Recurrence of corneal dystrophy resulting from an R124H Big-h3 mutation after phototherapeutic keratectomy

PURPOSE: The purpose of the study was to investigate the recurrence-free interval after phototherapeutic keratectomy (PTK) in patients with corneal dystrophies resulting from an Arg124His (R124H) mutation of the Big-h3 gene. METHODS: Patients with corneal dystrophy resulting from a genetically confirmed Big-h3 R124H mutation were examined with a slit lamp. The patients were divided into two groups on the basis of the mutation genotype, and the recurrence-free interval was analyzed. RESULTS: In the 4 eyes of 3 homozygous patients, the mean (+/- standard deviation [SD]) recurrence-free interval was 9.5 +/- 3.1 months, whereas in the 7 eyes of 4 heterozygous patients it was 38.4 +/- 6.2 months. The former interval was statistically shorter than the latter (Kaplan-Meier survival analysis with log-rank test, p = 0.004). CONCLUSIONS: These results strongly suggest that the mutation genotype of Big-h3 gene determined the recurrence-free interval as well as the clinical picture after PTK. Therefore, PTK should be considered for patients with Big-h3 R124H corneal dystrophy, on the basis of the expected recurrence-free interval deduced from molecular analysis of the zygosity of the Big-h3 R124H mutation.     

Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees

Purpose: Genetic analysis and phenotypic features of Avellino corneal dystrophy patients from Japan and some European countries have been published. We report for the first time the genetic analysis and phenotypic features of two Avellino corneal dystrophy pedigrees from the Middle East. Methods: Slit‐lamp biomicroscope photographs of cornea were obtained, and corneal tissue sections were stained with masson‐trichrome and Congo red. DNA was isolated from peripheral blood leucocytes and exons 4 and 12 of TGFBI were screened for mutations by direct sequencing. Results: The probands of the pedigrees had phenotypic features consistent with diagnosis of Avellino corneal dystrophy. They were homozygous for the same R124H mutation in TGFBI as previously reported in Avellino patients from Japan and European countries. Heterozygous carriers of the mutation were identified in the pedigree and shown to have symptoms of disease milder than those of the probands. Conclusion: The finding of R124H in the Middle Eastern (Iranian) population supports the proposal that perhaps only substitution of histidine for arginine at position 124 of tumour growth factor beta induced protein results in the Avellino corneal dystrophy phenotype. As both probands were originally diagnosed with granular corneal dystrophy, and as heterozygous carriers of R124H were unaware of their disease status prior to genetic analysis, the importance of genetic analysis is emphasized.     

Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies

PURPOSE: To investigate mutations of the human transforming growth factor beta-induced gene (TGFBI), transforming growth factor-beta-induced gene product (betaig-h3, keratoepithelin), in Japanese patients with Avellino corneal dystrophy (ACD), lattice corneal dystrophy (LCD), granular corneal dystrophy (GCD), and Reis-Bücklers corneal dystrophy (RBCD). METHODS: Genomic DNA was extracted from the peripheral blood of 75 patients and 7 unaffected relatives from 60 families with ACD, 34 patients and 8 unaffected relatives from 21 families with LCD, 4 patients and 4 unaffected relatives from 4 families with GCD, and 4 patients and an unaffected relative from 3 families with RBCD. Fifty normal volunteers served as controls. Exons 4, 11, and 12 of the TGFBI gene were amplified by polymerase chain reaction and were directly sequenced. RESULTS: Six different heterozygous missense mutations were detected in codons R124, L518, L527, and R555 of the TGFBI gene in the 117 patients from 88 families. A R124H mutation was detected in the patients with ACD. A R124C mutation was detected in the patients with LCD type 1 (LCD1), L518P was in atypical LCDI, and L527R in LCD with opacities deep in stroma. A R555W mutation was detected in the patients with GCD. A R555Q mutation was detected in the patients with RBCD. CONCLUSIONS: We conclude that codons R124 and R555 of the TGFBI gene are also hot spots in Japanese patients with ACD, LCD, GCD, and RBCD. Many Japanese patients with CD had ACD with R124H mutation. GCD with R555W mutation was rare.     

Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene

AIM: To report a Japanese family diagnosed clinically as having lattice corneal dystrophy type I (LCDI) in which a Leu518Pro mutation in the betaig-h3 gene and not the R124C mutation reported previously was found. METHODS: Molecular genetic analysis was performed on DNA extracted from peripheral leucocytes from four members (three affected and one unaffected) of a family. Exon 4 of the betaig-h3 gene was amplified by PCR and directly sequenced. Histopathological study was performed on the corneal tissue from the proband obtained during deep lamellar keratoplasty. RESULTS: All the affected members were clinically diagnosed as having LCDI, and the pedigree indicated an autosomal dominant inheritance. A heterozygous single base pair transition (CTG to CCG, leucine to proline) was detected in codon 518 of the betaig-h3 gene in the three affected members, and not in the unaffected member. No mutation was found in codon 124. Amyloid deposits were observed between the collagen bundles of the corneal stroma and were seen to extend deep into the stroma. CONCLUSION: The Leu518Pro mutated betaig-h3 forms amyloidogeneic intermediates which precipitate in the cornea and gives rise to a clinical appearance of LCDI.     

Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients

AIM: To uncover the mutations profile of transforming growth factor beta-induced (TGFBI) gene in Chinese corneal dystrophy patients and further investigate the characteristics of genotype-phenotype correlations. METHODS: Forty-two subjects (6 unrelated families including 15 patients and 8 unaffected members, and 19 sporadic patients) of Chinese origin were subjected to phenotypic and genotypic characterization. The corneal phenotypes of patients were documented by slit lamp photography. Mutation screening of the coding regions of TGFBI was performed by direct sequencing. RESULTS: We detected four corneal dystrophy types. The most frequent phenotypes were granular corneal dystrophy (GCD) (including 3 families and 8 sporadic patients) and lattice corneal dystrophy (LCD) (including 2 families and 9 sporadic patients). The next phenotypes were corneal dystrophy of Bowman layer (CDB) (1 family and 1 sporadic patient) and epithelial basement membrane dystrophy (EBMD) (1 sporadic patient). Six distinct mutations responsible for TGFBI corneal dystrophies were identified in 30 individuals with corneal dystrophies. Those were, p.R124H mutation in 1 family and 2 sporadic patients with GCD, p.R555W mutation in 2 families and 3 sporadic patients with GCD, p.R124C mutation in 2 families and 7 sporadic patients with LCD, p.A620D mutation in 1 sporadic patient with LCD, p.H626R mutation in 1 sporadic patient with LCD, and p.R555Q in 1 family and 1 sporadic patient with CDB. No mutation was detected in the remaining 3 atypical GCD patients and 1 EBMD patient. CONCLUSION: GCD and LCD are the most frequent phenotypes in Chinese population. R555W was the most common mutation for GCD; R124C was the most common mutation for LCD. Our findings extend the mutational spectrum of TFGBI, and this is the extensively delineated TGFBI mutation profile associated with the various corneal dystrophies in the Chinese population.     

格子状角膜营养不良患者BIGH3基因突变的研究

目的探讨中国格子状角膜营养不良(LCD)患者基因突变类型。方法对2002年7至11月来我院就诊的8例不伴有全身淀粉样物质沉积的LCD患者,自静脉血提取全血白细胞DNA,应用聚合酶链反应(PCR)技术,扩增BIGH3基因目的片段,并对其进行DNA直接测序;同时行裂隙灯显微镜检查并照裂隙灯显微镜外眼像。收集32名正常人静脉血样进行同样检测,作为对照。结果3例检出BIGH3基因第4外显子的R124C突变(417位点碱基C→T),呈杂合子,临床表现为典型的LCDI型;另外5例检出第14外显子的H626R突变(1924位点碱基A→G),亦为杂合子,该型临床表现介于LCDⅠ型与LCDⅢ或ⅢA型之间,为一中间类型。结论中国LCD患者中既存在引起LCDⅠ型的R124C突变,也存在H626R突变。因此,H626R突变并非是英国和法国特有的类型,也可为亚洲患者的一种基因突变类型。     

Chronic clinical course of two patients with severe corneal dystrophy caused by homozygous R124H mutations in the betaig-h3 gene

PURPOSE: To report the chronic clinical course of two patients with homozygous R124H mutations in the betaig-h3 gene.METHODS: Case reports. RESULTS: Two patients with homozygous R124H mutations in the betaig-h3 gene developed severe juvenile corneal opacities that required keratoplasty. After surgery, corneal opacities recurred and limited the recovery of visual acuity in the chronic follow-up. CONCLUSION: In patients with homozygous R124H mutations in the betaig-h3 gene, recurrence of corneal opacities after keratoplasty limits the recovery of visual acuity in the chronic follow-up.     

BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy.

PURPOSE: Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant corneal dystrophies. We sought to determine whether the BIGH3 gene mutation was responsible for corneal dystrophy in Korean patients. METHODS: Polymerase chain reaction single strand conformational polymorphism (PCR-SSCP) analysis was performed with the DNA from patients and healthy individuals. We sequenced the PCR products with the aberrant SSCP pattern to identify the mutation. Mutant-specific reverse primers were used to screen genomic DNA for the identified mutations. RESULTS: We identified mutations R124C in the CDL1 family and R124H in four families with a granular dystrophy. We identified our granular dystrophy to be Avellino corneal dystrophy (ACD). Eighteen of 20 patients with a granular dystrophy contained the same R124H mutation, indicating that mutation R124H was very common in Korean patients with ACD. During this study, we identified a new polymorphism (T1667C, F540F). CONCLUSIONS: This is the first report of mutations found in the BIGH3 gene in Korean families with corneal dystrophy. We report that the majority (90%) of ACD patients in Korea carry the R124H mutation. Mutant-specific reverse primers can be used to screen efficiently for CDL1 and ACD.     

Two patterns of opacity in corneal dystrophy caused by the homozygous BIG-H3 R124H mutation

PURPOSE: To investigate the opacity pattern in corneas with an Arg124His (R124H) homozygous mutation of the BIG-H3 gene. METHODS: Slit-lamp examination was performed on eight patients with corneal dystrophy resulting from a genetically confirmed BIG-H3 R124H homozygous mutation. The birthplace of each patient also was determined. RESULTS: Slit-lamp examination disclosed two types of opacity patterns in corneas with the BIG-H3 R124H homozygous mutation. Type I (n = 4) is a spot-like opacity present in the anterior stroma in which the lesions are confluent. Type I is the same pattern that previous reports have shown to be caused by the BIG-H3 R124H homozygous mutation. The type II corneal opacity pattern (n = 4) is a reticular opacity in the anterior stroma with round translucent spaces. Type II opacity has not been reported previously in association with any corneal dystrophy. The patients with the type I opacity do not share a common birthplace; however, interestingly, the patients with the type II opacity traced their origin to Tottori prefecture in western Japan. CONCLUSION: The BIG-H3 homozygous R124H mutation induces the development of two distinct patterns of corneal opacity, the recognition of which can establish an accurate diagnosis of corneal dystrophy caused by the homozygous BIG-H3 R124H mutation independent of genetic analysis. In addition, genetic factors or circumstantial influences other than the gene responsible for the corneal dystrophy may influence the pattern of corneal opacity.     

Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan

PURPOSE: To evaluate the incidence of BIGH3 gene mutations in 164 unrelated Japanese patients with corneal stromal dystrophies with an autosomal dominant trait. METHODS: Data were collected at two major institutions in the eastern and western parts of Japan, where molecular genetic analysis was performed for diagnostic purpose. RESULTS: The incidence of mutations was ranked as follows: 118 patients (72%), the R124H mutation associated with Avellino corneal dystrophy; 23 patients (14%), the R124C mutation associated with lattice corneal dystrophy type 1; and 10 patients (6%), the P501T mutation associated with lattice corneal dystrophy type 3A. CONCLUSION: Avellino corneal dystrophy associated with the R124H mutation is the most common form of corneal stromal dystrophy in Japan. This dystrophy, which is diagnosed histopathologically, has also been called granular corneal dystrophy in Japan. The classification of these diseases according to genetic pathogenesis may be more appropriate than is the use of clinical or histological findings.     

