A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation

Yellore, Vivek S.; Sönmez, Barış; Rayner, Sylvia A.; Aldave, Anthony J.

doi:10.1136/bjo.2007.120352

Cited by 3 publications

(2 citation statements)

References 9 publications

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“…To date, only lattice corneal dystrophy has been reported with unilateral presentation. [2][3][4][5][6][7][8] In many of these reports, questions remain as to whether the reported unilateral presentations of lattice corneal dystrophy represent truly unilateral disease manifestations or whether they have simply been asymmetric presentations of bilateral disease. In some cases, a presumed unilateral manifestation was confirmed to be bilateral either with longer follow-up or with more detailed analysis beyond clinical examination, including in vivo confocal microscopy.…”

Section: Discussionmentioning

confidence: 99%

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Unilateral Granular Type 2 Corneal Dystrophy With Exacerbation After LASIK

Bostan,

Randleman

2024

Cornea

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Purpose: The aim of this study was to report a case of unilateral granular corneal dystrophy type 2 (GCD2) with exacerbation after bilateral laser in situ keratomileusis (LASIK). Methods: Clinical evaluation, Scheimpflug imaging, anterior segment optical coherence tomography (AS-OCT), cytology, and genetic testing were used to confirm the diagnosis of unilateral GCD2 with exacerbation after bilateral LASIK. Detailed literature review for possible unilateral GCD2 presentations was performed. Results: A 54-year-old White woman presented with blurred vision in her left eye and a history of bilateral LASIK performed 8 years before. Examination revealed dense opacities in the left cornea only, which were confirmed to be confined to the LASIK interface and adjacent corneal stromal tissue, as determined by AS-OCT. The patient underwent flap lift, interface debris removal, and stromal bed phototherapeutic keratectomy. Cytological analysis showed eosinophilic corneal stromal deposits that stained with trichrome stain and were congophilic on Congo red stain. Genetic testing was positive for heterozygous GCD2 transforming growth factor β–induced gene (TGFBI), c.371G>A, p.R124H mutation. There were no opacities identifiable in the right eye on serial slit-lamp examination, Scheimpflug imaging, or OCT imaging at 4 or 8 years after bilateral LASIK. Literature review failed to identify any previous reports of unilateral GCD2. Conclusions: This is the first known reported case of unilateral granular corneal dystrophy type 2. LASIK is contraindicated in eyes with corneal stromal dystrophies related to mutations in TGFBI as both flap creation and laser ablation can exacerbate visually significant opacity formation. Scheimpflug and AS-OCT imaging are useful to identify opacities in GCD2.

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Section: Discussionmentioning

confidence: 99%

“…1 These dystrophies almost exclusively present bilaterally, although unilateral or asymmetric presentations of lattice corneal dystrophy have been reported. [2][3][4][5][6][7][8] To date, there have been no reports of unilateral presentation of GCD2.…”

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confidence: 99%