Purpose
To determine the visual outcomes and effectiveness of glaucoma surgeries in congenital ectropion uvea.
Design
Retrospective interventional case series.
Methods
Surgeries and examination findings were collected on 11 eyes of 8 patients with congenital ectropion uvea at 2 academic sites from 2001 to 2021. Visual outcomes, surgical success (intraocular pressure [IOP]: 5-20 mm Hg, no additional IOP-lowering surgery, no visually devastating complications), and survival rates of glaucoma surgeries were assessed.
Results
Glaucoma in bilateral congenital ectropion uvea was diagnosed at an earlier age (0.02 ± 0.01 years) than unilateral disease (8.9 ± 5.3 years, P = .002). All eyes required glaucoma surgery with 91% requiring multiple surgeries (3.5 ± 2.1, median 3 surgeries per eye). Trabeculotomy (8 eyes) showed 13% success rate. Although none of the 4 eyes that underwent trabeculectomy with mitomycin C needed repeat trabeculectomy, glaucoma drainage device placement, or cycloablation, 75% required bleb revision surgery. Glaucoma drainage devices (7 eyes) had a 57% success rate with 3 eyes requiring subsequent cycloablation (2) or trabeculectomy (1). At the final follow-up (8.5 ± 6.6 years, median: 7.9 years), all eyes achieved IOP control, and IOP was lower compared with presentation (13.2 ± 2.6 mm Hg vs 32.9 ± 9.9 mm Hg, P = .002). Best-corrected logarithm of the minimum angle of resolution visual acuity at the final follow-up was 0.2 ± 0.2.
Conclusions
Bilateral congenital ectropion uvea presents with glaucoma earlier than unilateral cases. The majority of eyes required multiple glaucoma surgeries. Angle surgery was less effective than trabeculectomy or glaucoma drainage devices. IOP control was obtained in all eyes and affected individuals had good visual outcomes.
C ongenital ectropion uvea is a rare ocular disease that is defined by the anterior displacement of the pigment epithelium through the pupil and onto the iris surface. , To date, fewer than 100 cases have been reported in the literature, and in the majority of these patients, congenital ectropion uvea was an isolated finding. However, congenital ectropion uvea has been associated with other ocular abnormalities including iris coloboma, enlarged corneal nerves, and blepharoptosis as well as systemic diseases such as Axenfeld-Rieger syndrome, neurofibromatosis type 1, Prader-Willi syndrome, facial hemihypertrophy, gingival hyperplasia, and intestinal neuronal dysplasia. , ,
Patients with congenital ectropion uvea are at high risk for glaucoma, which is typically diagnosed between infancy and early adulthood. , Although the classic teaching states that congenital ectropion uvea is nonprogressive, studies have shown that although open dysplastic angles cause increased pressure in young children, there is progression to angle closure by early adulthood. , Furthermore, although most cases are unilateral, bilateral congenital ectropion uvea has been reported and is associated with neonatal-onset glaucoma that has a worse prognosis than primary congenital glaucoma.
To the best of our knowledge, there are 4 previous case series (with more than 3 patients) in the English literature that describe a total of 32 patients with congenital ectropion uvea. , , , We add to the literature, as we present a series of 8 patients with congenital ectropion uvea including both unilateral and bilateral involvement.
METHODS
A retrospective case series identified 11 eyes of 8 patients diagnosed with congenital ectropion uvea between January 2001 and March 2021. Patients were identified by international classification of disease code search within the electronic medical record. This study was designated exempt by the Institutional Review Board at the University of Michigan and the Ann & Robert H. Lurie Children’s Hospital of Chicago. Data collection was deidentified and Health Insurance Portability and Accountability Act compliant.
Collected data included age at the time of diagnosis of congenital ectropion uvea and glaucoma, gender, ocular, and systemic findings, intraocular surgeries, dates of surgeries, surgical procedure details, and intraoperative and postoperative complications. The diagnosis of congenital ectropion uvea was made clinically. Glaucoma was defined by at least 2 repeated intraocular pressure (IOP) measurements greater than 21 mm Hg and accompanying signs of corneal edema, Haab’s striae, optic nerve cupping, or buphthalmos. Examination details collected for each visit were best-corrected visual acuity, IOP, ocular medications, slitlamp, gonioscopic, and fundoscopic findings. IOP was measured by Icare (Revenio), Tono-pen (Reichert), or Goldmann Applanation. Preoperative IOP and ocular medications were last recorded values before surgery. Visual acuity was determined using age and developmentally appropriate measures. In nonverbal individuals, vision was assessed by ability to fixate on and follow objects and ocular preference. Visual acuity as measured by optotypes was converted to the logarithm of the minimum angle of resolution (logMAR) scale. A greater than 2-line difference in visual acuity was considered significant when comparing initial and final values. IOPs were measured by Icare (Revenio), Tono-pen (Reichert), or Goldmann Applanation.
