Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r = -0.62, P = 5.30 × 10-5) but not between CCT and primary open-angle glaucoma (r = -0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.

To identify known and novel CYP4V2 mutations in patients with Bietti crystalline cornea (BCD), expand the spectrum of CYP4V2 mutations, and characterize the population history of the c.802-8_810del17insGC mutation common in Asian populations, genomic DNA was isolated from peripheral blood samples from 58 unrelated patients with clinical diagnoses of BCD. Exons and flanking intronic regions of the CYP4V2 gene were dideoxy DNA sequenced. Nonpathogenic polymorphisms were excluded and known mutations were identified by sequencing 192 unaffected individuals from similar ethnic backgrounds and examination of online databases. The age of the c.802-8_810del17insGC mutation was estimated using three independent approaches. A total of 28 CYP4V2 mutations, 9 of which were novel, were detected in the 58 patients with BCD. These included 19 missense, 4 nonsense, 2 deletion, 2 splice site, and 1 insertion-deletion mutations. Two missense variants of uncertain significance were also detected. The age of the c.802-8_810del17insGC mutation was estimated to be 1040-8200 generations in the Chinese and 300-1100 generations in the Japanese populations. These results expand the mutation spectrum of CYP4V2, and provide insight into the origin of the c.802-8_810del17insGC mutation in the Chinese population and its transmission to the Japanese population.

Clinical characterization of posterior polymorphous corneal dystrophy in patients of Indian ethnicity.

PURPOSE: To characterize the clinical presentation of posterior polymorphous corneal dystrophy (PPCD) in eyes of Indian ethnicity. DESIGN: Retrospective cohort study from January 1995 to December 2015. PARTICIPANTS: Patients with the diagnosis of posterior polymorphous corneal dystrophy. METHODS: Medical records of the patients were reviewed for clinical presentation. Histology of corneal specimens of those that underwent keratoplasty was assessed. MAIN OUTCOME MEASURES: Descriptive analysis of clinical condition. RESULTS: Mean age at first evaluation was 32.5 years (range 1-73 years), male:female = 35:18. Majority (44/53; 83 %) of the patients had bilateral involvement. 5/9 (44 %) patients with unilateral presentation were amblyopic in the affected eye. The clinical features documented were vesicles in 94 eyes, band-like pattern in 32 eyes, edema of varying degree in 23 eyes (12 patients, 1 patient was one eyed), and anterior segment changes in 1 eye. 8/45 (17 %) eyes had a regular astigmatism with steep axis >47 D (range 47.2-56.2 D). 16 eyes of 12 patients who had clinically evident corneal edema underwent keratoplasty. Mean age at keratoplasty was 58 years (range 1-73 years). 8 patients had penetrating keratoplasty (PK) and 8 had Descemet stripping endothelial keratoplasty (DSEK). Mean follow-up after keratoplasty was 4.2 years (1 month to 13 years). Except one, all grafts remained clear till the last follow-up. In all specimens, the Descemet membrane was grossly thickened. CONCLUSIONS: In our study, 12/53 (22.6 %) patients required keratoplasty for visually significant corneal edema. Except one, all were older adults. The patients who needed keratoplasty were bilaterally afflicted and had visually significant cornea edema in both eyes. With a mean follow-up duration of 4.2 years after keratoplasty, no recurrences were noted.

Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family.

PURPOSE: To describe the clinical signs of gelatinous drop-like corneal dystrophy (GDLD) in a consanguineous Colombian family and determine the underlying genetic cause. METHODS: We performed ocular examination of available family members and bidirectionally Sanger sequenced the GDLD-associated gene, TACSTD2. In one individual, the presence of subepithelial amyloid was confirmed with biopsy. RESULTS: The parents were consanguineous and 5 of their 10 children had GDLD. Typical mulberry subepithelial deposits with subepithelial vascularization were present in 3 individuals; 2 individuals only had mild polymorphic anterior stromal opacity. We identified a homozygous TACSTD2 missense mutation, c.551A>G, p.(Tyr184Cys), in the affected family members. Both parents were heterozygous for the mutation, and unaffected siblings were either heterozygous or homozygous wild-type for this allele. In the Colombian population, this mutation has a minor allele frequency of 0.53%. CONCLUSION: The clinical presentation of GDLD in this family was variable and does not solely support an age-dependent progression of the phenotype, suggesting that environmental or other genetic factors can modify phenotypic expression. The relatively high prevalence of this mutation in the Colombian population suggests that other individuals may have undiagnosed subclinical disease.

Mutational spectrum of Korean patients with corneal dystrophy.

Corneal dystrophy typically refers to a group of rare hereditary disorders with a heterogeneous genetic background. A comprehensive molecular genetic analysis was performed to characterize the genetic spectrum of corneal dystrophies in Korean patients. Patients with various corneal dystrophies underwent thorough ophthalmic examination, histopathologic examination, and Sanger sequencing. A total of 120 probands were included, with a mean age of 50 years (SD = 18 years) and 70% were female. A total of 26 mutations in five genes (14 clearly pathogenic and 12 likely pathogenic) were identified in 49 probands (41%). Epithelial-stromal TGFBI dystrophies, macular corneal dystrophy and Schnyder corneal dystrophy (SCD) showed 100% mutation detection rates, while endothelial corneal dystrophies showed lower detection rates of 3%. Twenty six non-duplicate mutations including eight novel mutations were identified and mutations associated with SCD were identified genetically for the first time in this population. This study provides a comprehensive characterization of the genetic aberrations in Korean patients and also highlights the diagnostic value of molecular genetic analysis in corneal dystrophies.

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.

PURPOSE: To identify the underlying genetic defect in Korean patients with macular corneal dystrophy (MCD). METHODS: Genomic DNA was isolated from peripheral blood leukocytes of seven patients from six unrelated families with MCD (three men and four women). Polymerase chain reaction was performed for coding regions of the carbohydrate sulfotransferase (CHST6), gene followed by bidirectional sequencing. Targeted mutational analysis (exons 4, 11-12, 14) of the transforming growth factor, beta-induced (TGFBI) gene was performed for all patients. RESULTS: All seven patients were found to have compound heterozygous mutations in the CHST6 gene. In addition to six previously reported mutations, c.95C>A (p.Ser32*), c.521A>G (p.Lys174Arg), c.557C>G (p.Pro186Arg), c.613C>T (p.Arg205Trp), c.820G>A (p.Glu274Lys), and c.1072T>C (p.Tyr358His), three novel mutations were identified in this study, including two missense mutations, c.353C>T (p.Ser118Phe) and c.922C>T (p.His308Tyr), and one frameshift mutation, c.786delC (p.L264Cfs*117). Among the three novel mutations, only the c.353C>T mutation had been reported in the Exon Aggregation Consortium database at an extremely low frequency of 0.00005072. In addition, these three novel mutations were absent from controls in 1,000 genomes, dbSNP, and the TIARA genome database, which is a Korean personal genome database. The most frequent mutation was c.613C>T (p.Arg205Trp), revealed in four unrelated Korean families, which has not previously been reported in other populations. No mutations were detected in the TGFBI gene. DISCUSSION: This is the first report on genetic analysis of Korean MCD patients. Three novel and six previously reported disease-causing CHST6 mutations were identified, which expands the mutational spectrum of MCD.

Peripapillary choroidal thickness in young Asians with high myopia.

PURPOSE: To describe the topography and predictors of peripapillary choroidal thickness (PPCT) in highly myopic eyes of young, healthy, Asian subjects. METHODS: A total of 870 young male subjects aged 21.63 ± 1.15 years were recruited from the Singapore military. Choroidal imaging was performed using enhanced depth imaging (EDI) spectral-domain optical coherence tomography (SD-OCT). Peripapillary choroidal thickness was manually measured at eight locations around the optic disc. RESULTS: We analyzed 448 subjects with high myopia (defined as spherical equivalent [SE] worse than -6.0 diopters [D]) and 116 with emmetropia (SE > -0.5 and < 0.5 D). The mean SE was -8.52 ± 1.20 D for the high-myopic group, and 0.11 ± 0.24 D for the emmetropic group. The mean peripapillary choroid was significantly thinner (142.62 ± 43.84 µm) in high myopes compared with emmetropes (181.90 ± 46.43 µm, P < 0.001). Likewise, PPCT showed further decrease with increase in degree of myopic refractive error. Distribution of PPCT showed a markedly different pattern in high-myopic eyes (thickest superiorly) and emmetropic eyes (thickest temporally). However, peripapillary choroid in both the groups was thinnest at the inferior location. Among the ocular factors studied, axial length, IOP, presence of posterior staphyloma, and chorioretinal atrophy were the factors significantly associated with PPCT. CONCLUSIONS: Highly myopic eyes have significantly thinner peripapillary choroid and showed different distribution of thickness, compared with emmetropes. Axial length, IOP, and presence of posterior staphyloma and chorioretinal atrophy significantly influence PPCT and should be taken into consideration during clinical interpretation of PPCT measurement.

Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.

PURPOSE: To investigate the clinical features and cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) gene mutations in 14 Chinese families with Bietti crystalline dystrophy (BCD). METHODS: Seventeen patients from 14 unrelated Chinese families with BCD were recruited for complete clinical ophthalmic examination and genetic study. The 11 exons of CYP4V2 were amplified from genomic DNA of all patients and their family members by polymerase chain reaction (PCR) and then sequenced. Exons of TIMP3 were also sequenced in BCD patient associated with choroidal neovascularization (CNV). One hundred and seventy unrelated healthy Chinese subjects were screened for mutations in CYP4V2. RESULTS: All 17 patients with BCD had mutations in CYP4V2; one of these mutations was novel (c.219T>A, p.F73L) and four other mutations had been reported. The p.F73L mutation was a commonly detected mutation in our study (seven out of 34 alleles), either in the homozygous state or in the heterozygous state. Among the patients, considerable phenotypic variability was detected, both within and between families. Screening of TIMP3 did not find any mutation in the BCD patient associated with CNV. CONCLUSION: The novel CYP4V2 c.219T>A (p.F73L) mutation may be another recurrent mutation in Chinese patients with BCD. Our study expands the mutation spectrum of CYP4V2 and characterizes novel genotype-phenotype associations in Chinese patients with BCD.

Myopia-related fundus changes in Singapore adults with high myopia.

PURPOSE: To examine the pattern of myopia-related macular and optic disc changes in Singapore adults with high myopia (spherical equivalent ≤-6.00 diopters). DESIGN: Asian adults with high myopia from 3 population-based surveys. METHODS: Adults 40 years and older (n = 359) with high myopia were pooled from 3 population-based surveys in Singapore Asians: (1) the Singapore Prospective Study Program (SP2, n = 184); (2) the Singapore Malay Eye Study (SiMES, n = 98); and (3) the Singapore Indian Eye Study (SINDI, n = 77). All study participants underwent standardized refraction and fundus photography, and SiMES and SINDI subjects also completed ocular biometry measurements. Myopia-related macular (posterior staphyloma, lacquer cracks, Fuchs spot, myopic chorioretinal atrophy, and myopic choroidal neovascularization) and optic disc (optic nerve head tilt, optic disc dimensions, and peripapillary atrophy) changes were evaluated. RESULTS: The most common myopia-related macular finding in adults with high myopia was staphyloma (23%), followed by chorioretinal atrophy (19.3%). There were few cases of lacquer crack (n = 6, 1.8%), T-sign (n = 6, 1.8%), retinal hemorrhage (n = 3, 0.9%), active myopic choroidal neovascularization (n = 3, 0.9%), and no case of Fuchs spot. The most common disc finding associated with high myopia was peripapillary atrophy (81.2%), followed by disc tilt (57.4%). Staphyloma and chorioretinal atrophy increased in prevalence with increasing age, increasing myopic refractive error, and increasing axial length (all P < .001). Ethnicity comparisons demonstrated the highest proportion of staphyloma (P = .04) among Malays, the highest proportion of peripapillary atrophy (P = .01) and disc tilt (P < .001) among Chinese, and the largest cup-to-disc ratio (P < .001) among Indians. CONCLUSIONS: Staphyloma and chorioretinal atrophy lesions were the most common fundus findings among Asian adults with high myopia. In this population, tilted discs and peripapillary atrophy were also common, while choroidal neovascularization and Fuchs spot were rare. In contrast with Singapore teenagers, in whom tilted disc and peripapillary atrophy were common while staphyloma and chorioretinal atrophy were rare, pathologic myopia appears to be dependent on the duration of disease and, thus, age of the individual.

