Association Between Fuchs Endothelial Corneal Dystrophy, Diabetes Mellitus, and Multimorbidity.

PURPOSE: The aim of this study was to assess risk for demographic variables and other health conditions that are associated with Fuchs endothelial corneal dystrophy (FECD). METHODS: We developed a FECD case-control algorithm based on structured electronic health record data and confirmed accuracy by individual review of charts at 3 Veterans Affairs (VA) Medical Centers. This algorithm was applied to the Department of VA Million Veteran Program cohort from whom sex, genetic ancestry, comorbidities, diagnostic phecodes, and laboratory values were extracted. Single-variable and multiple variable logistic regression models were used to determine the association of these risk factors with FECD diagnosis. RESULTS: Being a FECD case was associated with female sex, European genetic ancestry, and a greater number of comorbidities. Of 1417 diagnostic phecodes evaluated, 213 had a significant association with FECD, falling in both ocular and nonocular conditions, including diabetes mellitus (DM). Five of 69 laboratory values were associated with FECD, with the direction of change for 4 being consistent with DM. Insulin dependency and type 1 DM raised risk to a greater degree than type 2 DM, like other microvascular diabetic complications. CONCLUSIONS: Female sex, European ancestry, and multimorbidity increased FECD risk. Endocrine/metabolic clinic encounter codes and altered patterns of laboratory values support DM increasing FECD risk. Our results evoke a threshold model in which the FECD phenotype is intensified by DM and potentially other health conditions that alter corneal physiology. Further studies to better understand the relationship between FECD and DM are indicated and may help identify opportunities for slowing FECD progression.

Glaucoma Genetic Risk Scores in the Million Veteran Program.

PURPOSE: Primary open-angle glaucoma (POAG) is a degenerative eye disease for which early treatment is critical to mitigate visual impairment and irreversible blindness. POAG-associated loci individually confer incremental risk. Genetic risk score(s) (GRS) could enable POAG risk stratification. Despite significantly higher POAG burden among individuals of African ancestry (AFR), GRS are limited in this population. A recent large-scale, multi-ancestry meta-analysis identified 127 POAG-associated loci and calculated cross-ancestry and ancestry-specific effect estimates, including in European ancestry (EUR) and AFR individuals. We assessed the utility of the 127-variant GRS for POAG risk stratification in EUR and AFR Veterans in the Million Veteran Program (MVP). We also explored the association between GRS and documented invasive glaucoma surgery (IGS). DESIGN: Cross-sectional study. PARTICIPANTS: MVP Veterans with imputed genetic data, including 5830 POAG cases (445 with IGS documented in the electronic health record) and 64 476 controls. METHODS: We tested unweighted and weighted GRS of 127 published risk variants in EUR (3382 cases and 58 811 controls) and AFR (2448 cases and 5665 controls) Veterans in the MVP. Weighted GRS were calculated using effect estimates from the most recently published report of cross-ancestry and ancestry-specific meta-analyses. We also evaluated GRS in POAG cases with documented IGS. MAIN OUTCOME MEASURES: Performance of 127-variant GRS in EUR and AFR Veterans for POAG risk stratification and association with documented IGS. RESULTS: GRS were significantly associated with POAG (P < 5 × 10-5) in both groups; a higher proportion of EUR compared with AFR were consistently categorized in the top GRS decile (21.9%-23.6% and 12.9%-14.5%, respectively). Only GRS weighted by ancestry-specific effect estimates were associated with IGS documentation in AFR cases; all GRS types were associated with IGS in EUR cases. CONCLUSIONS: Varied performance of the GRS for POAG risk stratification and documented IGS association in EUR and AFR Veterans highlights (1) the complex risk architecture of POAG, (2) the importance of diverse representation in genomics studies that inform GRS construction and evaluation, and (3) the necessity of expanding diverse POAG-related genomic data so that GRS can equitably aid in screening individuals at high risk of POAG and who may require more aggressive treatment.

Development and Evaluation of a Rules-based Algorithm for Primary Open-Angle Glaucoma in the VA Million Veteran Program.

