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| PHOTO ESSAY |
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| Year : 2023 | Volume
: 3
| Issue : 2 | Page : 553-554 |
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Moon in the dark horizon—Subluxated cataract with aniridia and keratopathy
Bala Saraswathy, Kalpana Narendran
Department of Cataract Services, Aravind Eye Hospital, Coimbatore, Tamil Nadu, India
| Date of Web Publication | 28-Apr-2023 |
Correspondence Address:
Bala Saraswathy
Aravind Eye Hospital, Civil Aerodrome Post, Avinashi Road, Coimbatore - 641 014, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/IJO.IJO_307_23
How to cite this article:
Saraswathy B, Narendran K. Moon in the dark horizon—Subluxated cataract with aniridia and keratopathy. Indian J Ophthalmol Case Rep 2023;3:553-4 |
How to cite this URL:
Saraswathy B, Narendran K. Moon in the dark horizon—Subluxated cataract with aniridia and keratopathy. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jun 2];3:553-4. Available from: https://www.ijoreports.in/text.asp?2023/3/2/553/375016 |
A 25-year-old male patient presented to our hospital with defective vision in both eyes since childhood. He has been diagnosed with WAGR (Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome. He underwent nephrectomy for Wilms' tumor and later kidney transplantation due to kidney failure. The patient was on antiglaucoma medications for high intraocular pressure (IOP) in both eyes for the past 5 years. Vision in both eyes was 5/60, not improving with pinhole. Intraocular pressures were 18 and 19 mm of Hg which were normal. On anterior segment examination, the patient had bilateral aniridia with superotemporal subluxated mature intumescent cataract and peripheral corneal vascularization with small inferior corneal opacity (aniridic keratopathy) due to limbal stem cell dysfunction [Figure 1]a and [Figure 1]b in the left eye and cortical cataractous lens with keratopathy and aniridia in the right eye [Figure 2]. Posterior segment evaluation was hazy due to corneal opacity. On ultrasound (USG) examination, both eyes had a high axial length [Figure 3]. The patient was advised to continue antiglaucoma medications and lens extraction in the left eye, if the patient was willing, under a very guarded prognosis as visual potential was low. | Figure 1: (a) Retro illumination of the left eye showing aniridia with superotemporal subluxated mature cataract with aniridic keratopathy (b) showing the same in diffuse illumination mimicking moon in the dark horizon
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 | Figure 2: Right eye slit-lamp examination showing aniridia with the cataractous lens with keratopathy
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| Discussion | |  |
WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms' tumor, aniridia, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation).[1] WAGR syndrome eye problems include aniridia, glaucoma, cataract, nystagmus, and keratopathy. The visual function in aniridia varies from near normal to blindness. The more serious cases where blindness occurs are not due to the aniridia but due to associated conditions such as cataracts, subluxation of the lens, glaucoma, foveal hypoplasia, corneal dystrophy, and nystagmus. Deletion or mutations involving the PAX6 gene have been implicated in the pathogenesis of various anterior segment anomalies.[2],[3] More commonly, superior subluxation of the lens are seen as associated with aniridia; here in our case, it is unique because all associated features with WAGR syndrome present along with superotemporal subluxation of mature cataract with high myopia.
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 initial s will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Breslow NE, Norris R, Norkool PA, Kang T, Beckwith JB, Perlman EJ, et al. Characteristics and outcomes of children with the Wilmstumor-Aniridia syndrome: A report from the National WilmsTumor Study Group. J Clin Oncol 2003;21:4579-85.  |
| 2. | Palayil I, Priya SG, Sivan NV, Madhivanan N, Venkatachalam PS, Jagadeesan M. Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family. Indian J Ophthalmol 2018;66:229-32. [ PUBMED] [Full text] |
| 3. | Ratna R, Tibrewal S, Gour A, Gupta R, Mathur U, Vanita V. A rare case of congenital aniridia with an unusual run-on mutation in PAX6 gene. Indian JOphthalmol 2022;70:2661. |
[Figure 1], [Figure 2], [Figure 3]
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