角膜营养不良与BIGH3基因突变研究

对角膜营养不良患者进行分子遗传学分析,探讨我国人角膜营养不良中BIGH3基因突变的类型。方法2000年7～12月收集15例颗粒状、Avellino、Reis-Bācklers角膜营养不良患者和5例无任何角膜病变的正常对照者外周血10ml,提取白细胞DNA,利用合成的BIGH3基因第4和第12外显子特异性引物,进行PCR扩增,并对扩增产物进行直接测序,分析相应基因序列。结果15例患者均检出BIGH3基因突变,其中R124H突变10例,包括纯合子2例,杂合子8例;R124L突变2例,均为杂合子;R555W突变3例,均为杂合子;正常对照者均未检出BIGH3基因突变。结论15例角膜营养不良患者的角膜病变均由BIGH3基因突变引起,与国外文献报道相同。突变基因对角膜病变严重程度的影响具有剂量效应,纯合子病情严重。R124L突变患者的临床表现重于R124H突变患者。     

A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population

AIMS: To identify the underlying mutations in our British families and sporadic patients with different types of corneal dystrophies (CDs) and to establish a phenotype-genotype correlation. METHODS: Twenty-nine patients, 9 sporadic and 20 patients from 7 families were subjected to both clinical and genetic examination. Slit lamp examination was performed for all patients who participated in the study to assess their corneal phenotype. Genomic DNA was extracted from 10 ml venous blood, and the BIGH3 gene was amplified exon by exon to perform heteroduplex analysis. Exons that displayed double bands were then analysed by direct bi-directional sequencing and restriction digest analyses. RESULTS: Clinically our patients showed three distinct phenotypes of CD: 16 with Thiel-Behnke corneal dystrophy or corneal dystrophy of Bowman layer type 2 (CDB2), 8 with granular CD (GCD), and 5 with lattice CD type I (LCDI). Three different missense mutations have been detected in the coding region of BIGH3 gene, R555Q, in 16 CDB2 patients, R555W in 8 GCD patients, and R124C in 5 LCDI patients. These mutations were the same as to those previously reported in patients from other ethnic origins. Also,we identified seven nucleotide substitutions that did not change the amino acid sequence of the encoded protein of which four were novel. CONCLUSIONS: In our patients of British origin, each phenotype of CD has been linked to a particular point mutation of the BIGH3 gene. Our study also highlights the importance of codons 124 and 555 as mutation hot spots in the BIGH3 gene in the British population.     

Gelatino-lattice corneal dystrophy: clinical features and mutational analysis

PURPOSE: To report five unrelated Japanese individuals with "gelatino-lattice corneal dystrophy that clinically resembled, to some extent, gelatinous drop-like corneal dystrophy and lattice corneal dystrophy type 1. METHODS: Genomic DNA isolated from the five individuals with "gelatino-lattice corneal dystrophy was used as a template for polymerase chain reaction to amplify all exons of the candidate gene betaig-h3 and M1S1. The polymerase chain reaction product was then sequenced. RESULTS: In all cases, betaig-h3 was mutated in "gelatino-lattice corneal dystrophy (Arg124Cys), which is the same nucleotide change examined previously in lattice corneal dystrophy type 1. On the other hand, no mutation was detected in the entire coding region of M1S1. CONCLUSION: Based on the results of this study, it is suggested that "gelatino-lattice corneal dystrophy may be a subtype of lattice corneal dystrophy type 1.     

Confocal microscopy in cornea guttata and Fuchs'' endothelial dystrophy

AIMS: To report the appearances of cornea guttata and Fuchs' endothelial dystrophy from white light confocal microscopy. METHODS: Seven eyes of four consecutive patients with cornea guttata were prospectively examined. Of the seven eyes, three also had corneal oedema (Fuchs' dystrophy). In vivo white light tandem scanning confocal microscopy was performed in all eyes. Results were compared with non-contact specular microscopy. RESULTS: Specular microscopy was precluded by corneal oedema in one eye. In the remaining six eyes, it demonstrated typical changes including pleomorphism, polymegathism, and the presence of guttae appearing as dark bodies, some with a central bright reflex. In all seven eyes, confocal microscopy revealed the presence of round hyporeflective images with an occasional central highlight at the level of the endothelium. Changes in cell morphology and size were readily appreciated. CONCLUSION: By comparison with specular microscopy, the hyporeflective images with an occasional central highlight seen on confocal microscopy are consistent with the presence of guttae. Confocal microscopy may confirm the diagnosis of cornea guttata and Fuchs' endothelial dystrophy by demonstrating the presence of guttae. This technique is especially valuable in cases of corneal oedema, where specular microscopy may fail to visualise the endothelium. However, specular microscopy should remain the method of choice to evaluate the endothelium, principally because it is easier to use.     

