RESUMO
PURPOSE: The aim of this study was to explore the potential benefits of retinal pigment epithelium replacement therapy in patients with Bietti crystalline dystrophy (BCD) by assessing the disease pathology with the distinctive relationship between fundus autofluorescence (FAF) abnormality and visual field defect. METHODS: Sixteen eyes from 16 patients with BCD and 16 eyes from 16 patients with RHO-associated retinitis pigmentosa were included. Fundus autofluorescence, optical coherence tomography, and Goldmann perimetry results were retrospectively reviewed and assessed using image analyses. RESULTS: In patients with BCD, the FAF abnormality area was not correlated with the overall visual field defect area and median overall visual field defect area (57.5%) was smaller than FAF abnormality area (98.5%). By contrast, the ellipsoid zone width was significantly correlated with the central visual field area (r = 0.806, P < 0.001). In patients with RHO-associated retinitis pigmentosa, the FAF abnormality area and ellipsoid zone width were significantly correlated with the overall visual field defect area (r = 0.833, P < 0.001) and central visual field area (r = 0.887, P < 0.001), respectively. CONCLUSION: The FAF abnormality shown in patients with BCD involves retinal pigment epithelium degeneration without complete loss of photoreceptors or visual function. These results suggest that patients with BCD are good candidates for retinal pigment epithelium replacement therapy for preservation of residual visual function.
Assuntos
Distrofias Hereditárias da Córnea , Angiofluoresceinografia , Fundo de Olho , Epitélio Pigmentado da Retina , Tomografia de Coerência Óptica , Acuidade Visual , Testes de Campo Visual , Campos Visuais , Humanos , Campos Visuais/fisiologia , Feminino , Masculino , Estudos Retrospectivos , Pessoa de Meia-Idade , Tomografia de Coerência Óptica/métodos , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/fisiopatologia , Angiofluoresceinografia/métodos , Adulto , Epitélio Pigmentado da Retina/patologia , Idoso , Acuidade Visual/fisiologia , Doenças Retinianas/diagnóstico , Doenças Retinianas/fisiopatologia , Transtornos da Visão/fisiopatologia , Transtornos da Visão/diagnóstico , Imagem Óptica , Retinose Pigmentar/fisiopatologia , Retinose Pigmentar/diagnóstico , Adulto JovemAssuntos
Topografia da Córnea , Reagentes de Ligações Cruzadas , Ceratocone , Fotoquimioterapia , Fármacos Fotossensibilizantes , Riboflavina , Humanos , Ceratocone/tratamento farmacológico , Ceratocone/diagnóstico , Reagentes de Ligações Cruzadas/uso terapêutico , Fármacos Fotossensibilizantes/uso terapêutico , Riboflavina/uso terapêutico , Fotoquimioterapia/métodos , Colágeno/metabolismo , Substância Própria/metabolismo , Substância Própria/patologia , Substância Própria/efeitos dos fármacos , Raios Ultravioleta , Distrofias Hereditárias da Córnea/diagnóstico , Acuidade Visual/fisiologia , Progressão da Doença , Crosslinking CorneanoRESUMO
A young a presented with painless, progressive diminution of vision in both eyes (BE). Slit lamp examination revealed the presence of a single central corneal opacity in the right eye and multiple corneal opacities of varying sizes in the left eye (LE), limited to the anterior-mid corneal stroma. Microcornea with reduced central corneal thickness and complete inferonasal iris coloboma along with inferior fundal coloboma, sparing both the disc and macula, were noted in BE. A diagnosis of BE macular corneal dystrophy (MCD) and iridofundal coloboma (IFC) was made. The patient underwent LE sutureless anterior lamellar therapeutic keratoplasty. On histopathological examination, the excised corneal tissue revealed stromal lamellar disarray with positive colloidal iron staining, strongly suggestive of MCD. Whole-exome sequencing revealed the presence of a likely pathogenic carbohydrate sulfotransferase 6 (CHST6) mutation, confirming the diagnosis of MCD. This concurrent presence of IFC with a corneal stromal dystrophy is previously unreported in the literature, to the best of our knowledge.
Assuntos
Coloboma , Distrofias Hereditárias da Córnea , Humanos , Coloboma/genética , Coloboma/diagnóstico , Coloboma/complicações , Distrofias Hereditárias da Córnea/genética , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/complicações , Distrofias Hereditárias da Córnea/cirurgia , Masculino , Iris/anormalidades , Iris/patologia , Carboidrato Sulfotransferases , Sulfotransferases/genética , Transplante de Córnea/métodos , Opacidade da Córnea/genética , Opacidade da Córnea/diagnóstico , Opacidade da Córnea/complicações , Córnea/anormalidades , Córnea/patologiaRESUMO
PURPOSE: To present the clinical, genetic, and histopathological features of the ninth family affected by congenital stromal corneal dystrophy (CSCD) to date. METHODS: Twelve cases of a Spanish family affected by CSCD were analyzed regarding history, visual acuity (VA, decimal scale), an ophthalmologic exam and specular microscopy. Five eyes were treated by deep anterior lamellar keratoplasty (DALK), and thirteen eyes by penetrating keratoplasty (PK). In the two last generations, a genetic study was performed. RESULTS: Most of the patients affected were born with opaque corneas except for three, whose corneas were clear at birth. Biomicroscopy showed a whitish diffuse stromal opacity with an unaltered epithelium, causing poor VA (from hand motions to 0.4). Patients treated with PK presented mean postoperative VA of 0.19±0.20 over a follow-up time of 235.3±101.4months with 38% recurrences. Patients who underwent DALK experienced VA improvement to 0.17±0.11 over a follow-up time of 10.8±2.6months without signs of recurrence. In the latter, the big bubble technique was not achieved, so a manual technique was performed. The genetic study showed heterozygosis for a 1-bp deletion at nucleotide 962 in exon 8 of the decorin gene. CONCLUSIONS: CSCD is a rare entity, which should be treated by DALK whenever possible, obtaining better results than PK. Close monitoring of children of affected individuals is important, because CSCD can progress during the early years of life.
Assuntos
Distrofias Hereditárias da Córnea , Transplante de Córnea , Ceratocone , Criança , Recém-Nascido , Humanos , Transplante de Córnea/métodos , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/genética , Distrofias Hereditárias da Córnea/patologia , Ceratoplastia Penetrante , Endotélio Corneano/patologia , Estudos Retrospectivos , Resultado do Tratamento , Ceratocone/cirurgiaRESUMO
PURPOSE: To investigate the impact of scleral lenses (SLs) on higher-order aberrations (HOAs), corrected distance visual acuity (CDVA), and contrast sensitivity (CS) in pellucid marginal degeneration (PMD) eyes. METHODS: SLs were fitted in 24 eyes diagnosed with PMD. CDVA, CS, and HOAs were measured at baseline and with the lens on the eye. The HOAs were measured using an i-Trace aberrometer. RESULTS: A statistically significant improvement was noted in CDVA ( P < 0.001) with BSS lenses (0.05 ± 0.04) compared to baseline (0.42 ± 0.06). Front surface eccentricity 1 (FSE1) lens provided the best CDVA in most of the eyes. The baseline CS of 1.24 ± 0.74 improved to 1.58 ± 0.48 with SL and reported a statistically significant improvement ( P < 0.001) and a gain of 6 letters. The baseline higher order-root mean square (HO-RMS) was 0.89 ± 0.53 µm, which reduced to 0.38 ± 0.24 µm ( P < 0.001), and RMS coma of 0.45 ± 0.29 µm improved to 0.20 ± 0.12 µm ( P < 0.001). Though there was a marginal reduction from 0.04 ± 0.14 to 0.03 ± 0.07, RMS spherical aberration did not show any statistically significant difference ( P = 0.37). RMS secondary astigmatism reduced from 0.17 ± 0.15 µm to 0.08 ± 0.12 µm ( P = 0.007), and RMS trefoil reduced to 0.13 ± 0.09 µm from 0.64 ± 0.36 µm ( P < 0.001) with SLs and showed statistically significant improvement. CONCLUSION: SLs can be considered an effective option that corrects a significant amount of HOAs and enhances visual performances in PMD eyes.
