A genome-wide association study of corneal astigmatism: The CREAM Consortium.

Purpose: To identify genes and genetic markers associated with corneal astigmatism. Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for corneal and refractive astigmatism and the spherical equivalent were calculated for Europeans using LD score regression. Results: The meta-analysis of all cohorts identified a genome-wide significant locus near the platelet-derived growth factor receptor alpha (PDGFRA) gene: top SNP: rs7673984, odds ratio=1.12 (95% CI:1.08-1.16), p=5.55×10-9. No other genome-wide significant loci were identified in the combined analysis or European/Asian ancestry-specific analyses. Gene-based analysis identified three novel candidate genes for corneal astigmatism in Europeans-claudin-7 (CLDN7), acid phosphatase 2, lysosomal (ACP2), and TNF alpha-induced protein 8 like 3 (TNFAIP8L3). Conclusions: In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, gene-based analysis identified three novel candidate genes, CLDN7, ACP2, and TNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. The much lower number of genetic variants and genes demonstrating an association with corneal astigmatism compared to published spherical equivalent GWAS analyses suggest a greater influence of rare genetic variants, non-additive genetic effects, or environmental factors in the development of astigmatism.

Accounting for Ethnicity-Related Differences in Ocular Surface Integrity as a Step Toward Understanding Contact Lens Discomfort.

Contact lens discomfort is a common problem that can lead to unsuccessful or limited contact lens wear. Although many factors may contribute to contact lens discomfort, limited research has explored the influence of ethnicity-related differences in the anatomy and physiology of the ocular surface. Therefore, we performed a search of the literature in PubMed using key words related to "ocular surface" paired with the terms "race" and "ethnicity." The goal of this review was to determine potential areas of research regarding ethnicity differences, particularly between Asian and non-Asian eyes, in ocular surface integrity to advance our understanding of contact lens discomfort.

Five-Year Graft Survival Comparing Descemet Stripping Automated Endothelial Keratoplasty and Penetrating Keratoplasty.

PURPOSE: To compare 5-year graft survival after Descemet stripping automated endothelial keratoplasty (DSAEK) and penetrating keratoplasty (PK) in Asian eyes. DESIGN: Prospective, nested, cohort study. PARTICIPANTS: Consecutive patients who underwent DSAEK (423 eyes) or PK (405 eyes) for Fuchs' endothelial dystrophy (FED) or bullous keratopathy (BK). METHODS: Clinical data and donor and recipient characteristics were recorded from our prospective cohort from the Singapore Corneal Transplant Registry. All surgeries were performed by the corneal surgeons at our center, which included cases performed or partially performed by corneal fellows in training under direct supervision. MAIN OUTCOME MEASURES: Five-year cumulative graft survival. RESULTS: Overall mean age was 67.8±9.8 years, and 50.1% of patients were men. There were no significant differences in age (P = 0.261) or gender (P = 0.78) between PK and DSAEK groups in our predominantly Chinese (76.6%) Asian cohort, with more BK compared with FED (68.1% vs. 31.9%; P < 0.001). Overall 5-year graft survival was superior for DSAEK compared with PK (79.4% vs. 66.5%; P < 0.001, log-rank test). Median 5-year percent endothelial cell density loss was significantly greater in PK compared with DSAEK (60.9% vs. 48.7%; P = 0.007). Cox regression analysis revealed that BK was a significant factor associated with graft failure (hazard ratio [HR], 3.30; 95% confidence interval [CI], 2.05-5.33; P < 0.001), and PK was more likely to fail compared with endothelial keratoplasty (HR, 1.61; 95% CI, 1.08-2.41; P = 0.02) adjusting for confounders such as recipient age, gender, and donor factors. Five-year cumulative incidence of complications such as graft rejection (P < 0.001), epitheliopathy (P < 0.001), suture-related corneal infections (P < 0.001), and wound dehiscence (P = 0.002) were greater in the PK group compared with the DSAEK group. CONCLUSIONS: In Asian eyes from the same study cohort with standardized surgical and postoperative regimes, 5-year graft survival was superior for DSAEK compared with PK in eyes with FED and BK.

Contact lens care solutions: a pilot study of ethnic differences in clinical signs and symptoms.

OBJECTIVES: To determine whether Asian and white subjects differ in clinical signs or subjective symptoms in response to the use of different biguanide-preserved contact lens care solutions. METHODS: Forty-two subjects (15 Asian and 27 white) wearing lotrafilcon B silicone hydrogel contact lenses used a preservative-free lens care solution bilaterally for 2 weeks, then used two biguanide-preserved solutions (solution 1: ReNu MPS; solution 2: AQuify MPS) contralaterally in randomly assigned eyes for 4 weeks. Comprehensive ocular surface examinations were performed and symptomatology questionnaires were administered every 2 weeks. Investigators were masked as to solution assignment during examinations, whereas subjects were not to avoid potential difficulties in compliance with the protocol. RESULTS: With solution 1, most Asian and white subjects had grade 2 or greater corneal staining after 2 weeks (67% and 59%, respectively) and 4 weeks (60% and 67%, respectively). With solution 2, grade 2 or greater corneal staining occurred in 40% of Asians after 2 weeks and in 13% after 4 weeks, but in only 4% of whites after 2 weeks and 0% after 4 weeks. Whites reported significantly better average comfort (P=0.046) and less dryness (P<0.001) than did Asians. CONCLUSIONS: Asians and whites differ in both ocular response to the use of contact lens care solutions and in reporting subjective symptoms. Racial and ethnic differences should be considered when evaluating and treating contact lens patients in a clinical setting.

Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.

Corneal curvature (CC) is a key determinant of major eye diseases, such as keratoconus, myopia and corneal astigmatism. No prior studies have discovered the genes for CC. Here we report the findings from four genome-wide association studies of CC in 10 008 samples from three population groups in Singapore. Our discovery phase surveyed 2867 Chinese and 3072 Malays, allowing us to identify two loci that were associated with CC variation: FRAP1 on chromosome 1p36.2 and PDGFRA on chromosome 4q12. These findings were subsequently replicated in a validation study involving an additional 2953 Asian Indians and a further collection of 1116 Chinese children. The effect sizes of the identified variants were consistent across all four cohorts, with seven single nucleotide polymorphisms (SNPs) in FRAP1 (lead SNP: rs17036350, meta P-value = 4.06 × 10(-13)) and six SNPs in PDGFRA (lead SNP: rs2114039, meta P-value = 1.33 × 10(-9)) attaining genome-wide significance in the SNP-based meta-analysis of the four studies. This is the first genome-wide survey of CC variation and we have identified two implicated loci in three genetically diverse Asian populations, suggesting the presence of common genetic etiology across multiple populations.

Clinical and pathological characteristics of ocular surface squamous neoplasia in an Asian population.