Glaucoma surgical procedures including trabeculotomy, combined trabeculotomy and trabeculectomy, contact transscleral cyclophotocoagulation, trabeculectomy with antifibrotics, and glaucoma drainage device placement were generally performed using standard techniques. Trabeculotomies were performed from a superior or temporal approach as previously described, using the Harms trabeculotomes or an illuminated microcatheter (iTRACK 250A; iScience Interventional) to incise the trabecular meshwork. For combined trabeculotomy and trabeculectomy, the trabeculotomy was completed with Harms trabeculotomes and then aqueous humor egression from under the scleral flap was adjusted using 10-0 nylon sutures. Contact transscleral cyclophotocoagulation was performed 180° to 270° with the G-probe (Iridex) and diode 810 nM laser (Iridex). For trabeculectomies with antifibrotics, 50 mg/mL 5-fluorouracil or 0.2 to 0.4 mg/mL mitomycin C (MMC) was applied to the scleral bed through pledgets for 2 to 5 minutes or injected subconjunctivally before incision. Flow through the trabeculectomy flap was adjusted in the first 1 to 2 postoperative weeks using laser suture lysis. Implantation of glaucoma drainage devices was performed as previously described. The choice of Ahmed FP7 (New World Medical) or Baerveldt 101-350 (Abbott Medical Optics) was based on surgeon preference, preoperative IOP, extent of glaucoma damage, and eye size. For some of the Ahmed FP7 devices, Ologen (Aeon Astron) was placed on the plate at the time of implantation. For Baerveldt 101-350 devices, the tube was either temporarily ligated with a 6-0 polyglactin suture or implanted as a staged procedure. Success of glaucoma surgery was defined as an IOP of 5 to 20 mm Hg with or without topical glaucoma medications and no additional IOP-lowering surgery or visually-devastating complications.
GraphPad Prism 7.0 (GraphPad) was used for statistical analyses including Kaplan-Meier survival curves with 95% confidence interval (CI) and the Wilcoxon test for initial and final comparisons. The reported P values were 2-tailed. P values less than .05 were considered statistically significant.
RESULTS
Eight patients (11 eyes) with congenital ectropion uvea were diagnosed with glaucoma ( Table 1 ) at 5.6 ± 6.1 years of age (median: 4.1 years, range: 0.0-14.1 years) and presented to our institutions at 8.6 ± 10.8 years of age (median: 4.9 years, range: 0.0-30.1 years). None of the patients had a family history of juvenile onset glaucoma or congenital ectropion uvea. Five patients had unilateral congenital ectropion uvea of the left eye and were significantly older at the time of glaucoma diagnosis (8.9 ± 5.3 years, P = .002) than the 3 patients with bilateral congenital ectropion uvea (0.02 ± 0.01 years). The 3 patients with bilateral disease presented at birth with severe corneal edema and buphthalmos, which was in contrast to unilateral cases ( Table 2 ).
| Patient | Sex | Eye | Age at Presentation (y) | Age at Glaucoma Diagnosis (y) | Number of Glaucoma Surgeries | Age at First Glaucoma Surgery (y) | Glaucoma Surgeries | Length of Clinical Follow-up (y) | Length Since Initial Glaucoma Surgery (y) |
|---|---|---|---|---|---|---|---|---|---|
| 1 | M | Left | 8.7 | 8.7 | 6 | 12.6 | Trabeculectomy/trabeculectomy Baerveldt 101-350 placement Transscleral cycloablation Transscleral cycloablation Transscleral cycloablation Transscleral cycloablation | 14.1 | 9.2 |
| 2 | F | Left | 14.9 | 7.0 | 4 | 15.2 | Baerveldt 101-350 placement Baerveldt revision for increased IOP Bleb needling and transscleral cycloablation Transscleral cycloablation | 4.7 | 4.7 |
| 3 | F | Left | 14.1 | 14.1 | 5 | 14.1 | Ahmed FP7 placement Trabeculectomy with MMC Bleb revision for hypotony Ahmed FP7 removal, stage 1 baerveldt 101-350 placement Bleb needling for increased IOP Bleb revision for increased IOP | 7.1 | 7.1 |
| 4 | M | Left | 1.0 | 1.2 | 1 | 1.3 | 360° trabeculotomy | 4.1 | 4.0 |
| 5 a | F | Left | 30.1 | 13.5 | 3 | 14.0 | Trabeculectomy with MMC Bleb revision for bleb leak Bleb revision for hypotony | 10.1 | 28.0 |
| 6 | F | Right | 0.01 | 0.01 | 2 | 0.02 | 360° trabeculotomy Baerveldt 101-350 placement | 7.9 | 7.9 |
| Left | 0.01 | 0.01 | 3 | 0.04 | 180° trabeculotomy 180° trabeculotomy Baerveldt 101-350 placement | 7.9 | 7.9 | ||
| 7 | F | Right | 0.03 | 0.03 | 3 | 0.03 | 180° trabeculotomy 180° trabeculotomy Trabeculectomy with MMC | 19.0 | 19.0 |
| Left | 0.03 | 0.03 | 8 | 0.03 | 180° trabeculotomy Trabeculectomy with MMC Bleb revision for bleb leak Bleb revision for bleb leak Bleb revision for bleb leak Bleb revision for bleb leak Bleb revision for bleb leak Bleb revision for increased IOP | 19.0 | 19.0 | ||
| 8 | F | Right | 0.01 | 0.01 | 2 | 0.02 | 180° trabeculotomy Ahmed FP7 with Ologen placement | 0.3 | 0.3 |
| Left | 0.01 | 0.01 | 2 | 0.02 | 180° trabeculotomy Ahmed FP7 with Ologen placement | 0.3 | 0.3 |
a Patient 5 underwent trabeculectomy with MMC at an outside institution 17.9 years before presenting at one of our institutions.
