|Year : 2022 | Volume
| Issue : 1 | Page : 103-105
Primary tubes in siblings of a South Indian family with total aniridia and glaucoma
Vijayalakshmi A Senthilkumar, Thandra Sai Shreya, Sharmila Rajendrababu, R Krishnadas
Department of Glaucoma, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
|Date of Submission||14-Apr-2021|
|Date of Acceptance||23-Jul-2021|
|Date of Web Publication||07-Jan-2022|
Dr. Sharmila Rajendrababu
Glaucoma Consultant, Department of Glaucoma, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai - 625 001, Tamil Nadu
Source of Support: None, Conflict of Interest: None
Aniridia is an uncommon hereditary bilateral panocular disorder affecting not only the iris but also the cornea, anterior chamber angle, lens, retina, and optic nerve with associated life-threatening conditions. Glaucoma is associated with aniridia in around 50% of the cases and usually develops in the first two decades of life. The treatment of glaucoma is challenging and often needs surgical intervention to achieve adequate intraocular pressure (IOP) control in cases refractory to medical treatment. Here, we report the familial nature of aniridia with secondary glaucoma and discuss the challenges in the management with a comprehensive review of the literature. The elder one, a 16-year-old girl presented with absolute glaucoma in the right eye and high IOP with advanced disk damage in the left eye for which she underwent a non-valved glaucoma drainage implantation. The younger one, a 12-year-old boy presented with a high IOP of more than 40 mmHg in both eyes (OU) for which he underwent sequential glaucoma drainage devices (GDD) implantation in OU. The intermediate-term outcomes in both of them showed a well-placed Aurolab aqueous drainage implant (AADI) tube with adequately controlled IOP.
Keywords: Aniridia, Aurolab aqueous drainage implant, glaucoma, glaucoma drainage device
|How to cite this article:|
Senthilkumar VA, Shreya TS, Rajendrababu S, Krishnadas R. Primary tubes in siblings of a South Indian family with total aniridia and glaucoma. Indian J Ophthalmol Case Rep 2022;2:103-5
|How to cite this URL:|
Senthilkumar VA, Shreya TS, Rajendrababu S, Krishnadas R. Primary tubes in siblings of a South Indian family with total aniridia and glaucoma. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Jan 16];2:103-5. Available from: https://www.ijoreports.in/text.asp?2022/2/1/103/334985
Congenital aniridia is a rare condition affecting both eyes and is associated with PAX 6 mutation located on chromosome 11 (11p13). Two-thirds of the cases are autosomal-dominant., The intraocular pressure (IOP) elevation in aniridia is due to angle-closure due to progressive anterior rotation of the rudimentary iris, cleavage abnormalities of the anterior chamber angle, and dysgenesis of the Schlemm canal., Trabeculectomy is the most commonly performed primary surgical procedure, but recently, glaucoma drainage devices (GDD) have been increasingly utilized as an alternative with promising results.,
| Case Reports|| |
A 16-year-old girl was referred with bilateral congenital aniridia and high IOP. She underwent cataract surgery in both eyes (OU) 7 years back elsewhere. On presentation to us in August 2019, she was found to be monocular with nil visual potential in the right eye (OD) and the best-corrected visual acuity (BCVA) in the left eye (OS) was 20/40. The anterior segment examination OU revealed conjunctival xerosis with circumferential pannus suggestive of limbal stem cell deficiency, total aniridia, and a superiorly decentered scleral-fixated intraocular lens (SFIOL) in OS [Figure 1]a and [Figure 1]b. The IOP was 40 and 30 mmHg in OD and OS, respectively, by Goldmann tonometer and the central corneal thickness (CCT) OU was 600 microns. The posterior pole evaluation OS showed a 0.8 cup-disk ratio (CDR). The systemic examination of the child was unremarkable. She was diagnosed to have bilateral congenital total aniridia with secondary glaucoma The Childhood glaucoma research network classification (CGRN classification) and was started on maximum antiglaucoma medications. As the IOP in the OS remained persistently high despite maximal medical treatment, she underwent a non-valved AADI (Aurolab aqueous drainage implant) [Figure 2]a, [Figure 2]b, [Figure 2]c, [Figure 2]d. Ocular hypotony was noted at 1-month follow-up visit after autolysis of the tube ligature suture (6-0 vicryl suture, Aurolab, Madurai, India) and was managed conservatively with cycloplegics and steroid eye drops. At 18 months of follow-up, IOP and BCVA OS remained stable at 16 mmHg and 20/40, respectively.