BACKGROUND: In order to evaluate clinical and pathological characteristics of ocular surface squamous neoplasia (OSSN) in Asian population. METHODS: Medical records were reviewed of 30 eyes of 30 Korean patients who underwent en-bloc excision and biopsy for tumors in the corneal and conjunctival epithelium in the suspicion of OSSN. RESULTS: Tumors developed predominantly in males (21/30 patients, 70%) at the mean age of 64.8 years (range: 39-82 years). Histologic examination revealed that 11 cases were squamous cell carcinoma (SCC), eight were conjunctival or corneal intraepithelial neoplasm (CIN) with dysplastic cells in the epithelium, eight simple hyperplasia, and three inflammatory lesions. The majority of SCC (9/11 eyes, 81.8%) involved the nasal conjunctiva and cornea, while one of eight eyes (12.5%) with CIN was located at the nasal side. Vascularization was combined in all eyes with SCC, in two of eight (25%) with CIN, in two of three with inflammation, and in none with hyperplasia. Both cornea and conjunctiva were involved in ten of 11 eyes (90.9%) with SCC, in six of eight (75%) with CIN, in two of eight (25%) with hyperplasia, and in two of three (66.7%) with inflammation. When classified based on clinical appearance, seven of 11 eyes (63.6%) with SCC were papilliform sessile masses, and four of eight (50 %) with CIN showed gelatinous growth onto the surface. All lesions were treated with en-bloc excision and cryotherapy. Recurrence occurred in seven out of 19 patients (36.8%) with SCC or CIN during the mean follow-up of 30.0 months-four patients with SCC and three with CIN. Hyperplasia or lesions with inflammation did not recur. The recurrence rate was not associated with histological diagnosis of a lesion. However, the use of the postoperative chemotherapy including topical mitomycin C or interferon α 2b had a significant negative correlation with the recurrence. CONCLUSIONS: In total, 36.7% of tumors in the corneal and conjunctival epithelium were SCC, and 26.7% were CIN. Recurrence occurred in 36.8% of patients with SCC or CIN after primary excision and cryotherapy. The use of postoperative chemotherapy was a significant factor negatively affecting the recurrence.

Long-Term Review of Penetrating Keratoplasty: A 20-Year Review in Asian Eyes.

PURPOSE: To review the long-term outcomes of optical, therapeutic and tectonic forms of penetrating keratoplasty over a 20-year period in Asian eyes. DESIGN: Prospective cohort study involving the Singapore Corneal Transplant Study (SCTS). METHODS: All penetrating keratoplasties (PK) performed at the Singapore National Eye Centre (SNEC) from January 1991 to December 2010 were analyzed using records from the computerized database of the SCTS. This database includes preoperative, intraoperative, and postoperative patient data and donor cornea data. Only primary grafts were included. Patient demographics, donor cornea source, indications for grafting, complications, graft survival rate, and causes of graft failure were analyzed. RESULTS: A total of 1,206 primary PKs were performed. The mean age of the patients was 55 years (range: <1-101 years). The overall corneal graft survival rates at 1, 5, 10, 15, and 20 years were 91%, 66.8%, 55.4%, 52%, and 44%, respectively. For optical grafts, pseudophakic bullous keratopathy, postinfectious corneal scarring and thinning and keratoconus were the most common diagnoses. Graft survival for optical grafts was significantly better than therapeutic and tectonic grafts at all time points. Multivariate analysis suggested that a younger donor cornea age and higher donor endothelial cell count are associated with better long-term graft survival for optical grafts. Irreversible allograft rejection and late endothelial failure accounted for more than 60% of graft failures. CONCLUSIONS: Graft survival decreased over time from 91% at 1 year to 44% at 20 years' follow-up. Allograft rejection and late endothelial failure accounted for more than 60% of graft failures.

Epiblepharon in East asian patients: the singapore experience.

