Recurrent Macular Detachment and Retinoschisis Associated with Intrachoroidal Cavitation in a Normal Eye

Purpose: To describe a patient with intrachoroidal cavitation in the normal eye that caused self-limiting recurrent macular detachment and retinoschisis. Case Report: An 80-year-old female patient with intrachoroidal cavitation in the normal eye presented with macular detachment and retinoschisis after cataract surgery. These were treated with intravitreal bevacizumab and then absorbed within 9 months. One year after cataract surgery, the patient presented with macular detachment and retinoschisis in the same eye again. These were absorbed within 4 months without treatment. Conclusion: This case suggests that similar cases of cystoid macular edema after cataract surgery can occur, and that intrachoroidal cavitation is observed not only in eyes with pathologic myopia but also in normal eyes with peripapillary atrophy; intrachoroidal cavitation can cause macular detachment and retinoschisis

Quantitative Retinal Optical Coherence Tomography Angiography in Patients With Diabetes Without Diabetic Retinopathy

PURPOSE. To compare optical coherence tomography (OCT) angiographic parameters in retina and choriocapillaris between control subjects and diabetic patients without diabetic retinopathy (NDR). Correlations were studied between OCT angiography parameters, retinal structure parameters, and systemic characteristics in all subjects. METHODS. Sixty-two patients were included in the study: control subjects (n ¼ 33) and patients with NDR (n ¼ 29). Optical coherence topography angiographic parameters were as follows: vessel density (%) (in superficial, deep retinal vessel plexus and in choriocapillary layer) and foveal avascular zone (FAZ) area (mm 2 ) in superficial and deep retinal vessel plexus of parafovea. Split-spectrum amplitude decorrelation angiography (SSADA) software algorithm was used for evaluation of vessel density and FAZ area (nonflow area tool). Spectral-domain OCT was used to assess full, inner, and outer retinal thickness and volume in parafovea. RESULTS. In superficial and deep retina, vessel densities in NDR (44.35% 6 13.31% and 31.03% 6 16.33%) were decreased as compared to control subjects (51.39% 6 13.05%, P ¼ 0.04; and 41.53% 6 14.08%, P < 0.01). Foveal avascular zone in superficial retina of NDR patients (0.37 6 0.11 mm 2 ) was greater than in controls (0.31 6 0.10 mm 2 , P ¼ 0.02). Superficial vessel density significantly correlated with full retinal thickness and volume in parafovea (r ¼ 0.43, P ¼ 0.01; r ¼ 0.43, P ¼ 0.01) and with outer retinal volume in parafovea (r ¼ 0.35, P < 0.05) of healthy subjects. Systolic blood pressure and ocular perfusion pressure significantly correlated with deep vessel density in NDR (r ¼ À0.45, P ¼ 0.02; r ¼ À0.46, P ¼ 0.01), but not in controls. CONCLUSIONS. Superficial and deep retinal vessel density in parafovea of diabetic patients without diabetic retinopathy are both decreased compared to healthy subjects. The associations between vessel density with retinal tissue thickness and with subject's clinical characteristics differ between healthy subjects and patients with NDR

MAJOR REVIEW Assessment of True Intraocular Pressure: The Gap Between Theory and Practical Data

Abstract. A precise assessment of the intraocular pressure (IOP) is crucial for diagnosis and decision making regarding treatment modalities in patients with glaucoma. Recent epidemiologic studies show that a difference of only 1 mm Hg in the mean IOP may be critical enough to determine the visual field prognosis in patients with glaucoma. However, the Goldmann applanation tonometer, which is current gold standard, is not precise enough to measure the true IOP within an error of 1 mm Hg. There are many clinically proposed correction algorithms to correctly measure IOP. However, corrections using only the central corneal thickness and curvature may not be sufficient in each individual case. In this article, previously reported theoretical equations about the effects of corneal topography, modulus of elasticity, and tear film on Goldmann applanation tonometric IOP readings were reviewed, and their discrepancies with clinical or experimental data were analyzed. Thereafter, new tonometers such as the dynamic contour tonometer, the rebound tonometer, and the ocular response analyzer were compared with the Goldmann applanation tonometer and other popular tonometers. (Surv Ophthalmol 53:203--218, 2008. Ó 2008 Elsevier Inc. All rights reserved.) Key words. corneal thickness corneal topography correction algorithm glaucoma intraocular pressure modulus of elasticity refractive surgery tonomete