|Figure 1: (Case 1): (a and b) Slit-lamp images OD and OS showing conjunctival xerosis with circumferential pannus suggestive of limbal stem cell deficiency, total aniridia, and a superiorly decentered SFIOL in OS|
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|Figure 2: (Case 1): Intraoperative images taken during AADI surgery in OS. (a) Showing fornix-based conjunctival flap and placement of AADI plate beneath the lateral rectus muscle. (b) Showing the surgical step of temporary tube occlusion with 6-0 vicryl suture. (c) Showing a good anterior beveled tube tip (white arrowhead) which is imperative for entering the anterior chamber without any difficulty. (d) Showing a well-placed AADI tube in AC (white arrowhead)|
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As aniridia is known to be a familial clinical entity, her 12-year-old brother was evaluated in January 2020 and found to have bilateral congenital aniridia with secondary glaucoma. On examination, BCVA in OD was 20/400 and OS 20/50, CCT OD: 649 microns, OS: 650 microns. The anterior segment evaluation revealed conjunctival xerosis with limbal stem cell deficiency leading to 360° pannus and aniridia OU, diffuse epithelial edema, zonular cataract with posterior polar cataract, inferior lens coloboma in OD, a few lenticular opacities with inferior lens coloboma, and inferiorly stretched and absent zonules in OS [Figure 3]a, [Figure 3]b, [Figure 3]c. IOP was 44 mmHg OD and 40 mmHg OS. The fundus examination showed advanced glaucomatous disc damage with 0.9 CDR OD and 0.8 CDR OS. The systemic examination of the child was unremarkable. Since the IOP was refractory to multiple medical treatments in OS, the AADI was planned initially in the OS to preserve vision. The postoperative course was uneventful and the IOP remained consistently in the low teens (12–14 mmHg). As the response to AADI in OS was good, a similar surgery was planned in OD to preserve the residual vision [Figure 4]a, [Figure 4]b, [Figure 4]c, [Figure 4]d. Postoperatively, the patient developed a 360° choroidal detachment (CD) on day 40, secondary to hypotony after the autolysis of tube ligature. The IOP lowering agents were discontinued and cycloplegics were started in OD and observed closely. A month later, the CDs resolved and IOP remained stable at 16 mmHg. A 12-month-follow-up showed a well-placed AADI tube with a stable IOP of 14 mmHg OD, 16 mmHg OS, and BCVA of 20/400 OD and 20/50 OS, and a focal lenticular opacity with contraction lines in the anterior lens capsule OS due to the AADI tube touching the lens [Figure 3]d.
|Figure 3: (Case 2): (a-d) Slit-lamp images showing conjunctival xerosis with limbal stem cell deficiency leading to 360° pannus and aniridia OU, diffuse epithelial edema, zonular cataract with posterior polar cataract, inferior lens coloboma in OD, a few lenticular opacities with inferior lens coloboma and inferiorly stretched and absent zonules in OS. (d) Twelve-month follow-up slit-lamp image OS showing a well-placed AADI tube with a focal lenticular opacity and contraction lines in the anterior lens capsule (white arrowhead) due to the AADI tube touching the lens|
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|Figure 4: (Case 2): Intraoperative images taken during AADI surgery in OD. (a) Showing a well-placed lateral wings of the AADI plate beneath the superior and lateral rectus muscle. (b) Showing ensuring complete tube occlusion after 6-0 vicryl suture by noting the kinking of the tube (white arrowhead). (c) Showing the surgical step of trimming the tube with Vannas scissors 2 mm anterior to the limbus (white circle). (d) Showing a well-placed AADI tube in AC|
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| Discussion|| |
Glaucoma or ocular hypertension associated with aniridia has been reported to occur in 6–75% of the patients and develops during the first two decades of life.,,, Aniridia is associated with keratopathy due to a deficiency of limbal stem cells leading to increased corneal thickness, irregularity, neovascularization, and opacification. Both the siblings in the reported case series presented with a spectrum of bilateral congenital total aniridia, keratopathy, lenticular coloboma with congenital cataracts, and glaucoma without any systemic abnormalities. These phenotypic characteristics point toward PAX6 mutation. The father of the two siblings had reported bilateral aniridia with glaucoma, but could not afford the genetic analysis.
Initially, topical antiglaucoma medications may be used, but glaucoma associated with aniridia requires surgery in the majority of cases. Goniosurgery, trabeculotomy, trabeculectomy, GDDs, and cyclodestructive procedures have all been used to manage glaucoma association with aniridia with variable success rates.,,,,, Prophylactic goniosurgery for selected young children with progressive angle changes appears to be effective in preventing or delaying the onset of aniridic glaucoma. Trabeculotomy or even goniotomy may be helpful in young aniridic patients with glaucoma with no angle-closure or only a small, low residual iris., Trabeculectomy is generally the first surgery performed in aniridic glaucoma that is not controlled by medical treatment. However, the reported success rate for the initial filtering procedure alone is 0–9%. Hence, GDD are a reasonable alternative. Cyclodestructive procedures are reserved for refractory cases.
GDD is very efficient in controlling IOP in glaucoma associated with aniridia with reported long-term success rates ranging between 66 and 100%.,, However, certain challenges exist when implanting a GDD in a patient with aniridia. Some surgeons have advocated the use of a limbus-based rather than a fornix-based conjunctival flap in the eyes with limbal stem cell deficiency, including aniridia. This approach avoids the destruction of the limbal stem cells. The lens is more vulnerable to injury with tube insertion in patients with aniridia, and it is recommended to position the tube peripherally over the zonules to avoid inadvertent violation of the lens capsule as seen with our second child. Delayed hypotony seen with non-valved devices after lysis of tube occlusion suture can be avoided by placing a ripcord suture.
| Conclusion|| |
We have chosen to proceed with a glaucoma drainage device, i.e., AADI as a primary mode of intervention as it offers a good long-term IOP control with the need for fewer IOP lowering agents. Additionally, the need for the use of anti-fibrotic agents required in trabeculectomy can be avoided as they are detrimental to the cornea and can further worsen keratopathy. However, these patients need close monitoring postoperatively due to the unprecedented clinical course of the disease.
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.
Mr. Rajkumar, Photographer, Aravind eye hospital and Postgraduate Institute of ophthalmology, Madurai, India
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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