PURPOSE: To describe the demographics, presenting symptoms, indications for surgery, and surgical outcomes of epiblepharon correction in a tertiary care hospital in Singapore. DESIGN: Retrospective review of patients who underwent surgery by 2 surgeons in a referral oculoplastic practice at the National University Health System, Singapore, from 2001 to 2007. PARTICIPANTS: A total of 108 patients who underwent surgery for clinically significant epiblepharon. INTERVENTION: Modified Hotz procedure or suture correction for patients in whom conservative treatment failed. MAIN OUTCOME MEASURES: Comparison of symptoms, keratopathy, and recurrence on follow-up between the 2 procedures. RESULTS: The mean age of the patients was 9.0 years, with an age range of 0.5 to 68 years. Of the patients, 51.9% were male. The majority were Chinese (n = 102). Seventy-four (68.5%) patients were symptomatic. Eighty-nine patients (82.4%) had keratopathy. In 98 patients (90.7%) both eyes were affected, and the majority of patients (75.0%) had epiblepharon of the lower lids. Initial treatment for the majority was lubricants (n = 71, 65.7%). The main indications for surgery were symptoms and keratopathy, with 37.9% of patients having both, and 44.4% and 15.7% of patients having either keratopathy or symptoms alone, respectively. Surgical correction consisted mostly of a modified Hotz procedure (n = 88, 81.5%), lid-everting sutures (n = 9, 8.3%), and others, including upper lid blepharoplasty with lid crease formation (n = 11, 10.2%). Outcomes were good, with the majority (n = 88, 81.5%) of lids being well corrected. Complications included undercorrection, overcorrection, wound dehiscence, and wound infections. CONCLUSIONS: Symptomatic epiblepharon, usually associated with keratopathy and commonly seen in children of East Asian descent, often requires surgical intervention with good surgical outcome. Increased awareness among ophthalmologists and pediatricians dealing with this ethnic group and age is emphasized. Contrary to the current practice of expectant observation, definitive surgical management should be considered when symptoms or keratopathy is present. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.

Central corneal thickness (CCT) is one of the most heritable human traits, with broad-sense heritability estimates ranging between 0.68 to 0.95. Despite the high heritability and numerous previous association studies, only 8.5% of CCT variance is currently explained. Here, we report the results of a multiethnic meta-analysis of available genome-wide association studies in which we find association between CCT and 98 genomic loci, of which 41 are novel. Among these loci, 20 were significantly associated with keratoconus, and one (RAPSN rs3740685) was significantly associated with glaucoma after Bonferroni correction. Two-sample Mendelian randomization analysis suggests that thinner CCT does not causally increase the risk of primary open-angle glaucoma. This large CCT study explains up to 14.2% of CCT variance and increases substantially our understanding of the etiology of CCT variation. This may open new avenues of investigation into human ocular traits and their relationship to the risk of vision disorders.

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.

Techniques for Learning Descemet Membrane Endothelial Keratoplasty for Eyes of Asian Patients With Shallow Anterior Chamber.

PURPOSE: To describe several essential surgical techniques that overcome difficulties in performing Descemet membrane endothelial keratoplasty (DMEK) for inexperienced surgeons, especially those who perform DMEK on eyes of Asian patients. METHODS: Nine eyes of 9 Asian patients with bullous keratopathy who underwent DMEK were analyzed retrospectively. All patients were given a diuretic such as D-mannitol or acetazolamide shortly before surgery, with retrobulbar anesthesia and a Nadbath facial nerve block. Core vitrectomy before DMEK was performed in several cases in which a high vitreous pressure during surgery was predicted. The donor graft was stained with trypan blue, and a 25-G anterior chamber maintenance cannula was used to maintain the anterior chamber depth during graft insertion in all eyes. RESULTS: The cornea became clear in all eyes. The best spectacle-corrected visual acuity had improved significantly 6 months after the surgery compared with preoperative values (P = 0.026). The corneal endothelial cell density was 1371 cells per square millimeter at postoperative 6 months. CONCLUSIONS: Although DMEK is technically difficult, especially for inexperienced surgeons who operate on eyes of Asian patients, controlling anterior chamber pressure using various manipulations may help to prevent iatrogenic primary graft failure and lead to successful DMEK.

Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24.

PURPOSE: To map the gene that causes brittle cornea syndrome (BCS). METHODS: Five patients from four families, all of Jewish Tunisian origin, were recruited into the study. Four of the five patients had red hair. DNA from the five patients and 104 control chromosomes was typed with seven 16q polymorphic markers surrounding the hair color gene, MC1R. RESULTS: A common haplotype in the homozygous state, comprising five markers spanning 4.7 Mb on chromosome 16q24, was found in all five patients but in none of the control subjects (P < 0.00001). CONCLUSIONS: The gene that causes BCS maps to a 4.7-Mb interval, between the markers D16S3423 and D16S3425 on 16q24.

