the right eye and 17.5 mm in the left eye.
The right pupillary area had a vascularized fibrous membrane extending onto the superotemporal iris surface, causing a slight superotemporal correctopia (Fig. 1A). The right pupil was dilated with cyclopentolate 0.5% and phenylephrine 2.5% eye drops, revealing an underlying anterior capsular and subcapsular cataract (Fig. 1B). A 360° embryotoxon was noted, and gonioscopic examination showed anterior iridocorneal adhesions (Fig. 2A). The surface of the iris demonstrated prominent iris vessels and fibrovascular membrane extending toward the posterior embryotoxon (Fig. 2B). The right posterior pole including the optic disc appeared normal despite limited view with funduscopy. The left anterior segment and fundus were also normal. Ultrasound examination of both eyes confirmed normal posterior segments with no evidence of posterior hyaloid remnants.
Figure 1. (A) Undilated Right Pupil Demonstrating Congenital Pupillary-Iris-Lens Membrane with Superotemporal Correctopia. (B) Dilated Right Pupil with Better Appreciation of the Membrane and Its Extension Toward Schwalbe’s Line.
Figure 2. (A) Magnified Gonioscopic Image Demonstrating Anterior Iridocorneal Adhesions and Membrane Extensions to Schwalbe’s Line. (B) Dilated Vessels Seen on the Iris and Presence of Posterior Embryotoxon.
At 4 weeks of age, the child underwent a right membranectomy with endodiathermy, lensectomy, and anterior vitrectomy that resulted in a clear visual axis (Fig. 3A). In this instance, endodiathermy was used to ablate radial vessels extending from the iris toward the pupillary membrane due to potential risk of intraoperative bleeding. Postoperatively, atropine 0.5% eye drops once daily and prednisolone 1%/phenylephrine 0.12% combination eye drops six times daily were used and the latter was gradually tapered over 6 weeks. He underwent simultaneous aphakic rehabilitation with a rigid gas-permeable contact lens and patching therapy.
Figure 3. (A) After Right Membranectomy via Endodiathermy, Lensectomy, and Anterior Vitrectomy Resulted in a Clear Pupil. (B) Right Eye at 7 Months of Age After Membranectomy and Pupilloplasty Demonstrating the Irregular Iris and Capsule Remnant.
Twelve weeks postoperatively, examination under anesthesia of the eyes revealed poor red reflex in the right eye. The axial length, horizontal corneal diameter, and preintubation IOP were 18.97 and 19.56 mm, 10 and 11 mm, and 22 and 19 mm Hg in the right and left eyes, respectively. In addition, slit-lamp examination of the right eye revealed secondary membrane formation in the pupillary area along with posterior synechiae at the pupil margin from the 2- to 10-o’clock positions. Fifteen weeks following the initial surgery, the child underwent anterior vitrectomy and pupilloplasty with the vitrector. The child also had his contact lens refitted. Postoperatively, he was given the same medications used after his initial surgery, but this time the prednisolone 1%/phenylephrine 0.12% combination eye drops were given every 2 hours for the first 48 hours, tapered to 4 times a day over the next week, and futher tapered to cessation over 8 weeks.
The irregular iris and capsule remnant in the right eye after membranectomy and pupilloplasty at 7 months of age are shown in Figure 3B. At his last visit at 13 months of age, there was no nystagmus. Cornea and visual axis remained clear with equal bright red reflexes. IOPs were normal. Teller’s grating acuity test was 6/213 in the right eye (contact lens aided) and 6/57 in the left eye (unaided). Currently, he is receiving 4 hours of patching in his left eye and is tolerating this well.
Our patient demonstrated a fibrous membrane that covered the pupil, attached posteriorly to the pigment layer at the pupillary margin, extended over the iris surface (anterior iris stroma), and connected to a prominent Schwalbe’s line. Also demonstrated was the recurrence of the pupillary membrane with further contracture of the superotemporal iris. These features are consistent of congenital pupillary-iris-lens membrane and the above characteristics have been described in other cases.1–5 Congenital pupillary-iris-lens membrane is a unilateral neurocristopathy affecting the development of the anterior chamber and chamber angle.2 A patient with the same diagnosis has been described with iris adhesions and absent connection between the membrane and Schwalbe’s line.6 The involved membrane eccentrically deforms the pupil into a small and slit-like appearance and sometimes increases in size, resulting in amblyopia or glaucoma, wherein the latter is a result of seclusion of the pupil and subsequent pupillary block.4 Histology of the membrane reveals ectopic iris with a central dense collection of stromal fibroblasts with minimal collagen and is thought to be neural crest in origin.6 Unfortunately, in our case, we missed the opportunity of histologic examination of the excised tissue.
The pathophysiology involves vascular disruption to the pupillary membrane inhibiting regression of neural crest cells, which leads to the formation of pupillary-iris-lens membrane, prominent Schwalbe’s ring, goniodysgenesis, and the connection between Schwalbe’s ring and ectopic iris.1,6 In addition, the iris stroma, which is also a neural crest cell derivative, when interrupted appears undulated as seen in our patient and is comparable to a previous case report.6
Differential diagnoses of congenital pupillary-iris-lens membrane with goniodysgenesis include anterior persistent fetal vasculature and Rieger’s anomaly. These two conditions were unlikely diagnoses in our patient. Persistent fetal vasculature does not have a vascularized pupillary membrane on the surface of the iris extending to the Schwalbe’s line, as opposed to our case, wherein there is a clearly identified vascular membrane over the iris surface extending beyond the collarette and features of goniodysgenesis shown in Figure 2. In addition, the recurrence of the pupillary membrane further supports the diagnosis of congenital pupillary-iris-lens membrane because this is a well-noted diagnostic feature.5 The unilateral involvement, lack of family history, and absence of iris stromal hypoplasia and typical circumferential iris-trabecular meshwork processes makes Rieger’s anomaly less likely.1–3
Early diagnosis and close monitoring of the congenital pupillary-iris-lens membrane with gonio-dysgenesis is vital to prevent vision-threatening consequences such as amblyopia and glaucoma. Non-surgical management such as occlusion therapy, the use of best-corrected spectacles, and pupillary dilatation, and surgical management, including membranectomy with or without lensectomy, pupilloplasty, or peripheral iridectomy, can be considered.4 Normal vision may be achieved in some patients.7
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- Deshpande N, Shetty S, Krishnadas SR. Pupillary-iris-lens membrane with goniodysgenesis: a case report. Indian J Ophthalmol. 2006;54:275–276. doi:10.4103/0301-4738.27957 [CrossRef]
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- Robb RM. Fibrous congenital iris membranes with pupillary distortion. Trans Am Ophthalmol Soc. 2001;99:45–50.
- Connor A, Innes J, Gnanaraj L. Recurrence of congenital pupillary-iris-lens membrane after surgical excision. J Pediatr Ophthalmol Strabismus. 2009;Oct2:1–3. doi: 10.3928/01913913-20090918-05. [Epub ahead of print]
- Cibis GW, Tripathi RC, Tripathi BJ. Surgical removal of congenital pupillary iris-lens membrane. Ophthalmic Surg. 1994;25:580–583.
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