1.A Case of Lattice Corneal Dystrophy Type 1 Initially Showing Phenotypic Characteristics of Granular Corneal Dystrophy Type 2 in One Eye and Dot and Map Lesions in the Contralateral Eye
Moonjung CHOI ; Ji Sang MIN ; Eung Kweon KIM
Annals of Optometry and Contact Lens 2025;24(1):34-38
Purpose:
Lattice corneal dystrophy type 1 (LCD1) typically presents with linear lesions in the corneal stroma. We report an atypical case of a patient with LCD type 1, who exhibited granules and deep lines resembling granular corneal dystrophy type 2 (GCD2) in one eye and maps and dots resembling epithelial basement membrane dystrophy (EBMD) in the contralateral eye.Case summary: A 22-year-old woman presented with progressive visual disturbances. Slit lamp examination revealed subepithelial granular opacities and linear lines in one eye and maps and dots in the other eye. Peripheral blood was collected, and genomic sequencing of transforming growth factor β-induced protein (TGFBI) was performed to identify any mutations. The sequencing revealed a heterozygous Arg124Cys (R124C) mutation, which is diagnostic for LCD1. Serial examinations over the years indicated a spontaneous reduction in the granular deposits and an increase in the lattice component, illustrating the progression of the phenotypic traits associated with LCD.
Conclusions
Although the R124C mutation of TGFBI is known to be associated with LCD1, it can manifest clinical characteristics similar to GCD2 or EBMD in the early stages of the disease. Genetic testing is recommended for definitive diagnosis in cases of TGFBI-related corneal dystrophies.
2.Temporary Conjunctival Flap for the Treatment of Infectious Corneal Ulcer
Moonjung CHOI ; Ji Sang MIN ; Eung Kweon KIM
Annals of Optometry and Contact Lens 2024;23(2):71-75
Purpose:
To report two cases of successful management of infectious corneal ulcer with temporary conjunctival flap.Case summary: Two patients with acute necrotic corneal ulcer with impending perforation were treated with conjunctival flap surgery, which was subsequently removed within 2 weeks. The inflammation subsided, the ulcer healed with mild to moderate corneal opacity, and the patients achieved improved visual acuity.
Conclusions
Temporary conjunctival flap can prevent corneal perforation and aid in accelerating wound healing in infectious corneal ulcer and may be an effective therapeutic alternative.
3.Morphological Characteristics of Granular Corneal Dystrophy Type 1 in the Korean Population
Ji Yoon LEE ; Ji Sang MIN ; Jin Seok CHOI ; Eung Kweon KIM
Journal of the Korean Ophthalmological Society 2024;65(3):173-180
Purpose:
Granular corneal dystrophy type 1 (GCD1) is a genetic disorder characterized by grayish-white granular deposits in the corneal stroma, typically manifesting before age 10. The specific characteristics of GCD1 in the Korea population remain insufficiently described. This study investigated the morphological features of GCD1 corneas with confirmed genetic mutations in this population.
Methods:
Medical records of GCD1 patients with the R555W mutation confirmed through transforming growth factor β induced (TGFBI) gene testing on oral epithelium or blood samples from 2005-2022, were analyzed. Corneal photographs obtained using a slit lamp biomicroscope were also examined.
Results:
The study group included 11 males and 19 females with an average age of 35.7 years, ranging from 3-70 years. All participants were heterozygotes. In 28 individuals (56 eyes, representing 93.3% of the total), there were signs of corneal deposit detachments, known as “drop-off”, observed in patients aged 6 years and above. Surface deposits reemerged at the peripheral margin of previous locations and expanded toward the center. The number and shape of opacities significantly changed with age, showing cycles of deposition and shedding. There were variations in the severity of opacities within the same family, particularly with advancing age, and distinct opacities extending into deeper stromal layers.
Conclusions
This study outlines the morphological characteristics of corneas in Korean GCD1 patients, based on corneal photograph analysis. These findings provide a basis for future comparative studies with GCD2 and may aid rapid clinical diagnosis based on clinical findings, prior to genetic testing confirmation.
