|Year : 2021 | Volume
| Issue : 3 | Page : 356-359
Superficial variant of granular corneal dystrophy-description of four cases
Aneeta Jabbar, B Radharamanan
I Vision Eye Care Centre, Thrissur, Kerala, India
|Date of Submission||18-Dec-2020|
|Date of Decision||25-Feb-2021|
|Date of Acceptance||01-Mar-2021|
|Date of Web Publication||08-Dec-2021|
Dr. Aneeta Jabbar
Department of Cornea, I Vision Eye Care Centre, KSRTC Road, Chalakudy, Thrissur - 680 307, Kerala
Source of Support: None, Conflict of Interest: None
In this case series, we describe four members of a family with the phenotype of superficial variant of granular corneal dystrophy (GCD). The complete description of cases, clinical photographs, anterior segment optical coherence tomography and discussion of treatment outcome have been highlighted. The common symptom for which the patients sought medical attention was blurring of vision. Typical corneal lesions were fluffy, white, too numerous to count, and in the most superficial part of corneal stroma. In all cases, the lesions recurred in spite of the different modes of the initial treatment. The recurrent lesions were also abundant but superficial in location and were managed successfully. Based on anterior segment optical coherence tomography and clinical findings, we thus describe a superficial variant of GCD occuring in three generations of a family with onset before 6 years of age and which recurred even after the best of clearance.
Keywords: Alcohol epitheliectomy, granular corneal dystrophy, phototherapeutic keratectomy, superficial variant
|How to cite this article:|
Jabbar A, Radharamanan B. Superficial variant of granular corneal dystrophy-description of four cases. Kerala J Ophthalmol 2021;33:356-9
| Introduction|| |
Classic granular corneal dystrophy (GCD) was first described by Groenouw in 1988.Its heredity is autosomal dominant, but a sporadic form had also been seen. Sajjadi and Javadi described 17 cases of superficial variant of GCD. This dystrophy differed from classic GCD in the following ways: (1) age of decreased visual acuity (always in the mid to late first decade), (2) earlier need for surgical intervention, (3) superficial location of lesions, and (4) abundance of lesions. Whereas in classic GCD, the disease progresses very slowly and patients will have good vision in the first and second decades, and surgical intervention may not be needed until the fourth or fifth decades of life.
| Description of Cases|| |
A 6-year-old boy was referred for the second opinion regarding management. He had defective vision and glare since few months. Ocular history was unremarkable, and there was no history of consanguinity in the family. There was a history of similar illness in the family which is described in the family tree in [Figure 1]. On ocular examination, his visual acuity (VA) was 20/200 in RE and 20/80 in LE. Slit-lamp examination showed multiple superficial opacities with a geographic pattern in the most superficial part of cornea [Figure 2]. The underlying stroma was clear which was confirmed by Anterior Segment OCT [Figure 3]. Remaining ocular examination was unremarkable. He underwent alcohol epitheliectomy with superficial keratectomy under general anesthesia first in RE followed by LE. He maintained 20/25 VA both eyes till 3-year postoperative. However, after 3 years, he came with recurrence and blurring of vision LE > RE. Since his parents opted for phototherapeutic keratectomy (PTK), he underwent the same first in LE followed by RE [Figure 2]f and [Figure 2]g. After 2 years, he was seen with recurrence [Figure 2]h and [Figure 2]i but was maintaining a corrected VA of 20/32.
|Figure 2: Diffuse slit-lamp photomicrographs of case 1: Recurrence of superficial dystrophy following alcohol epitheliectomy (a-e); clearance centrally following phototherapeutic keratectomy (f and g); recurrence following phototherapeutic keratectomy (h and i)|
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|Figure 3: Anterior Segment (AS) optical coherence tomography of case 1 showing hyper-reflective superf?icial lesions with clear underlying stroma|
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Case 2 was a 40-year-old diabetic male who is the father of case 1. Ocular history revealed defective vision which had started at the first decade. He had undergone penetrating keratoplasty previously and he had gross visual disability at the time of visit. Ocular examination showed graft recurrence LE > RE and VA was 20/160 in RE and 20/500 in LE. He underwent repeat penetrating keratoplasty with intraocular lens (IOL) LE and was maintaining clear graft and VA was 20/40 LE for 4 years. Unfortunately, he had traumatic graft dehiscence with IOL extrusion LE which was managed by graft resuturing and anterior vitrectomy and his VA drastically was reduced to HM. By that time, he was visually handicapped since the graft recurrences in his RE have grossly reduced his vision to CF 1 M [Figure 4]a. PTK was done in May 2018 in his RE and for the past two years, his graft is clear in the centre [Figure 4]b and is enjoying an uncorrected VAof 20/63. PTK was done since the anterior segment OCT RE showed superficial lesions[Figure 5] amenable for the same.