| Patient | Sex | Systemic Findings | Eye | Slitlamp(1) Presentation(2) Final | Gonioscopy(1) Presentation(2) Final | Optic Nerve(1) Presentation(2) Final |
|---|---|---|---|---|---|---|
| 1 | M | Left hemifacial hypertrophy Left ptosis | Right | (1) Normal iris architecture (2) No change | (1) Open 360° to CBB (2) No change | (1) 0.15 (2) No change |
| Left | (1) 360° ectropion uvea, iris stromal atrophy (2) As above + tube with bleb over plate superotemporally | (1) Anterior iris insertion (2) Closed 360° | (1) 0.3 (2) 0.95 | |||
| 2 | F | Left ptosis | Right | (1) Normal iris architecture (2) No change | (1) Open 360° to CBB (2) No change | (1) 0.05 (2) No change |
| Left | (1) 360° ectropion uvea, iris stromal atrophy (2) As above + tube with bleb over plate superotemporally | (1) Unknown (2) Closed 360° | (1) 0.05 (2) 0.8 | |||
| 3 | F | Left ptosis | Right | (1) Normal iris architecture (2) No change | (1) Open 360° to CBB (2) No change | (1) 0.15 (2) No change |
| Left | (1) 360° ectropion uvea, iris stromal atrophy (2) As above + elevated and cystic bleb superonasally, GDD plate superotemporally | (1) Closed 360° (2) Closed 360° | (1) 0.95 (2) No change | |||
| 4 | M | None | Right | (1) Normal iris architecture (2) No change | (1) Open 360° to CBB (2) No change | (1) 0.1 (2) No change |
| Left | (1) 360° ectropion uvea, iris stromal atrophy (2) No change | (1) Anterior iris insertion (2) Open with 360° cleft | (1) 0.5 (2) No change | |||
| 5 | F | None | Right | (1) Normal iris architecture (2) No change | (1) Open 360° to CBB (2) No change | (1) 0.25 (2) No change |
| Left | (1) 360° ectropion uvea, iris stromal atrophy, cystic bleb superotemporally (2) No change | (1) Closed 360° (2) Closed 360° | (1) 0.95 (2) No change | |||
| 6 | F | None | Right | (1) Severe corneal edema, 360° ectropion uvea, iris stromal atrophy (2) Haabs striae + tube with bleb over plate superotemporally | (1) Unable due to corneal edema (2) Closed 360° | (1) Unable due to corneal edema (2) 0.8 |
| Left | (1) Severe corneal edema, 360° ectropion uvea, iris stromal atrophy (2) Haabs striae + tube with bleb over plate superotemporally | (1) Unable due to corneal edema (2) Closed 360° | (1) Unable due to corneal edema (2) 0.8 | |||
| 7 | F | Bilateral ptosis | Right | (1) Severe corneal edema, 360° ectropion uvea, partial aniridia with iris stromal atrophy (2) 360° ectropion uvea, partial aniridia with iris stromal atrophy, elevated, and cystic bleb superiorly | (1) Unable due to corneal edema (2) Closed 360° | (1) Unable due to corneal edema (2) 0.5 |
| Left | (1) Severe corneal edema, 360° ectropion uvea, partial aniridia with iris stromal atrophy (2) 360° ectropion uvea, partial aniridia with iris stromal atrophy, elevated and cystic bleb superiorly | (1) Unable due to corneal edema (2) Closed 360° | (1) Unable due to corneal edema (2) 0.8 | |||
| 8 | F | None | Right | (1) Severe corneal edema, 360° ectropion uvea, iris stromal atrophy (2) Improved corneal edema, 360° ectropion uvea, iris stromal atrophy + tube with bleb over plate superotemporally | (1) Unable due to corneal edema (2) Unable due to age | (1) Unable to due to corneal edema (2) 0.8 |
| Left | (1) Severe corneal edema, 360° ectropion uvea, iris stromal atrophy (2) Resolved corneal edema, 360° ectropion uvea, iris stromal atrophy, tube with bleb over plate superotemporally | (1) Unable due to corneal edema (2) Unable due to age | (1) Unable to due to corneal edema (2) 0.8 |
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