Assuntos
Topografia da Córnea , Aberrações de Frente de Onda da Córnea , Refração Ocular , Esclera , Acuidade Visual , Humanos , Feminino , Acuidade Visual/fisiologia , Masculino , Adulto , Aberrações de Frente de Onda da Córnea/fisiopatologia , Aberrações de Frente de Onda da Córnea/diagnóstico , Pessoa de Meia-Idade , Refração Ocular/fisiologia , Seguimentos , Lentes de Contato , Sensibilidades de Contraste/fisiologia , Adulto Jovem , Distrofias Hereditárias da Córnea/fisiopatologia , Distrofias Hereditárias da Córnea/diagnóstico , Aberrometria , Estudos Prospectivos , Córnea/patologia , Córnea/diagnóstico por imagemRESUMO
PURPOSE: The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This update is the third edition of the IC3D nomenclature. METHODS: Peer-reviewed publications from 2014 to 2023 were evaluated. The new information was used to update the anatomic classification and each of the 22 standardized templates including the level of evidence for being a corneal dystrophy [from category 1 (most evidence) to category 4 (least evidence)]. RESULTS: Epithelial recurrent erosion dystrophies now include epithelial recurrent erosion dystrophy, category 1 ( COL17A1 mutations, chromosome 10). Signs and symptoms are similar to Franceschetti corneal dystrophy, dystrophia Smolandiensis, and dystrophia Helsinglandica, category 4. Lisch epithelial corneal dystrophy, previously reported as X-linked, has been discovered to be autosomal dominant ( MCOLN1 mutations, chromosome 19). Classic lattice corneal dystrophy (LCD) results from TGFBI R124C mutation. The LCD variant group has over 80 dystrophies with non-R124C TGFBI mutations, amyloid deposition, and often similar phenotypes to classic LCD. We propose a new nomenclature for specific LCD pathogenic variants by appending the mutation using 1-letter amino acid abbreviations to LCD. Pre-Descemet corneal dystrophies include category 1, autosomal dominant, punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) ( PRDX3 mutations, chromosome 10). Typically asymptomatic, it can be distinguished phenotypically from pre-Descemet corneal dystrophy, category 4. We include a corneal dystrophy management table. CONCLUSIONS: The IC3D third edition provides a current summary of corneal dystrophy information. The article is available online at https://corneasociety.org/publications/ic3d .
Assuntos
Distrofias Hereditárias da Córnea , Epitélio Corneano/patologia , Humanos , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/genética , Distrofias Hereditárias da Córnea/metabolismo , Mutação , Fator de Crescimento Transformador beta/genética , Fenótipo , Proteínas da Matriz Extracelular/genética , Linhagem , Análise Mutacional de DNARESUMO
PURPOSE: The aim of this study was to report the clinical profile and patterns of recurrence after femtosecond laser-assisted anterior lamellar keratoplasty (FALK) in Reis-Bucklers corneal dystrophy. METHODS: This is a case series of 5 eyes of 4 patients with Reis-Bucklers corneal dystrophy. Clinical images of recurrence were correlated with the high-resolution optical coherence tomography. Histopathologic examination of excised corneal samples was performed when possible. RESULTS: The median time to recurrence was 2 (1-5) years after FALK. Of the 5 eyes, 1 eye had primary FALK, whereas 4 eyes had secondary interventions, which included previous phototherapeutic keratectomy (once in 1 eye and twice in 2 eyes), and previous penetrating keratoplasty, followed by phototherapeutic keratectomy (1 eye). Recurrence was noted at the level of the subepithelium. In addition, 1 eye showed interface deposits along with epithelial downgrowth at the graft-host bed. CONCLUSIONS: The 2 distinct patterns of recurrence noted were at the subepithelial region and the interface. The clinical patterns of recurrence favor an epithelial origin of recurrent deposits.
Assuntos
Distrofias Hereditárias da Córnea , Transplante de Córnea , Humanos , Tomografia de Coerência Óptica , Distrofias Hereditárias da Córnea/diagnóstico , Ceratoplastia Penetrante , Recidiva , Lasers , Transplante de Córnea/métodosRESUMO
PURPOSE: The aim of this study was to analyze corneal topography relative to astigmatism, higher order aberrations, and corneal curvatures in Terrien marginal degeneration using 3-dimensional anterior-segment optical coherence tomography. METHODS: Twenty-nine eyes of 15 Finnish patients from a tertiary referral center had topographic axial power maps classified into 4 patterns by visual grading: crab claw (CC), mixed (M), arcuate (A), and normal. Regular astigmatism, keratometry, higher order aberrations, maximal corneal thinning, apex thickness, and curvature changes relative to best fit sphere toward maximal peripheral thinning were compared. RESULTS: Four, 9, and 12 eyes were classified as CC, M, and A, respectively; 1 as normal with clinical disease; and 3 as normal with unilateral disease. Median follow-up was 2.3 (range, 0-7.2) years. Three eyes changed pattern. Patients with the CC pattern were the youngest when diagnosed, progressed more rapidly, exhibited cavities in superior quadrants with anterior bulging, and had greater higher order posterior aberrations. Patients with the M pattern were older, progressed slower, and showed superonasal asymmetric corneal steepening extending centrally, often with asymmetric bow tie. Patients with pattern A showed little progression and were the oldest when diagnosed, with maximal corneal thinning equally in all quadrants. According to the Wang classification, the median stage was 4, 2, and 2 in CC, M, and A patterns, respectively, whereas it was always 2 by the Süveges classification. CONCLUSIONS: Terrien marginal degeneration is characterized by distinct corneal topographic patterns that differ in tomographic features, suggesting existence of subtypes in addition to different stages of disease. Patients representing CC and M patterns might benefit from more frequent monitoring.