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease

Association of Rare CYP39A1 Variants with Exfoliation Syndrome Involving the Anterior Chamber of the Eye

IMPORTANCE: Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye. This disorder is the most commonly known cause of glaucoma and a major cause of irreversible blindness. OBJECTIVE: To determine if exfoliation syndrome is associated with rare, protein-changing variants predicted to impair protein function. DESIGN, SETTING, AND PARTICIPANTS: A 2-stage, case-control, whole-exome sequencing association study with a discovery cohort and 2 independently ascertained validation cohorts. Study participants from 14 countries were enrolled between February 1999 and December 2019. The date of last clinical follow-up was December 2019. Affected individuals had exfoliation material on anterior segment structures of at least 1 eye as visualized by slit lamp examination. Unaffected individuals had no signs of exfoliation syndrome. EXPOSURES: Rare, coding-sequence genetic variants predicted to be damaging by bioinformatic algorithms trained to recognize alterations that impair protein function. MAIN OUTCOMES AND MEASURES: The primary outcome was the presence of exfoliation syndrome. Exome-wide significance for detected variants was defined as P < 2.5 × 10(−6). The secondary outcomes included biochemical enzymatic assays and gene expression analyses. RESULTS: The discovery cohort included 4028 participants with exfoliation syndrome (median age, 78 years [interquartile range, 73-83 years]; 2377 [59.0%] women) and 5638 participants without exfoliation syndrome (median age, 72 years [interquartile range, 65-78 years]; 3159 [56.0%] women). In the discovery cohort, persons with exfoliation syndrome, compared with those without exfoliation syndrome, were significantly more likely to carry damaging CYP39A1 variants (1.3% vs 0.30%, respectively; odds ratio, 3.55 [95% CI, 2.07-6.10]; P = 6.1 × 10(−7)). This outcome was validated in 2 independent cohorts. The first validation cohort included 2337 individuals with exfoliation syndrome (median age, 74 years; 1132 women; n = 1934 with demographic data) and 2813 individuals without exfoliation syndrome (median age, 72 years; 1287 women; n = 2421 with demographic data). The second validation cohort included 1663 individuals with exfoliation syndrome (median age, 75 years; 587 women; n = 1064 with demographic data) and 3962 individuals without exfoliation syndrome (median age, 74 years; 951 women; n = 1555 with demographic data). Of the individuals from both validation cohorts, 5.2% with exfoliation syndrome carried CYP39A1 damaging alleles vs 3.1% without exfoliation syndrome (odds ratio, 1.82 [95% CI, 1.47-2.26]; P < .001). Biochemical assays classified 34 of 42 damaging CYP39A1 alleles as functionally deficient (median reduction in enzymatic activity compared with wild-type CYP39A1, 94.4% [interquartile range, 78.7%-98.2%] for the 34 deficient variants). CYP39A1 transcript expression was 47% lower (95% CI, 30%-64% lower; P < .001) in ciliary body tissues from individuals with exfoliation syndrome compared with individuals without exfoliation syndrome. CONCLUSIONS AND RELEVANCE: In this whole-exome sequencing case-control study, presence of exfoliation syndrome was significantly associated with carriage of functionally deficient CYP39A1 sequence variants. Further research is needed to understand the clinical implications of these findings

A common variant mapping to <i>CACNA1A </i>is associated with susceptibility to exfoliation syndrome

Author manuscript available from PMC http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4605818/Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10−11). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: ORA allele = 9.87, P = 2.13 × 10−217; non-Japanese: ORA allele = 0.49, P = 2.35 × 10−31). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease