Autosomal dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature.

BACKGROUND: To report a cohort of patients with clinically and genetically diagnosed autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) and showcase the spectrum of the disease utilizing multimodal imaging and genetic testing. Additionally, the utility of multimodal imaging in guiding treatment will also be illustrated. MATERIALS/METHODS: Five patients from a single-family pedigree in Ohio with clinical signs of ADNIV were evaluated. Medical history, family history, and complete ocular examinations were obtained during regular clinic visits. Multimodal imaging including ocular coherence tomography, fluorescein angiography, wide-field fundus photographs, and Humphrey visual field testing was obtained for all five patients. Additionally, genetic testing for the Calpain-5 (CAPN5) gene was conducted on all patients. RESULTS: All five patients were noted to have a CAPN5 c.731T > C (p.L244P) mutation on genetic testing. Using multimodal imaging to supplement the clinical examination, pathologic changes such as retinal vascular inflammation, macular edema, and tractional retinal membranes were well illustrated and monitored over time. This allowed for earlier intervention when appropriate such as with intraocular steroid or systemic anti-inflammatory treatments. CONCLUSION: Phenotypic presentation varied among patients in this series, but is consistent with the spectrum of pathologic changes previously described in patients with other CAPN5 gene mutations. Monitoring of patients with ADNIV utilizing multimodal imaging can help better assess progression of this disease and guide treatment decisions. Additionally, increased genetic testing in patients with inherited retinal diseases may reveal novel gene mutations that could serve as potential targets for future genetic treatment regimens.

Intraocular inflammation secondary to intravitreal brolucizumab treated successfully with Sub-Tenon triamcinolone: A case report.

PURPOSE: To report on a case of successful treatment of intraocular inflammation (IOI) secondary to brolucizumab intravitreal injection that responded to a single sub-Tenon injection of triamcinolone. OBSERVATIONS: An 81-year-old female with a longstanding history of exudative age-related macular degeneration (AMD) was unresponsive to various regimens of anti-VEGF injections. Her AMD was treated with one intravitreal injection of brolucizumab (6mg/0.05ml) into the right eye. On a follow-up visit, she had a new-onset conjunctival injection, with anterior chamber and vitreous inflammation, in the right eye, which was diagnosed as non-granulomatous iridocyclitis. The patient was treated with one posterior sub-Tenon injection of triamcinolone (40mg/ml) into the right eye. Subsequently, there was a durable resolution of inflammation, and her vision improved along with the resolution of her exudation. CONCLUSIONS AND IMPORTANCE: This case suggests that some brolucizumab-related IOI episodes may be treated with posterior sub-Tenon triamcinolone. Further studies may serve to elucidate the role of sub-Tenon triamcinolone in brolucizumab-associated IOI.

Treatment outcomes of macular holes in the setting of uveitis: a scoping review.

OBJECTIVE: We conducted a systematic review to evaluate the outcome of macular hole (MH) treatment in eyes with uveitis. DATA SOURCE: We searched PubMed and Embase databases from inception through August 15, 2021. STUDY SELECTION: We included eyes with MHs secondary to uveitis that were managed medically or underwent pars plana vitrectomy (PPV). We excluded eyes with idiopathic MH and those secondary to causes other than uveitis. RESULTS: Of 27 articles, we identified 86 eyes with MH secondary to uveitis that received either conservative medical treatment alone or PPV with adequate follow-up. The mean (± SD) age of patients included in this review was 46.6 (± 16.8) years; 60.5% were males. The most common etiology of uveitis was Behçet's disease (34.6%) and toxoplasmosis (19.7%). The most common anatomical location of uveitis was posterior (59.3%) followed by panuveitis (35.2%). The mean (± SD) baseline LogMAR vision was 1.1 (± 0.5). Conservative medical treatment was employed in 34.9%, while PPV was performed in 65.1% of eyes. Overall, the mean (SD) LogMAR vision improved from 1.1 (± 0.5) at baseline to 0.7 (± 0.5) after treatment. Inflammation-related MHs were closed in 40% of eyes after conservative therapy and in 87.5% of eyes after PPV. Visual improvement occurred in most eyes (83.9%) that had successful closure of their MH. CONCLUSIONS: Visual improvement occurs in most eyes that had successful closure of their inflammation-related MH. Conservative medical control of uveitis may lead to closure of inflammation-related MHs and is an important step prior to surgery, if required. Surgical intervention for inflammation-related MHs is associated with good functional and anatomical results.

Posterior Polar Hemispheric Choroidal Dystrophy: Case Report and Presentation of Genetic Screening.

Purpose: Posterior polar hemispheric choroidal dystrophy is a rare dystrophy affecting the choroid and retina with a characteristic clinical appearance that distinguishes it from a broad variety of other retinal diseases. The disease process has a morphology described in the literature that preferentially affects the outer macula and spares the fovea with no arteriolar attenuation or optic nerve pallor. Methods: This case report illustrates the use of multimodal retinal imaging, visual field testing, electroretinogram, and genetic testing of a patient who we believe fits the clinical pattern established by previous studies describing this condition. Results: Fundus imaging in addition to further imaging modalities such as fluorescein angiography helped further characterize this disease process and aided in the diagnosis. In addition, genetic testing revealed unique allele variants found in this patient. Conclusions: By taking a multifaceted approach to the diagnosis of retinal pathology, clinicians can make informed decisions regarding patient care.

Fasting-Evoked En Route Hypoglycemia in Diabetes (FEEHD): An Overlooked Form of Hypoglycemia in Clinical Practice.

OBJECTIVE: Many patients with diabetes opt to fast for lab tests, especially for lipid profiles, thus missing breakfast. In parallel, recent studies and international guidelines have indicated that routine fasting for lipid panels may not be necessary. Missing breakfast while fasting for lab tests may invoke hypoglycemia, if patients are not properly instructed about adjusting diabetes medications on the night before or on the day of the lab test. Our group described this form of hypoglycemia and introduced the term FEEHD to refer to it (fasting-evoked en route hypoglycemia in diabetes). In a recently published small study, we reported a rate of occurrence of FEEHD of 27.1%. The objective of this study was to evaluate the rate of occurrence of FEEHD in another clinic. METHODS: Patients with diabetes were asked to complete a simple, 2-page survey inquiring about hypoglycemic events while fasting for labs in the preceding 12 months. RESULTS: A total of 525 patients completed the surveys out of 572 patients invited (91.8% response rate). A total of 363 patients with complete data were analyzed, with a mean age of 60.6 (SD 12.5) years. A total of 62 (17.1%) patients reported having experienced one or more FEEHD events in the prior 12 months. Of the 269 patients who were at higher risk of FEEHD (on insulin secretagogues or on insulin), 59 (21.9%) reported having experienced FEEHD. Only 33 of FEEHD patients (53%) recalled having contacted their provider regarding the events and only 22 (35%) indicated having received some sort of FEEHD prevention instructions. CONCLUSION: Our study shows a significant rate of occurrence of FEEHD in the real world (a clinical practice). FEEHD is especially dangerous, as patients often commute (drive) to and from the laboratory facility (potential risk of traffic accidents). Given study limitations, further studies are needed to assess prevalence of FEEHD in other settings and in the general populations.