Assuntos
Astigmatismo , Distrofias Hereditárias da Córnea , Humanos , Topografia da Córnea/métodos , Tomografia de Coerência Óptica/métodos , Córnea , Distrofias Hereditárias da Córnea/diagnósticoRESUMO
PURPOSE: To report the genetic etiology of Lisch epithelial corneal dystrophy (LECD). DESIGN: Multicenter cohort study. METHODS: A discovery cohort of 27 individuals with LECD from 17 families, including 7 affected members from the original LECD family, 6 patients from 2 new families and 14 simplex cases, was recruited. A cohort of 6 individuals carrying a pathogenic MCOLN1 (mucolipin 1) variant was reviewed for signs of LECD. Next-generation sequencing or targeted Sanger sequencing were used in all patients to identify pathogenic or likely pathogenic variants and penetrance of variants. RESULTS: Nine rare heterozygous MCOLN1 variants were identified in 23 of 27 affected individuals from 13 families. The truncating nature of 7 variants and functional testing of 1 missense variant indicated that they result in MCOLN1 haploinsufficiency. Importantly, in the homozygous and compound-heterozygous state, 4 of 9 LECD-associated variants cause the rare lysosomal storage disorder mucolipidosis IV (MLIV). Autosomal recessive MLIV is a systemic disease and comprises neurodegeneration as well as corneal opacity of infantile-onset with epithelial autofluorescent lysosomal inclusions. However, the 6 parents of 3 patients with MLIV confirmed to carry pathogenic MCOLN1 variants did not have the LECD phenotype, suggesting MCOLN1 haploinsufficiency may be associated with reduced penetrance and variable expressivity. CONCLUSIONS: MCOLN1 haploinsufficiency is the major cause of LECD. Based on the overlapping clinical features of corneal epithelial cells with autofluorescent inclusions reported in both LECD and MLIV, it is concluded that some carriers of MCOLN1 haploinsufficiency-causing variants present with LECD.
Assuntos
Distrofias Hereditárias da Córnea , Mucolipidoses , Canais de Potencial de Receptor Transitório , Humanos , Canais de Potencial de Receptor Transitório/genética , Estudos de Coortes , Mucolipidoses/diagnóstico , Mucolipidoses/genética , Mucolipidoses/patologia , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/genéticaRESUMO
PURPOSE: To describe four Finnish families with epithelial recurrent erosion dystrophy (ERED) caused by the pathogenic variant c.3156C>T in collagen type XVII alpha 1 chain gene (COL17A1). METHODS: Eleven affected and two unaffected individuals underwent clinical ophthalmological examination, anterior segment photography, and corneal topography. Two of them underwent phototherapeutic keratectomy (PTK). Genetic analysis included both next-generation and Sanger sequencing. Specimens from the manual keratectomy of one patient were available for ophthalmic pathologic examination, including immunohistochemistry. RESULTS: The common splice-site altering synonymous variant c.3156C > T, p.(Gly1052=) in COL17A1 was confirmed in 15 individuals with ERED from the four families. Subepithelial corneal scarring grades varied and increased with age, leading to decreased best-corrected visual acuity. PTK improved vision in 58- and 67-year-old individuals without reactivating the disease. The keratectomy specimens showed an uneven epithelium and a spectrum of basement membrane abnormalities, including breaks, fragmentation, multiplication and entrapment within the subepithelial scar, reflecting recurrent erosions. The stromal cells consisted of varying proportions of bland and activated fibroblasts and myofibroblasts, reflecting different ages of scars. The family with the largest number of known affected generations originated from Southern Sweden. CONCLUSION: The phenotype in the Finnish ERED families is consistent with earlier reports of the c.3156C > T variant, although the severity has varied between reports. The phenotype may be modulated by other genes. This study suggests a likely founder effect of the variant in both Finnish and Swedish populations due to their shared population histories. If vision is compromised, PTK can be considered especially in older patients.