The availability of electronic health record (EHR)-linked biobank data for research presents opportunities to better understand complex ocular diseases. Developing accurate computable phenotypes for ocular diseases for which gold standard diagnosis includes imaging remains inaccessible in most biobank-linked EHRs. The objective of this study was to develop and validate a computable phenotype to identify primary open-angle glaucoma (POAG) through accessing the Department of Veterans Affairs (VA) Computerized Patient Record System (CPRS) and Million Veteran Program (MVP) biobank. Accessing CPRS clinical ophthalmology data from VA Medical Center Eye Clinic (VAMCEC) patients, we developed and iteratively refined POAG case and control algorithms based on clinical, prescription, and structured diagnosis data (ICD-CM codes). Refinement was performed via detailed chart review, initially at a single VAMCEC (n = 200) and validated at two additional VAMCECs (n = 100 each). Positive and negative predictive values (PPV, NPV) were computed as the proportion of CPRS patients correctly classified with POAG or without POAG, respectively, by the algorithms, validated by ophthalmologists and optometrists with access to gold-standard clinical diagnosis data. The final algorithms performed better than previously reported approaches in assuring the accuracy and reproducibility of POAG classification (PPV >83% and NPV >97%) with consistent performance in Black or African American and in White Veterans. Applied to the MVP to identify cases and controls, genetic analysis of a known POAG-associated locus further validated the algorithms. We conclude that ours is a viable approach to use combined EHR-genetic data to study patients with complex diseases that require imaging confirmation.

Frontoethmoidal mucocele presenting with ocular manifestations.

Mucocele of the paranasal sinuses is a slowly expanding benign lesion developing when there is impeded physiological drainage of the mucous produced by the epithelial lining of the paranasal sinuses, at the sinus ostium, which is an opening that connects the sinus to the nasal cavity. Aetiologies of ostial occlusion include infection, allergy, trauma, previous surgery, benign neoplasm (osteoma or fibrous dysplasia), and malignant or metastatic tumours. Mucoceles commonly develop in the frontal sinus (70-80 per cent), followed by the ethmoid (25 per cent), frontoethmoidal (10-14 per cent), and maxillary (three per cent or less) sinuses. The most common manifestations in these cases are ocular oedema, proptosis (22-83 per cent), and diplopia (28 per cent). Due to these ocular signs and symptoms, the optometrist may be first in line managing paranasal sinus disease patients, reducing the risk of permanent damage. A case report and review of frontoethmoidal mucocele will be discussed in this report, to include the role of the optometrist in its management and treatment.

Papilloedema secondary to oligodendroglioma.

Oligodendrogliomas are rare slow-growing asymptomatic glial tumours that usually present in patients in their fourth to sixth decades of life. Neurological symptoms that may present include nausea, headache, vomiting, diplopia, confusion, focal weakness, numbness and seizures. The treatment of oligodendroglioma tumours is based on functional status classification, lumbar puncture, imaging of the head, tumour biopsy and genetic testing. Grades II and IV oligodendroglial tumours, which have co-deletion of the short arm of chromosome 1 (1p) and the long arm of chromosome 19 (19q) and mutations in isocitrate dehydrogenase, have the most favourable prognosis, as they respond well to neurosurgery and chemotherapy. This report will discuss a general case of papilloedema in a young patient with oligodendroglioma and the role of the optometrist in its post-neurosurgical and chemotherapeutic care.

Granular corneal dystrophy: a novel approach to classification and treatment.

PURPOSE: The purpose of this case report is to review granular corneal dystrophy (GCD) and examine the new paradigm in its classification and treatment. CASE REPORT: A 49-year-old white male patient reported yearly for monitoring of GCD. He had an ocular surgical history in the left eye for penetrating keratoplasty in 1989 and phototherapeutic keratectomy with mitomycin C for graft recurrence of stromal bread-crumb opacities 17+ years later in 2002. At his last examination, the patient's vision and comfort was stable in each eye, with minimal recurrence of granular opacities in the left surgical eye, stable granular opacities in the right eye, no recurrent corneal erosion symptoms in either eye, and best spectacle-corrected vision of 20/40 OD and 20/30 OS. CONCLUSIONS: GCD is a Category 1, Stromal, TGFBI-associated corneal dystrophy. Although it is classified as a stromal dystrophy, research suggests the possibility that the granular opacities have an origination to the corneal epithelium with a migratory effect to the corneal stroma. Patients with Groenouw I, like the one in this report, usually do not have severely compromised vision. When vision is significantly affected or recurrent corneal erosion occurs, despite first- and second-line treatments, viable management options thereafter include photokeratectomy and other new surgical treatments such as femtosecond deep anterior lamellar keratoplasty and femtosecond laser-assisted keratoplasty. Future advancements in diagnostic technology, immunohistologic and genetic testing, medications, and surgery will allow for advancements in treating and managing patients with GCD.