Racial Disparities in Corneal Transplantation Rates, Complications, and Outcomes.

Corneal transplantation is a common type of tissue transplantation that aims to improve vision or relieve pain. Given the immune privilege of the cornea, the primary graft often has a high success rate, approaching 90%. Despite the good overall outcome of corneal transplantation in various studies, the individual graft survival rate varies, depending on the preoperative diagnosis and donor and recipient factors. Race and ethnicity have been shown to be important in other types of organ transplantation. The aim of this study was to review the available ophthalmic literature regarding any differences in rates and outcomes of corneal transplantation based on ethnicity and race. A small body of evidence suggests that race might be an important risk factor for graft rejection and graft failure. More robust studies are needed to clarify these associations.

Assessment of the anterior structures of eyes in a normal Northern Thai group using the Orbscan II.

OBJECTIVES: To evaluate the anterior structures of the eyes in normal Northern Thais include the corneal topography and thickness, as well as the anterior chamber depth (ACD) and the white-to-white (WTW) using the Orbscan II system. MATERIAL AND METHOD: One hundred and six eyes of 56 normal subjects were investigated using the Orbscan II. The simulated keratometry (SimK), astigmatism, corneal thickness, ACD and WTW were collected. The axial power maps as well as anterior and posterior elevation maps were read and categorized. Corneal thickness was measured in different regions and the pachymetry patterns were classified. RESULTS: The mean SimK was 44.18 (1.41)/43.30 (1.46) diopters (D) and the mean astigmatism was 0.93 (0.58) D. Symmetric bow tie was the most common axial power pattern in the anterior cornea (57.6%), followed by asymmetric bow tie (19.8%), irregular patterns (12.3%), round (9.4%), and oval (0.9%). Incomplete ridge (40.6%) and island (34%) were common elevation patterns observed in the anterior corneal surface, and island (92.5%) was the most common topographic pattern in the posterior. The thinnest point on the cornea had an average thickness of 512.49 (35) micron and was located at an average of 0.43 (0.24) mm from visual axis. In the pachymetry maps, round (47.2%) and oval (45.3%) were common patterns. The mean ACD and WTW was 2.79 (0.35) and 11.61 (0.36) mm, respectively. CONCLUSION: The present study demonstrated the normal variations of anterior segment structures of the eyes in normal Northern Thais using the Orbscan II topography system. This information may be useful for comparison with further quantitative studies of various abnormal states.

Treatment adherence after penetrating corneal transplant in a New Zealand population from 2000 to 2009.

PURPOSE: The aim of this study was to evaluate the extent of nonadherence after penetrating keratoplasty in Auckland, New Zealand, over a 10-year period and to identify predictive variables. METHODS: The New Zealand National Eye Bank records were analyzed for the decade January 1, 2000, to December 31, 2009, inclusive. Variables evaluated included age, gender, ethnicity, proximity to treatment center, level of deprivation, indication for surgery, previous ocular surgery. The number of scheduled appointments offered and attended by each patient was recorded. Outcome measures were appointment compliance and 2-year follow-up completion. RESULTS: Over the study period, 1055 corneal transplant procedures were identified. After applying exclusion criteria, data from 695 penetrating keratoplasty procedures were included in the study. Two-year follow-up information was available for 91.4%, of which 87.8% survived and 77 (12.1%) failed. Over the study period, 1065 (10.5%) appointments were not attended by patients. Appointment compliance was good in 68.5%, moderate in 26.3%, and poor in 4.9%. Maori and Pacific Island ethnicities were observed to be associated with the lowest level of attendance, whereas European and Indian ethnicities were the most likely to complete follow-up. Rates of appointment compliance were greater at private treatment centers (P = 0.009) and inversely associated with proximity to treatment center (P < 0.0001). CONCLUSIONS: The rate of nonattendance reported in this study is considerably higher than that observed in other forms of organ transplantation. Both ethnic and socioeconomic factors seem to have a significant influence on attendance compliance. Strategies to improve adherence should take these factors into account.