Assuntos
Distrofias Hereditárias da Córnea , Epitélio Corneano , Ceratectomia Fotorrefrativa , Idoso , Humanos , Pessoa de Meia-Idade , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/genética , Distrofias Hereditárias da Córnea/cirurgia , Epitélio Corneano/patologia , Finlândia/epidemiologia , SuéciaRESUMO
PURPOSE: This study aimed to report cases of bilateral corneal Bowman layer deposits in 4 patients with a history of keratorefractive surgery. To our knowledge, this condition has not previously been reported and should be distinguished from granular corneal dystrophy type 2 and other corneal dystrophies. METHODS: We reviewed all available medical records that were collected between January 2010 and December 2021 at a tertiary referral center and performed whole-exome sequencing to provide diagnostic information. RESULTS: Four patients exhibited similar bilateral corneal deposits that were observed more than 10 years after keratorefractive surgery. The patients' ages ranged from 36 to 53 years; 3 of the 4 patients were female. Three patients received laser in situ keratomileusis surgery, and 1 received radial keratotomy. All 4 patients denied having a family history of ocular diseases and reported an uneventful postoperative course. On examination, the best-corrected visual acuity ranged from 6/10 to 6/6 in all 4 patients. Slit-lamp examination revealed bilateral superficial corneal deposits involving the central cornea, and anterior segment optical coherence tomography revealed hyperreflective deposits located in the Bowman layer. Such unique manifestations suggested corneal dystrophy; thus, whole-exome sequencing was performed on all 4 patients. Only 1 patient exhibited a missense mutation in TGFBI . We further analyzed common de novo mutations to explore possible candidate genes associated with this presentation. CONCLUSIONS: We report a rare entity of presumed corneal dystrophy with deposits located in the Bowman layer in 4 patients who had received keratorefractive surgery. Clarifying the underlying pathophysiology and genetic predisposition of this disease may aid in diagnosing and preventing potential complications after keratorefractive surgery.
Assuntos
Distrofias Hereditárias da Córnea , Opacidade da Córnea , Ceratomileuse Assistida por Excimer Laser In Situ , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Masculino , Córnea/cirurgia , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/genética , Distrofias Hereditárias da Córnea/cirurgia , Ceratoplastia Penetrante , Opacidade da Córnea/cirurgiaRESUMO
PURPOSE: We report a case of unilateral Terrien's marginal degeneration in a 14-year-old girl. CLINICAL CASE: Slit-lamp examination of the affected eye revealed 360° circumferential lipid deposits with 6mm of superior limbal distension, superficial neovascularization, a zone of corneal thinning from 3:00 to 9:00 with a zone of corneomalacia at 11:00. The remainder of the cornea was clear, without fluorescein staining or anterior chamber reaction. DISCUSSION: Terrien's marginal degeneration (TMD) is typically known to occur bilaterally in men over the age of 40. Terrien's degeneration must be differentiated from other causes of peripheral corneal thinning; the primary differential diagnosis is Fuchs' marginal keratitis. Other causes of corneal thinning must be ruled out, including Mooren's ulcer. In Terrien's degeneration, there is no central mined edge in the thinning sulcus, the epithelium remains intact, and affected patients do not present with pain. Other differential diagnoses include pellucid marginal degeneration and sulcus degeneration, which are characterized by the absence of lipid infiltrates associated with the central region of the thinning zone, thus distinguishing them from TMD. CONCLUSION: It is important to keep in mind that Terrien's marginal degeneration can occur in children.
Assuntos
Doenças da Córnea , Distrofias Hereditárias da Córnea , Úlcera da Córnea , Masculino , Feminino , Humanos , Criança , Adolescente , Dilatação Patológica/diagnóstico , Dilatação Patológica/complicações , Doenças da Córnea/diagnóstico , Doenças da Córnea/complicações , Córnea , Distrofias Hereditárias da Córnea/diagnóstico , Úlcera da Córnea/complicações , LipídeosRESUMO
Corneal dystrophies are hereditary diseases affecting the corneal tissue; they are bilateral, symmetrical and unrelated to environmental or systemic conditions. Congenital corneal stromal dystrophy is a very rare autosomal dominant dystrophy that is caused by a mutation in the DCN gene that encodes decorin (a proteoglycan of the extracellular matrix). We herein report 4 cases of congenital stromal corneal dystrophy in 2 families, highlighting the previously undescribed histopathologic features, the possible differential diagnosis of this entity and the key role played by decorin staining in its diagnosis.