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.

PURPOSE: Investigate the genotype-phenotype correlations for five TGFBI (transforming growth factor, beta-induced) mutations including one novel pathogenic variant and one complex allele affecting the fourth FAS1 domain of keratoepithelin, and their potential effects on the protein's structure. METHODS: Three unrelated families were clinically diagnosed with lattice corneal dystrophy (CD) and one with an unclassified CD of Bowman's layer. Mutations in the TGFBI gene were detected by direct sequencing, and the functional impact of each variant was predicted using in silico algorithms. Corneal phenotypes, including histological examinations, were compared with the literature data. Furthermore, molecular modeling studies of these mutations were performed. RESULTS: Two distinct missense mutations affecting the same residue at position 509 of keratoepithelin: p.Leu509Pro (c.1526T>C) and p.Leu509Arg (c.1526T>G) were found to be associated with a lattice-type CD. The novel p.Val613Gly (c.1828T>G) TGFBI mutation was found in a sporadic case of an Algerian individual affected by lattice CD. Finally, the Bowman's layer CD was linked to the association in cis of the p.Met502Val and p.Arg555Gln variants, leading to the reclassification of this CD as atypical Thiel-Behnke CD. Structural modeling of these TGFBI mutations argues in favor of these mutations being responsible for instability and/or incorrect folding of keratoepithelin, predictions that are compatible with the clinical diagnoses. CONCLUSIONS: Description of a novel TGFBI mutation and a complex TGFBI allele further extends the mutational spectrum of TGFBI. Moreover, we show convincing evidence that TGFBI mutations affecting Leu509 are linked to the lattice phenotype in two unrelated French families, contrasting with findings previously reported. The p.Leu509Pro was reported to be associated with both amyloid and non-amyloid aggregates, whereas p.Leu509Arg has been described as being responsible for Epithelial Basement Membrane Dystrophy (EBMD).

Molecular genetics of Chinese families with TGFBI corneal dystrophies.

PURPOSE: To identify clinical features and mutations within the transforming growth factor-beta-induced (TGFBI) gene in three Chinese families with Granular corneal dystrophy, type 1 (GCD1) and Granular corneal dystrophy, type 2 (GCD2). METHODS: Clinical features of GCD1 and GCD2 in three Chinese families were studied with slit-lamp and in vivo laser scanning confocal microscopy (LSCM). Molecular genetic analysis was performed on nine patients and fifteen unaffected individuals from these families. All exons of TGFBI were amplified by polymerase chain reaction (PCR) and sequenced. RESULTS: Morphological changes in the cornea among affected individuals from three Chinese families examined by in vivo LSCM were almost the same. A heterozygous mutation C>T (R555W) was identified in exon 12 of TGFBI in patients of family A with GCD1. Another heterozygous mutation G>A (R124H) was found in exon 4 of TGFBI in affected members of family B and C with GCD2. CONCLUSIONS: Mutations R555W and R124H in TGFBI were identified in three Chinese families with GCD. Even though there are a variety of mutations in TGFBI of GCD, the different subtypes of GCD (GCD1, GCD2, and GCD3) are in fact the same disorder. Our work supports the hypothesis that corneal dystrophies with the common genetic basis in TGFBI should be grouped together as TGFBI corneal dystrophies.

Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor.