Acute corneal hydrops in keratoconus: a national prospective study of incidence and management.

PurposeTo determine incidence and management of acute corneal hydrops in the UK.MethodsWe used the BOSU report card system to survey cases of acute corneal hydrops in patients with keratoconus that occurred in the UK between November 2009 and December 2010. Ophthalmologists who reported a case were sent an initial questionnaire, with a follow-up questionnaire after 6 months. We collected information on the demographics, complications, changes in visual acuity, and management. The 2011 National Census was used as a source for population and ethnicity in the UK.ResultsThere were 73 incident cases of acute corneal hydrops, with a response to the initial questionnaire for 64 (88%) patients and follow-up data at 6 months for 57 (78%) patients. For the 64 confirmed cases the median (interquartile range) age of onset was 31.9 (23.2, 41.3) years and 48 (75%) of the cases occurred in males. A total of 42 (66%) patients were white, 14 (22%) were South Asian, and 7 (11%) were black. The proportion of South Asian and black patients with acute corneal hydrops was significantly higher than in the general population (P<0.001). The minimum estimated annual incidence of acute corneal hydrops in patients with keratoconus was estimated to be 1.43 (1.10, 1.83) per 1000. At 6 months following acute corneal hydrops a decision to proceed with keratoplasty had been made for 12 (20.3%) patients.ConclusionsThis is the first population-based estimate of the incidence of acute corneal hydrops in keratoconus.

Iridocorneal endothelial syndrome in Thai patients: clinical variations.

OBJECTIVE: To evaluate the spectrum of iridocorneal endothelial syndrome, to our knowledge, never studied previously in Orientals. METHODS: From 1986 to 1998, we examined 60 consecutive patients (20 men, 40 women) with characteristic signs of iridocorneal endothelial syndrome and compared the clinical manifestations to those reported in white patients. RESULTS: Cogan-Reese syndrome (CRS) was most common (38 patients), while 14 patients had Chandler syndrome (CS), and 8 had progressive iris atrophy. Three patients initially classified as having CS and 1 as having progressive iris atrophy progressed to CRS. Glaucoma occurred in 46 patients (76.7%), most commonly in patients with progressive iris atrophy or CRS. Ten patients had slow progression of disease during the follow-up period of up to 12 years. Three patients (2 with CRS, 1 with CS) had asymptomatic localized islands of "hammered-silver" appearance and 11 (8 with CRS, 2 with CS, and 1 with progressive iris atrophy) had subclinical abnormal endothelium in the contralateral eyes. A translucent membrane was commonly seen on the brown iris surface. Total endothelial involvement was present in 49 patients, while 6 (4 with CRS, 2 with CS) had focal endothelial abnormalities with sharp demarcation from adjacent normal endothelium. CONCLUSIONS: Iridocorneal endothelial syndrome occurs in Orientals. Cogan-Reese syndrome is the most common form and is strongly associated with glaucoma. Although several clinical manifestations were similar between whites and Orientals (mean age of onset, sex predilection, iris changes, peripheral anterior synechiae formation, or corneal edema), CRS was most prevalent; a translucent membrane were more noticeable in Orientals.

New corneal findings in human T-cell lymphotrophic virus type 1 infection.