4.Visual Function after Multifocal Intraocular Lens Insertion in a Heterozygous Granular Corneal Dystrophy Type 2 Patient: Case Report
Ji Hyung SUH ; Tae Hwan KIM ; Jin Seok CHOI ; Ikhyun JUN ; Sang Il CHO ; Eung Kweon KIM
Journal of the Korean Ophthalmological Society 2023;64(6):538-544
Purpose:
A patient with heterozygous granular corneal dystrophy type 2 (GCD2) underwent phacoemulsification with multifocal intraocular lens insertion, and complained of visual discomfort. We investigated the cause of the discomfort and visual function in this case.Case summary: A 59-year-old woman with granular opacity had slit lamp photographs taken 5 years earlier. Two years later, she underwent phacoemulsification with multifocal intraocular lens (Trifocal AT Lisa tri toric 839MP®, Carl Zeiss Meditec AG, Inc., Jena, Germany) insertion in both eyes at a local clinic. She felt very uncomfortable after the surgery, but the granular and lattice opacities due to GCD2 of her corneas remained stationary for 5 years. Her visual acuity decreased from preoperatively (preoperative: right 0.5, left 0.6; last visit: right 0.3, left 0.4). Her contrast sensitivity was also decreased and the total higher order aberration was increased (right 1.590 μm, left 1.194 μm), compared to normal range.
Conclusions
Multifocal intraocular lens insertion in cataract surgery can lead to severe declines in contrast sensitivity and visual acuity and increased higher-order aberration in a GCD2 patient. It may not be advisable to use multifocal intraocular lenses in a GCD2 patient.
5.Efficacy of Biometry Using Swept-source Optical Coherence Tomography for Posterior Chamber Phakic Intraocular Lens Implantation
Min Soo JO ; Ja Yoon MOON ; Sung Kun CHUNG ; Eung Kweon KIM ; Kyu Hong PARK ; Jin Seok CHOI
Journal of the Korean Ophthalmological Society 2023;64(5):374-381
Purpose:
The proper implantable collamer lens (ICL) size affects ICL stability. This study compared device efficacy using white-to-white diameter (WTW) measurements with Orbscan II and IOL Master 700.
Methods:
We retrospectively studied 90 eyes (45 patients) who underwent toric ICL implantation from January 2019 to February 2020 and were followed for 1 year. The correlation between WTW and anterior chamber depth (ACD) for each measuring device was analyzed.
Results:
The mean WTW measured by IOL Master 700 and Orbscan II was 12.2 ± 0.3 and 11.6 ± 0.3 mm, respectively, while the mean ACD was 3.28 ± 0.16 and 3.20 ± 0.15 mm. The WTW and ACD measured with IOL Master 700 averaged 0.57 ± 0.12 and 0.08 ± 0.04 mm larger than with Orbscan II. The differences were significant and the regression analysis had high correlations (R2 = 0.875 and R2 = 0.913, respectively; both p < 0.001).
Conclusions
WTW measured by the IOL Master 700 can be used as a reference either alone or together with the Orbscan II value to determine ICL size.
6.Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2
Myung Soo CHANG ; Ikhyun JUN ; Eung Kweon KIM
Korean Journal of Ophthalmology 2023;37(4):340-347
Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant corneal stromal dystrophy that is caused by p.Arg124His mutation of transforming growth factor β induced (TGFBI) gene. It is characterized by well demarcated granular shaped opacities in central anterior stroma and as the disease progresses, extrusion of the deposits results in ocular pain due to corneal epithelial erosion. Also, diffuse corneal haze which appears late, causes decrease in visual acuity. The prevalence of GCD2 is high in East Asia including Korea. Homozygous patients show a severe phenotype from an early age, and the heterozygote phenotype varies among patients, depending on several types of compound heterozygous TGFBI mutations. In the initial stage, conservative treatments such as artificial tears, antibiotic eye drops, and bandage contact lenses are used to treat corneal erosion. Different surgical methods are used depending on the depth and extent of the stromal deposits. Phototherapeutic keratectomy removes anterior opacities and is advantageous in terms of its applicability and repeatability. For deeper lesions, deep anterior lamellar keratoplasty can be used as the endothelial layer is not always affected. Recurrence following these treatments are reported within a wide range of rates in different studies due to varying definition of recurrence and follow-up period. In patients who have undergone corneal laser vision-correction surgeries such as photorefractive keratectomy, LASEK, or LASIK including SMILE surgery, corneal opacity exacerbates rapidly with severe deterioration of visual acuity. Further investigations on new treatments of GCD2 are necessary.