PURPOSE: Lattice corneal dystrophy (LCD) type IV (LCD4) is a late-onset corneal dystrophy with amyloid deposition at the deep stromal layer of cornea. As with other corneal dystrophies, this LCD subtype is also caused by a mutation (p. Leu527Arg) of the transforming growth factor, beta-induced (TGFBI) gene. Although LCD type I has been reported worldwide, LCD4 has been reported only in the Japanese population. In the present study, a haplotype analysis was performed to investigate whether this LCD subtype is caused by a founder mutation. METHODS: Genomic DNA samples were extracted from 13 unrelated patients with LCD4. As a control, genomic DNA samples from 96 normal volunteers were also analyzed. For the haplotype analysis, the samples were amplified by polymerase chain reaction (PCR), TA-cloned, isothermally amplified, and subjected to a 1-base primer extension assay against a mutation site (c.1580T>G) and six known single-nucleotide polymorphisms (SNPs; rs4669, rs2072239, rs7727725, rs17689879, rs6871571, and rs3792900), which are located adjacent to the mutation site. RESULTS: The haplotype analysis revealed that all the disease-carrying alleles from the 13 LCD4 patients shared an identical haplotype, whereas non-disease-carrying alleles from the normal volunteers and the LCD4 patients exhibited four haplotypes. There was a statistically significant difference in the haplotype distribution between the disease-carrying and the non-disease-carrying alleles. CONCLUSIONS: The findings of this study strongly indicate that LCD4 was caused by a founder mutation of the TGFBI gene that occurred in a single Japanese ancestor.

Femtosecond-assisted lamellar keratoplasty in atypical Avellino corneal dystrophy of Indian origin.

PURPOSE: To report a case of Avellino corneal dystrophy (ACD) in a patient of Indian origin treated with femtosecond-assisted lamellar keratoplasty (FALK). METHODS: A 6-year-old male patient presented with severe photophobia with decreased vision for 2 months. A clinical diagnosis of Avellino dystrophy was made after complete examination under anesthesia and FALK was performed. RESULTS: The postoperative period was uneventful with good symptomatic improvement and graft clarity. Histopathological study with special staining, namely Masson trichrome and Congo red stain, of the patient's corneal button showed features of both granular and lattice lesions suggestive of ACD. Genetic analysis showed absence of R124H mutation in BIGH3 gene. No recurrence or exacerbation was noted at 19-month follow-up. CONCLUSIONS: To our knowledge, this is the first case report of clinical, histopathological, microscopic features of ACD in young patient of Indian origin with absence of BIGH3 gene treated with FALK with IntraLase Femtosecond Laser for donor and recipient cuts.

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.

PURPOSE: To determine the extent of allelic, and possibly locus, heterogeneity in congenital hereditary endothelial dystrophy (CHED, MIM 217700) in patients from a highly consanguineous Saudi population. METHODS: Homozygosity was determined at the solute carrier family 4, sodium bicarbonate transporter-like, member 11 (SLC4A11) locus followed by full sequencing of SLC4A11 in 10 patients representing seven unrelated families. RESULTS: All 10 patients were homozygous at the SLC4A11 locus. Seven mutations were identified, five of which are novel, including one likely intronic splicing enhancer mutation, all predicted to result in reduction or loss of bicarbonate transporter-related protein 1 (BTR1). CONCLUSIONS: In this small cohort, no evidence was found of genetic heterogeneity in CHED and that loss of BTR1 function is the most likely mutational mechanism.

Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.

OBJECTIVE: To identify Solute Carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) gene mutations associated with autosomal recessive congenital hereditary endothelial dystrophy (CHED2). METHODS: DNA extraction from blood, polymerase chain reaction amplification, and direct sequencing of all the exons of the SLC4A11 gene were performed for 26 affected members of 20 unrelated families with CHED2. RESULTS: Of 10 mutations observed, 6 were novel, 1 of which involves a complete deletion of exon 6, identified for the first time, to our knowledge, in SLC4A11. The mutations cosegregated with the disease phenotype and were absent in 200 ethnically matched control chromosomes analyzed. CONCLUSIONS: This study increases the number of SLC4A11 gene mutations and confirms the role of this gene in causing CHED2. Clinical examination did not reveal any considerable variability in disease expressivity in patients carrying SLC4A11 mutations. Extensive linkage analysis may reveal the modifier genes involved in causing CHED2 in the SLC4A11 mutations unidentified in 9 families. CLINICAL RELEVANCE: In India, there is a high frequency of CHED2, possibly related to consanguineous marriages. Counseling could be provided to explain the drawbacks of consanguineous marriages to assist in reducing this devastating disorder.

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.