PURPOSE: Human T-cell lymphotrophic virus type 1 is a RNA retrovirus that primarily affects CD4+ T-cells. Human T-cell lymphotrophic virus type 1 infection is the established cause of adult T-cell leukemia/lymphoma, an aggressive malignancy of CD4+ T-cells, and two nonneoplastic conditions: human T-cell lymphotrophic virus type 1-associated myelopathy/tropical spastic paraparesis and human T-cell lymphotrophic virus type 1 uveitis. Other reported ophthalmic manifestations of human T-cell lymphotrophic virus type 1 infection include lymphomatous and leukemic infiltrates in the eye and ocular adnexa in patients with adult T-cell leukemia/lymphoma, retinal pigmentary degeneration, and neuro-ophthalmic disorders in patients with human T-cell lymphotrophic virus type 1-associated myelopathy/tropical spastic paraparesis and keratoconjunctivitis sicca, episcleritis, and sclerouveitis in asymptomatic human T-cell lymphotrophic virus type 1 carriers. This report describes the ocular findings in three Jamaican patients with human T-cell lymphotrophic virus type 1 infection and adult T-cell leukemia/lymphoma. METHODS: The clinical records of three patients with human T-cell lymphotrophic virus type 1 infection and adult T-cell leukemia/lymphoma examined at the National Eye Institute were reviewed. Each patient had one or more complete ophthalmic evaluations. RESULTS: All three patients had corneal abnormalities, including corneal haze and central opacities with thinning; bilateral immunoprotein keratopathy; and peripheral corneal thinning, scarring, and neovascularization. All three patients had elevated serum immunoglobulin levels. CONCLUSIONS: We believe that the novel corneal findings in these patients are most likely a consequence of the hypergammaglobulinemia induced by the human T-cell lymphotrophic virus type 1 infection or the T-cell malignancy.

Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature.

Cornea plana may occur in connection with malformations of the eye or of other parts of the body. As an isolated ocular anomaly, it may be inherited in an autosomal recessive or in an autosomal dominant fashion. We have previously mapped genes for both forms of the disease to 12q21. We studied 36 members of three generations of a Black Cuban family with autosomal dominant cornea plana. Three affected males and 11 affected females were examined. Corneal refraction varied between 37.50 and 42.75 diopters. Horizontal corneal diameter ranged from 8.75 to 11.25 mm. The cornea was clear and the limbal zone only occasionally widened. A marked arcus senilis was present in six patients aged 30 to 58 years, but in none of their healthy relatives. The anterior chamber was shallow in those affected, varying in depth from 1.68 to 2.38 mm. One woman was blind from closed-angle glaucoma. The axial length was within normal limits in all patients.

Detection of gonioscopically occludable angles and primary angle closure glaucoma by estimation of limbal chamber depth in Asians: modified grading scheme.

AIM: To evaluate the performance of limbal chamber depth estimation as a means of detecting occludable drainage angles and primary angle closure, with or without glaucoma, in an east Asian population, and determine whether an augmented grading scheme would enhance test performance. METHOD: A two phase, cross sectional, community based study was conducted on rural and urban areas of Hövsgöl and Omnögobi provinces, Mongolia. 1800 subjects aged 40 to 93 years were selected and 1717 (95%) of these were examined. Depth of the anterior chamber at the temporal limbus was graded as a percentage fraction of peripheral corneal thickness. An "occludable" angle was one in which the trabecular meshwork was seen in less than 90 degrees of the angle circumference by gonioscopy. Primary angle closure (PAC) was diagnosed in subjects with an occludable angle and either raised pressure or peripheral anterior synechiae. PAC with glaucoma (PACG) was diagnosed in cases with an occludable angle combined with glaucomatous optic neuropathy and consistent visual morbidity. RESULTS: Occludable angles were identified in 140 subjects, 28 of these had PACG. The 15% grade (equivalent to the traditional "grade 1") yielded sensitivity and specificity of 84% and 86% respectively for the detection of occludable angles. The 5% grade gave sensitivity of 91% and specificity of 93% for the detection of PACG. The interobserver agreement for this augmented grading scheme was good (weighted kappa 0.76). CONCLUSIONS: The traditional limbal chamber depth grading scheme offers good performance for detecting occludable drainage angles in this population. The augmented scheme gives enhanced performance in detection of established PACG. The augmented scheme has potential for good interobserver agreement.