Toric soft contact lens fit in a postoperative LASIK keratoectasia patient with high and irregular astigmatism.

BACKGROUND: Keratoectasia is a rare but well-known complication after laser-assisted in situ keratomileusis (LASIK). Patients with this condition can have high and irregular astigmatism. When the treatment of the high astigmatic correction cannot be accomplished surgically or when the keratoectasia patient rejects surgical enhancement, optical correction with devices such as soft or rigid gas-permeable contact lenses may be pursued. In fact, toric soft contact lenses are a good first option for fitting postoperative keratoectasia patients. CASE REPORT: A 58-year-old white male presented for an examination with a complaint of decreased distance vision in the right eye (OD) after having traditional LASIK for myopia with astigmatism in both eyes (OU) in 1999 and limbal relaxing incision enhancement OD in 2003. Refraction showed high mixed astigmatism OD (+1.75 -5.75×075). Slit lamp examination found irregularity of the cornea, evidenced by an inferior cone with pigmented Fleischer ring OD. Video keratometry had keratometry readings of 43.50 at 160, 39.87 at 070, elevated shape measure (0.40), elevated corneal irregularity measure (3.96), an inferior cone on the elevation map, and asymmetric bowtie with elongation inferonasally on the axial map, which confirmed the diagnosis of postoperative keratoectasia. Because new surgical treatments at that time for corneal ectasia were in their infancy and not approved by the U.S. Food and Drug Administration, the patient opted for a trial toric soft contact lens fitting, which improved his corrected distance visual acuity to 20/25. CONCLUSION: This case report confirms that toric soft contact lenses are a good first choice in fitting patients with high and irregular astigmatism from postoperative LASIK corneal ectasia. It also confirms that excellent vision and comfort with toric soft contact lenses is possible in these patients.

Xerophthalmia secondary to alcohol-induced malnutrition.

BACKGROUND: Xerophthalmia refers to the ocular manifestations associated with vitamin A deficiency. Vitamin A deficiency can be caused by numerous disorders, including alcohol-induced malnutrition. The ocular manifestations of xerophthalmia include conjunctival and corneal xerosis (drying), keratomalacia (corneal necrosis/ulceration), nyctalopia (night blindness), and Bitot's spots (conjunctival lesions). CASE REPORT: A 47-year-old white male with complaints of dryness and difficulty seeing at night presented to our clinic for consultation from general medicine to rule out xerophthalmia. Laboratory testing and general medicine, psychiatry, and nutrition evaluations confirmed the systemic diagnosis of alcohol-induced malnutrition. He admits that his alcoholism was induced by depression. Confirmed associated disorders compounding the malnutrition include alcoholic cirrhosis, protein deficiency, and megaloblastic anemia. The patient had xerophthalmia diagnosed in the optometry clinic as a result of symptoms, slit lamp examination signs, and the associated disorders. The associated disorders were treated with systemic medications and vitamins. Ophthalmic treatment consisted of carboxymethylcellulose-based artificial tears. CONCLUSIONS: Although xerophthalmia and vitamin A deficiency are more common in underdeveloped countries, their presentation in the United States may be induced by conditions such as liver cirrhosis, malnutrition, and alcoholism. This report summarizes ocular manifestations of alcoholism and presents a case of xerophthalmia secondary to alcohol-induced malnutrition and the role of optometry in its treatment and management.

Purtscher's retinopathy.

BACKGROUND: Purtscher's retinopathy (a.k.a. angiopathia retinae traumatica) is a traumatic angiopathy, most commonly caused by head and chest trauma. The most-prevalent bilateral retinal signs include white ischemic infarcts (cotton-wool spots or Purtscher-flecken) and hemorrhages (dot and blot, pre-retinal, or flame). The prognosis for patients with decreased vision is unpredictable. CASE REPORT: A 19-year-old man came to the Louis Stokes Cleveland Veterans Administration Optometry Clinic for a consultation to rule out ocular anomalies associated with a motor vehicle accident. The patient was diagnosed with Purtscher's retinopathy in the right eye due to cotton-wool spots observed during fundus examination, an air embolism discovered on chest X-ray, and a history of head/chest trauma. All signs and symptoms had resolved by 1-month follow-up examination. The patient's visual acuity resolved to 20/30 in the right eye. CONCLUSIONS: Purtscher's retinopathy is a traumatic angiopathy with an uncertain pathophysiology. A case report and review are presented, and the role of optometry in its management is discussed.