INTRODUCTION: The objective of this study was to investigate genotype-phenotype correlations, the consequences for surgical treatment, and the therapeutical options in patients with macular corneal dystrophy (MCD). MATERIAL AND METHODS: We investigated MCD genotype by using polymerase chain reaction followed by direct sequencing in one family and four patients with MCD. Results were confirmed by restriction analysis. Clinical phenotypes, histopathological findings, and therapeutical proceedings of each patient were reported and compared with the molecular genetic results. RESULTS: Five mutations, four missense mutations, and one frameshift mutation, from which three were novel, and one single-nucleotide polymorphism, were identified within the coding region of the CHST6 gene. In three patients, two with a homozygous mutation within the start codon (Met1Leu) and one with a heterozygous mutation (Leu200Arg) and a polymorphism (Arg162Gly), with irregular corneal surface and recurrent erosions a phototherapeutic keratectomy lead to a transient success. An additional fitting of rigid gas permeable contact lenses in one patient could further improve irregular astigmatism. In two patients, one with a frameshift mutation (1734_1735delTG; Arg211Gln) and one with two compound heterozygous mutations (Leu200Arg; Leu173Phe) and an additional polymorphism (Arg162Gly) a penetrating keratoplasty improved BCVA without any recurrence of the opacities within the follow-up time. DISCUSSION: Different genotypes imply several phenotypes, which influence therapeutical proceedings in MCD patients. Our study shows the wide range of diagnostic findings and therapeutical options in patients suffering from macular corneal dystrophy depending on the genotype.

Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy.

PURPOSE: To report the clinical and genetic analysis of a Mexican female patient with a sporadic Bietti's crystalline corneoretinal dystrophy. METHODS: Ophthalmological examination included best-corrected visual acuity, slit lamp examination, applanation tonometry, fundus photography, fluorescein retinal angiography, Goldmann kinetic perimetry, corneal rotating Scheimpflug imaging, and anterior segment optical coherence tomography (Visante OCT). Genetic analysis included PCR amplification and direct nucleotide sequencing of the entire CYP4V2 gene in DNA from the propositus and her relatives. RESULTS: A late-stage retinal dystrophy was established in the patient. No retinal or corneal crystalline deposits were evident during clinical evaluation. Retrospective analysis of fundus imaging disclosed the presence of retinal crystalline deposits, suggesting the diagnosis of Bietti's crystalline corneoretinal dystrophy. Molecular analysis of the CYP4V2 gene revealed the presence of a novel C to T mutation at nucleotide position 974 (exon 7), predicting a threonine to isoleucine replacement at amino acid position 325. Corneal deposits were not seen by biomicroscopy, corneal OCT, or specular microscopy but were evidenced by means of the corneal rotating Scheimpflug imaging. CONCLUSION: Our results expand the allelic heterogeneity of Bietti's crystalline corneoretinal dystrophy. This is the first patient of Latin-American origin in which a molecular analysis of the disease has been performed. Our results suggest that the use of corneal rotating Scheimpflug imaging can evidence corneal deposits that are not apparent by other methods.

Deep anterior lamellar keratoplasty in Korean patients with Avellino dystrophy.

PURPOSE: To evaluate the surgical outcome of deep anterior lamellar keratoplasty (DALK) in Korean patients with Avellino dystrophy. METHODS: A retrospective study was performed in 4 eyes (4 patients) with recurrent Avellino dystrophy after phototherapeutic keratectomy (PTK). Genetic study was performed on 2 patients to confirm the diagnosis. Partial-thickness donor cornea (devoid of endothelium and Descemet membrane) was transplanted onto a recipient bed after deep lamellar dissection and removal of recipient stroma. Visual acuity, refractive error, keratometry values, topographic astigmatism, and complications were evaluated after a follow-up period of at least 14 months. RESULTS: The mean age of the patients was 52.5 +/- 3.32 years, and the mean follow-up period was 17.5 +/- 3.11 months. Visual acuity was improved to > or = 20/25 in all cases. Postoperative topographic astigmatism ranged from 1.2 to 4.9 D. In 1 case, double anterior chamber developed after the operation, which resolved after gas injection into the anterior chamber. During the follow-up period, there were no signs of graft rejection, and all grafts were transparent except one, in which small opacity recurred in the peripheral corneal stroma 13 months postoperatively. CONCLUSIONS: DALK is considered a good primary surgical option in patients with recurrent Avellino dystrophy after PTK.