7.Clinical Results of Cataract Surgery Using the ARTIS ® PL E Intraocular Lens
Ella Seo Yeon PARK ; Byung Hoon CHUNG ; Ikhyun JUN ; Tae-im KIM ; Kyoung Yul SEO ; Eung Kweon KIM
Journal of the Korean Ophthalmological Society 2022;63(2):134-141
Purpose:
To compare the clinical outcomes of cataract surgery using the ARTIS ® PL E (Cristalens Industrie, Lannion, France) intraocular lens (IOL) and conventional Tecnis ® ZCB00 (Johnson & Johnson Vision, Santa Ana, CA, USA) IOL.
Methods:
This retrospective study examined patients who underwent in-the-bag implantation of either an ARTIS ® PL E (33 eyes, group A) or Tecnis ® ZCB00 (45 eyes, group B) IOL after phacoemulsification performed by a single surgeon. Best-corrected visual acuity (BCVA), spherical equivalent, and higher-order aberrations (HOA) were measured 1 and 3 months after cataract surgery.
Results:
Preoperative BCVA did not differ significantly in groups A and B. Postoperative BCVA at 1 and 3 months improved significantly (p < 0.001) in both groups compared to preoperative baseline BCVA. At 1 and 3 months postoperatively, total HOA, spherical aberration, and coma were significantly lower compared to the preoperative baseline HOA (p < 0.05) in both groups. However, there were no significant differences in the trefoil values 1 and 3 months postoperatively compared to the preoperative baseline in both groups. The absolute refractive error 3 months postoperatively was 0.27 ± 0.20 (group A) and 0.28 ± 0.20 (group B), both within ± 0.50 diopters of the targeted goal diopter; there were no significant differences in the accuracy or predictability of the IOL power calculation in both groups (p = 0.390, p = 0.959). The absolute refractive error 1 and 3 months postoperatively did not differ significantly; there were no significant differences in the stability of both IOLs (p = 0.482, p = 0.372).
Conclusions
Conventional cataract surgery using the ARTIS ® PL E IOL significantly increased the BCVA, while obtaining comparable clinical results to the verified Tecnis ® ZCB00 IOL in postoperative visual acuity and HOA.
8.Contrast Sensitivity Changes after Phototherapeutic Keratectomy in Heterozygote Granular Corneal Dystrophy Type 2
Ji Hyung SUH ; Tae Hwan KIM ; Hee Young KIM ; Jin Seok CHOI ; Ja Yoon MOON ; Ji Seon AN ; Eung Kweon KIM
Journal of the Korean Ophthalmological Society 2022;63(6):510-518
Purpose:
Contrast sensitivity, the ability to distinguish the relative difference in luminance of an object from its surrounding or adjacent objects, is a useful measure of visual function. In granular corneal dystrophy type 2 (GCD2), opacity of the corneal stroma causes deterioration in visual function. We compared the contrast sensitivity of GCD2 patients before and after phototherapeutic keratectomy (PTK) to evaluate the perioperative visual function in these patients.
Methods:
This study included 22 eyes of heterozygote GCD2 patients. The visual acuity and contrast sensitivity were measured before and after PTK. The contrast sensitivity was measured in mesopic and photopic background luminances, with glare (G) levels of 0-2 (G0, G1, and G2, respectively) and spatial frequencies at 1.5, 3, 6, 12, and 18 cycles per degree (cpd).
Results:
The contrast sensitivity increased after PTK at 1.5 and 3 cpd in mesopic and photopic conditions with G0-2 glare (p < 0.05). At 6 cpd, the contrast sensitivity increased in the mesopic condition with G1 glare, and in the photopic condition with G0-2 glare (p < 0.05). However, there was no change in contrast sensitivity at any glare level at 12 and 18 cpd after PTK.
Conclusions
In GCD2 patients, the contrast sensitivity increased significantly after PTK. The vision of GCD2 patients, which is decreased due to corneal opacity, is improved after PTK.