|Figure 4: (a) and clear graft RE following phototherapeutic keratectomy (b). RE: Right eye, LE: Left eye|
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|Figure 5: Anterior segment optical coherence tomography of RE of case 2 showing hyper-reflective line depicting the superficial lesions below epithelium and the clear stroma underneath. RE: Right eye|
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Case 3 was a 35-year-old male, brother of case 2 and paternal uncle of case 1. He came to see us in 2014. He gave a history of bilateral defective vision since early childhood. He had undergone penetrating keratoplasty LE 15 years back. On presentation, his VA in RE was CF 3 M and 20/200 in LE with graft recurrence [Figure 6]a. He wanted PKP in RE (he had undergone PTK multiple times elsewhere). After RE penetrating keratoplasty, he is under regular follow-up and his RE graft is maintaining clarity with uncorrected VA (UCVA) of 20/32 [Figure 6]b.
|Figure 6: Slit-lamp photographs of case 3 showing recurrence in RE (a) and clear graft in LE (b). RE: Right eye, LE: Left eye|
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A 69-year-old homemaker (mother of case 2 and case 3 and paternal grandmother of case 1) was seen in our outpatient department in 2016. She gave a history of blurred vision which had started since very early years of life. She had undergone penetrating keratoplasty with IOL BE 25 years back which was repeated in RE 10 years and in LE 15 years back, respectively. On presentation, her VA was CF 2 M RE and CFCF LE. She had graft recurrence in RE and disorganized anterior segment in LE [Figure 7]a. By the time, she came to us, she was aware of all the modalities of treatments for her eye condition! She wanted to try PTK in RE and after explaining all the risks and making her aware about the recurrences which can happen after the procedure PTK was done in RE. Her visual axis was cleared following PTK [Figure 7]b and she had UCVA 20/15. After 3 years, her vision dropped to 20/80 due to recurrence of lesions [Figure 7]c a second-time PTK was done [Figure 7]d after checking the depth of the lesion in AS OCT [Figure 8] and is having UCVA 20/15 for 1 year.
|Figure 7: Slit-lamp photographs of case 4 showing a failed graft LE (a); graft cleared of recurrence following phototherapeutic keratectomy RE (b); recurrence following phototherapeutic keratectomy in RE (c); clear graft following second phototherapeutic keratectomy (d). RE: Right eye, LE: Left eye|
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|Figure 8: Anterior segment optical coherence tomography of case 4 showing clearly delineated superficial corneal deposits|
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The corneal opacities in classic granular dystrophy have an early onset, but vision is not impaired at this stage of development, and the patient experiences no discomfort. Corneal deposits in classic GCD are mainly located in the axial portion of the cornea and are small, discrete, demarcated grayish-white opacities in the stroma. The clinical features in our patients are similar to those previously described in the superficial variant of GCD. The lesions were fluffy, snowflake: like, white, and always too numerous to count. The course of the disease in this variant is aggressive, with patients becoming symptomatic at an earlier age. Four persons affected with this disorder have been identified in three generations. All the four patients had very early onset of lesions and vision was affected before 5–6 years.
Mashima et al. described a novel R124 L mutation of the BIGH3 gene which was associated in a family with a superficial variant of GCD. This mutation causes a severe form of superficial variant of GCD producing abnormal keratoepithelin between the epithelium and the Bowman's layer, and thus, there are clinical similarities to Reis-Bucklers corneal dystrophy (RBCD). Good surgical results with limited instrumentation from alcohol epitheliectomy, superficial keratectomy, excimer laser PTK make recognition of this variant dystrophy important. These procedures do not require a donor tissue and can be repeated. Although PKP is effective in the management of such eyes, the recurrence of dystrophy in the graft happens.
| Conclusion|| |
This family has a superficial variant of GCD or true RBCD. The term superficial variant of GCD used in this article is based on AS OCT and clinical findings. The ultra-high-resolution OCT provided clear delineation of corneal anatomic features and pathologic corneal deposits in most cases. The characteristics and depth of these deposits are illustrated and can be localized to specific layers of the cornea.
Molecular genetic analysis of affected persons is not done which would have given the information regarding the mutation in the family.
This report is lacking a histopathology report since it was done 4 years before but could not retrieve the slides and report.
The lesions which recurred later were managed by PTK, and so, specimen for histopathology was not available.
None of our patients had recurrent erosions which are seen in RBCD. Granular material that is more anterior will give rise to erosions which is true to RBCD. The affected persons in this family have more clinical similarities to GCD.
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.
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