An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan

PURPOSE: To assess the involvement of BIGH3 in corneal dystrophies (CD) with an autosomal dominant trait, in patients referred to a hospital in the Kyushu district of Japan. METHODS: Forty-five CD patients from 44 families were studied. Genomic DNA was extracted from peripheral blood, and exons 4 and 12 of the BIGH3 gene were amplified by polymerase chain reaction followed by direct sequencing. RESULTS: In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4%) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5%). In exon 12, an R555W mutation associated with granular corneal dystrophy (GCD) was detected in 4/44 families (9.1%). CONCLUSIONS: Codons R124 and R555 of the BIGH3 gene represent mutational hotspots in the genomes of Japanese patients with autosomal-dominant CD.     

Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene

OBJECTIVE: This study was designed to describe the clinical, histologic, and ultrastructural features of the corneal dystrophy associated with the R124L mutation of the BIGH3 gene. DESIGN: Retrospective clinical and histologic review of a new genetic mutation. PARTICIPANTS: Thirty-four patients from five unrelated French families with corneal dystrophy caused by the R124L mutation of the BIGH3 gene were studied at the clinical, histologic, and ultrastructural levels. Records of patients carrying this mutation were compared with those from three unrelated patients with corneal dystrophy of Bowman's layer (CDB) type 2 (R555Q mutation) and from three unrelated patients with classic corneal granular dystrophy (R555W mutation). INTERVENTION: The mutational genetic status of the BIGH3 gene was determined for each patient, and the histologic and ultrastructural data available after corneal graft were analyzed. MAIN OUTCOMES MEASURES: Genomic DNA was extracted from peripheral blood leukocytes. Exons 4 and 12 of the BIGH3 gene were amplified by the polymerase chain reaction (PCR), and the PCR products were directly sequenced. RESULTS: All 34 patients with the R124L mutation displayed the clinical, histologic, and electron microscopic features of the dystrophy previously described as a superficial variant of corneal granular dystrophy. Combining molecular genetics with clinical and histologic findings established a clear distinction between the R555Q and R555W dystrophies. CONCLUSIONS: The R124L mutation of the BIGH3 gene is associated with specific clinical and morphologic criteria. This indicates that molecular studies are needed for an adequate classification of corneal dystrophies. All criteria are presently available to segregate the dystrophy caused by the R124L mutation (known as CDB1) from the dystrophy caused by the R555Q mutation (known as CDB2).     

Clinical outcome of eight BIGH3-linked corneal dystrophies

OBJECTIVE: To determine whether the mutational pattern of BIGH3-linked corneal dystrophies (CDs) can accurately predict the clinical course of the disease and be helpful in planning adequate surgical treatment. DESIGN: Retrospective noncomparative case series. PARTICIPANTS: Chart review of 73 patients (110 eyes) with recently confirmed BIGH3 mutations who underwent a penetrating keratoplasty (PK) from 1978 through 1999. Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes). METHODS: The mutation of the BIGH3 gene was characterized for all patients. Clinical data were reviewed for each patient, and included age at first PK and elapsed time before significant recurrence (as defined by a severe decrease in best-corrected visual acuity related to recurrent deposits in the graft). MAIN OUTCOME MEASURES: Mean age at first PK and delay before a significant recurrence. RESULTS: Mutational pattern was highly correlated with the clinical course of each dystrophy. According to the genetic mutation, two groups with different prognosis were identified. Group 1 was defined by the presence of the FVGD/R124 l+DT125-DE126 and SVGD/R124 l mutations and was characterized by the early need for treatment and early recurrence of deposits. Group 2 was molecularly defined by the presence of any of the following mutations: LCDI/R124C, CGCD/R555W, LCDIIIA/A546T, TBCD/R555Q, and LCD/H626R. In group 2, mean age at first treatment was older, and delay before a significant recurrence was longer as compared with group 1 (P = 0.0001). CONCLUSIONS: These results demonstrate that there is a direct correlation between the molecular defect and the clinical course of BIGH3-linked CDs. They also indicate that molecular characterization of the genetic defect will help predict and design adequate surgical treatment for patients with ambiguous clinical diagnosis.     

TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine

In our study, 5 previously reported mutations of the TGFBI gene - R124C, R124H, R124L (exon 4), R555W, R555Q (exon 12) - were analyzed using polymerase chain reaction followed by restriction digestion in 48 individuals from 19 unrelated families with different forms of corneal dystrophy from different regions of Ukraine. The R555W mutation was detected in 6 patients from 4 families with granular corneal dystrophy. The R124C mutation was detected in 1 unaffected 10-year-old individual and in 24 patients from 8 families with lattice corneal dystrophy. As far as the R124C mutation detected in 1 patient with clinically diagnosed Reis-Bucklers corneal dystrophy is concerned, we concluded that this patient was misdiagnosed. The obtained results show that TGFBI gene mutation analysis is important as well for the early differential diagnosis of corneal dystrophies and genetic consulting in high-risk families.     

分子遗传学实验研究在角膜营养不良临床诊断中的应用

目的 :通过对相关基因突变的检测 ,探讨以分子遗传学为基础的新的临床分类方法在角膜营养不良临床诊断中的应用。方法 :取我院门诊及病房收治的角膜营养不良患者 2 0例及 10例正常人外周静脉血 2ml,采取快速法提取白细胞DNA ,合成特异引物 ,分别行BIGH3基因第 4及第 12外显子PCR扩增 ,将PCR扩增产物进行纯化和测序。结果 :所有角膜营养不良患者均有BIGH3基因突变 ,其中 ,13例为R12 4H杂合子 ,确诊为Avellino角膜营养不良 ;3例为R5 5 5W杂合子 ,确诊为颗粒状角膜营养不良 ;4例为R12 4C杂合子 ,确诊为格子状角膜营养不良Ⅰ型。所有正常对照者均无BIGH3基因突变。结论 :通过本研究证实 ,以分子遗传学为基础的新的临床分类方法使诊断更为准确 ,同时使更为准确地预测疾病的发生、发展及预后成为可能 ,并为今后进行更为根本、有效的治疗包括基因治疗打下了良好的基础。     

Laser in situ keratomileusis in patients with corneal guttata and family history of Fuchs' endothelial dystrophy

PURPOSE: To report 1-year results of laser in situ keratomileusis (LASIK) in 7 eyes with corneal endothelial guttata and a family history of Fuchs' endothelial dystrophy. SETTING: John Moran Eye Center, University of Utah, Salt Lake City, Utah, USA. METHODS: A retrospective chart review was performed of 4 patients (7 eyes) who had trace to 1+endothelial guttata and a family history of Fuchs dystrophy and then had uneventful LASIK for the correction of myopia and myopic astigmatism. Preoperative and postoperative measurements included uncorrected visual acuity (UCVA), best spectacle-corrected visual acuity (BSCVA), corneal pachymetry, endothelial cell density (ECD), manifest refraction, and spherical equivalent. The changes in ECD, pachymetry, and spherical equivalent after LASIK were subjected to statistical analysis using a paired Student t test to determine significance. RESULTS: Transient corneal edema was noted in the early postoperative period in 3 eyes of 2 patients. At 1 year, 6 of the 7 (86%) eyes had lost > or =2 lines of BSCVA. A statistically significant decrease in ECD of 12.4% +/- 2.7% was observed at 1 year compared with baseline (P < .001). An increase in corneal thickness (P = .006) and a statistically significant myopic shift in spherical equivalent (P = .017) was also noted at 1 year compared with 3 months. CONCLUSIONS: Patients with mild corneal guttata and a family history of Fuchs' dystrophy are prone to transient corneal edema, loss of BSCVA, endothelial cell loss, and myopic regression after uneventful LASIK for correction of myopia and myopic astigmatism.