Assuntos
Distrofias Hereditárias da Córnea , Humanos , Decorina/genética , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/genética , Distrofias Hereditárias da Córnea/patologia , Mutação , Matriz Extracelular/patologiaRESUMO
PURPOSE: To investigate the gene mutations and relationship of clinical manifestation in a Chinese family with familial lattice corneal dystrophy (LCD). DESIGN: Single-family case-control study. METHODS: A family with familial LCD was recruited for this study. A total of 10 affected and 13 healthy family members participated in this research. Clinical features were examined by slit-lamp examination and anterior segment optical coherence tomography (AS-OCT). Peripheral blood samples were collected from each participant, and genomic DNA was extracted. Whole-exome sequencing (WES) analysis was performed, and the pathogenic variants of LCD were identified using bioinformatics tools and confirmed by Sanger sequencing. RESULTS: Slit-lamp examination revealed diffuse grayish-white punctate, linear, and "lattice-like" opacities in the corneal epithelium and superficial corneal stroma. AS-OCT revealed an irregularly shaped cornea. The corneal epithelium and anterior corneal stroma showed high-reflective deposits and bulges. The clinical appearance of the patients fit the pattern and features of autosomal dominant inheritance of LCD type I (LCD I). A novel pathogenic variant of exon 12 in TGFBI was found by WES analysis, in which cytosine at position 1613 was substituted by adenine (c.1613C>A), and the amino acid was changed from threonine to lysine (p.T538K). Mutated genes and proteins were predicted to be deleterious. CONCLUSION: A novel heterozygous pathogenic variant (c.1613C>A) of TGFBI was identified in the Chinese family with LCD I.
Assuntos
Distrofias Hereditárias da Córnea , População do Leste Asiático , Humanos , Estudos de Casos e Controles , Córnea/patologia , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/genética , Análise Mutacional de DNA , Proteínas da Matriz Extracelular/genética , Mutação , Linhagem , Fator de Crescimento Transformador beta/genéticaRESUMO
Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant corneal stromal dystrophy that is caused by p.Arg124His mutation of transforming growth factor ß 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.
Assuntos
Distrofias Hereditárias da Córnea , Opacidade da Córnea , Úlcera da Córnea , Ceratomileuse Assistida por Excimer Laser In Situ , Ceratectomia Fotorrefrativa , Humanos , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/genética , Distrofias Hereditárias da Córnea/terapia , Córnea/patologia , Ceratectomia Fotorrefrativa/métodos , Ceratomileuse Assistida por Excimer Laser In Situ/efeitos adversos , Opacidade da Córnea/diagnóstico , Opacidade da Córnea/etiologia , Opacidade da Córnea/terapia , Úlcera da Córnea/cirurgia , Fator de Crescimento Transformador beta/genéticaRESUMO
Purpose: Pre-Descemet corneal dystrophy (PDCD) with X-linked ichthyosis (XLI) is associated with mutations in or deletions of the steroid sulfatase gene (STS). As only three cases of genetically confirmed PDCD associated with XLI have been reported, we sought to expand our understanding of the genetic basis of PDCD by screening STS in two previously unreported families. Materials and Methods: The affected individuals underwent cutaneous and slit-lamp examinations. Saliva samples collected from each affected individual served as a source of DNA for the amplification of the 10 coding exons of STS and flanking DNA markers. Results: The slit-lamp examination of three affected men (two of whom were brothers) from two families revealed bilateral punctate posterior corneal stromal opacities anterior to the Descemet membrane. Cutaneous examination demonstrated dry, coarse, scaly ichthyotic changes characteristic of XLI in all individuals. Genetic examination of the STS locus on the X chromosome in Case 1 revealed a deletion that spanned across DNA markers DXS1130-DXS237, which includes all the coding exons (exons 1-10) of STS. Genetic screening of Cases 2 and 3 revealed a partial deletion of the STS locus involving exons 1-7 and flanking DNA marker DXS1130 on the X chromosome. Conclusions: PDCD with XLI may be associated with either partial or complete deletion of STS. Despite the identification of point mutations, partial deletion, and complete deletion of STS in different affected families reported to date, there was no apparent difference in the affected phenotype between the families, suggesting that the identified variants likely all resulted in loss of function of steroid sulfatase.