9.Anterior Ocular Biometrics Using Placido-scanning-slit System, Rotating Scheimpflug Tomography, and Swept-source Optical Coherence Tomography
Soyoung RYU ; Sook Hyun YOON ; Ikhyun JUN ; Kyoung Yul SEO ; Eung Kweon KIM ; Tae-im KIM
Korean Journal of Ophthalmology 2022;36(3):264-273
Purpose:
To compare anterior biometry measurements using placido-scanning-slit topography, rotating Scheimpflug tomography, and swept-source optical coherence tomography.
Methods:
A retrospective review consisted of 80 eyes of 49 participants who underwent anterior chamber depth (ACD), central corneal thickness (CCT), and keratometry examination on the same day. We used placido-scanning-slit topography (ORBscan II), rotating Scheimpflug tomography (Pentacam HR), and swept-source optical coherence tomography (CASIA SS1000). The intraclass correlation coefficients and Bland-Altman plots were used to evaluate the agreement and differences between measurements.
Results:
The mean ACD values were 2.88 ± 0.43, 2.82 ± 0.50, and 2.68 ± 0.44 mm; and the mean CCT values were 536.96 ± 31.19, 543.79 ± 31.04, and 561.41 ± 32.60 μm; and the mean keratometry (Km) were 43.81 ± 1.69, 43.81 ± 1.77, and 44.65 ± 1.95 diopters; as measured by CASIA SS-1000, Pentacam HR, and ORBscan II, respectively. Among the three devices, ACD was deepest to shallowest in the order of CASIA SS-1000, Pentacam HR, and ORBscan II (p < 0.05). The CCT was thickest to thinnest in the order of ORBscan II, Pentacam HR, and CASIA SS-1000 (p < 0.05). No significant differences in Km values were examined between CASIA SS-1000 and Pentacam HR, whereas ORBscan II overestimated Km with a statistically significant difference compared to the other two devices.
Conclusions
High level of agreement was found between CASIA SS-1000 and Pentacam HR for anterior parameters, including ACD, CCT, and Km, suggesting interchangeability. However, ORBscan II measurements differed considerably with the measurements obtained from the other two devices; therefore, it should not be used interchangeably. However, further studies with repeatability test should be considered in order to elucidate the reliability of each device.
10.Phenotypes of Granular Corneal Dystrophy Type 2 among Koreans in Their Twenties
Ji Hyung SUH ; Ik Hee RYU ; Jin Pyo HONG ; Ja Yoon MOON ; Jin Seok CHOI ; Ikhyun JUN ; Tae-Im KIM ; Eung Kweon KIM
Journal of the Korean Ophthalmological Society 2022;63(12):965-972
Purpose:
Granular corneal dystrophy type 2 (GCD2) is a hereditary disease that features granular and lattice stromal deposits in the cornea. There are homozygotes and heterozygotes and the opacities are exacerbated by corneal trauma or surgery, such as laser in situ keratomileusis (LASIK). As there is individual variability in GCD2 phenotypes, we investigated various corneal features of GCD2 patients in their twenties, the main age group for refractive surgery.
Methods:
From genetically confirmed GCD2 patients who had an R124H mutation of the transforming growth factor β induced (TGFBI) gene at age 20 to 29 years, we chose representative patients: one homozygote; one compound heterozygote; one simple heterozygote with a severe phenotype with many granular deposits; one common heterozygote; and four heterozygotes with normal corneas. The corneas of all patients were subject to slit-lamp examination and photographed.
Results:
The homozygote had confluent granular deposits covering the cornea. The compound heterozygote had granular and lattice deposits covering the center of the cornea. The patient with a severe phenotype had more than 30 granular deposits in one eye, but was a simple GCD2 heterozygote, verified by full-sequencing of the TGFBI gene. In the four patients with normal corneas, a single small lesion was subsequently detected during follow-up in two, at 3 weeks and 6 months, respectively. Both corneas were judged clear at chance examinations.
Conclusions
Among Koreans in their twenties, GCD2 patients have various phenotypes, from clear corneas to severe confluent opacities. There are GCD2 heterozygotes with nearly clear corneas, so caution must be taken when choosing patients for refractive surgery.

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