Rare genetic variation in VE-PTP is associated with central serous chorioretinopathy, venous dysfunction and glaucoma.

Central serous chorioretinopathy (CSC) is a fluid maculopathy whose etiology is not well understood. Abnormal choroidal veins in CSC patients have been shown to have similarities with varicose veins. To identify potential mechanisms, we analyzed genotype data from 1,477 CSC patients and 455,449 controls in FinnGen. We identified an association for a low-frequency (AF=0.5%) missense variant (rs113791087) in the gene encoding vascular endothelial protein tyrosine phosphatase (VE-PTP) (OR=2.85, P=4.5×10-9). This was confirmed in a meta-analysis of 2,452 CSC patients and 865,767 controls from 4 studies (OR=3.06, P=7.4×10-15). Rs113791087 was associated with a 56% higher prevalence of retinal abnormalities (35.3% vs 22.6%, P=8.0×10-4) in 708 UK Biobank participants and, surprisingly, with varicose veins (OR=1.31, P=2.3×10-11) and glaucoma (OR=0.82, P=6.9×10-9). Predicted loss-of-function variants in VEPTP, though rare in number, were associated with CSC in All of Us (OR=17.10, P=0.018). These findings highlight the significance of VE-PTP in diverse ocular and systemic vascular diseases.

Impact of phacoemulsification on posterior vitreous detachment formation in eyes with vitreomacular traction.

Purpose: To investigate the impact of phacoemulsification on posterior vitreous detachment formation in eyes with vitreomacular traction (VMT) with or without macular holes. Methods: A retrospective search of the medical records was conducted to identify patients with VMT who underwent cataract surgery at Mass Eye and Ear from 2016 to 2021. Patient demographics, ocular comorbidities, and clinical characteristics were extracted from the record, and optical coherence tomography images were assessed to confirm VMT and the presence of a lamellar or full-thickness macular hole (FMTH). Patients who underwent vitrectomy prior to cataract surgery were excluded. Results: A total of 22 patients (15 women [68%]) met inclusion criteria (average age, 71 years). Fifteen eyes had an associated epiretinal membrane (63%), 7 had a lamellar hole (29%), and 8 had an FTMH (33%). Epiretinal membrane was present in 3 of 7 eyes with lamellar holes (43%) and 4 of 8 with a FTMH (50%). No eyes developed a complete posterior vitreous detachment following phacoemulsification. In 2 cases, there was progression of the macular hole stage following phacoemulsification. Ten eyes underwent subsequent pars plana vitrectomy (PPV). There was no statistically significant difference in visual acuity between eyes pre- and post-phacoemulsification; however, there was a statistically significant improvement in visual acuity pre- and post-PPV. Conclusions: Unlike other studies, in this case series of 24 eyes with VMT or VMT with holes, no cases of full posterior vitreous detachment occurred following unremarkable phacoemulsification or YAG capsulotomy.

SPONTANEOUS CLOSURE AND RECURRENT OPENING TIMES TWO OF A MACULAR HOLE IN A SURGICALLY NAIVE EYE.

PURPOSE: To report a case of an idiopathic macular hole with recurrent opening and spontaneous closure in a surgically naive eye. METHODS: A retrospective review of medical records was performed in addition to a review of the current literature. RESULTS: An 82-year-old man was referred for the management of a full-thickness macular hole in the right eye. Visual acuity was 20/60, and dilated fundus examination was notable for a posterior vitreous detachment, macular hole, and mild epiretinal membrane. Optical coherence tomography confirmed the presence of a full-thickness macular hole. The patient declined surgical intervention and elected to observe. Five weeks later, optical coherence tomography confirmed spontaneous closure. One year later, a recurrent partial thickness outer retinal hole was noted on dilated fundus examination and optical coherence tomography that subsequently spontaneously closed for the second time. The following year, the patient represented with a new scotoma and metamorphopsia and was found to have a full-thickness macular hole. This time the patient was elected for surgical intervention (25-gauge pars plana vitrectomy, epiretinal membrane peel, and 14% C3F8), resulting in closure of the macular hole and improvement in visual acuity to 20/25+1. CONCLUSION: This case highlights a rare presentation of a see-saw pattern of opening and closing of a macular hole in a treatment-naive eye. The presence of a posterior vitreous detachment and epiretinal membrane suggests that other factors than anterior-posterior and tangential traction may be a contributing in the formation and closure of idiopathic macular holes.

Impact of contact versus non-contact wide-angle viewing systems on outcomes of primary retinal detachment repair (PRO study report number 5).

BACKGROUND/AIMS: Vitrectomy to repair retinal detachment is often performed with either non-contact wide-angle viewing systems or wide-angle contact viewing systems. The purpose of this study is to assess whether the viewing system used is associated with any differences in surgical outcomes of vitrectomy for primary non-complex retinal detachment repair. METHODS: This is a multicenter, interventional, retrospective, comparative study. Eyes that underwent non-complex primary retinal detachment repair by either pars plana vitrectomy (PPV) alone or in combination with scleral buckle/PPV in 2015 were evaluated. The viewing system at the time of the retinal detachment repair was identified and preoperative patient characteristics, intraoperative findings and postoperative outcomes were recorded. RESULTS: A total of 2256 eyes were included in our analysis. Of those, 1893 surgeries used a non-contact viewing system, while 363 used a contact lens system. There was no statistically significant difference in single surgery anatomic success at 3 months (p=0.72), or final anatomic success (p=0.40). Average postoperative visual acuity for the contact-based cases was logMAR 0.345 (20/44 Snellen equivalent) compared with 0.475 (20/60 Snellen equivalent) for non-contact (p=0.001). After controlling for numerous confounding variables in multivariable analysis, viewing system choice was no longer statistically significant (p=0.097). CONCLUSION: There was no statistically significant difference in anatomic success achieved for primary retinal detachment repair when comparing non-contact viewing systems to contact lens systems. Postoperative visual acuity was better in the contact-based group but this was not statistically significant when confounding factors were controlled for.

Small Benign Storiform Fibrous Tumor (Fibrous Histiocytoma) of the Conjunctival Substantia Propria in a Child: Review and Clarification of Biologic Behavior.

PURPOSE: A case of a small benign storiform fibrous tumor of the conjunctival substantia propria is described to clarify the category of fibrous histiocytoma. In addition, a comparison of the various spindle cell tumors of the conjunctival substantia propria is explored. METHODS: The patient underwent a complete tumor excision, and the specimen was analyzed by histopathologic and immunohistochemical investigations. RESULTS: A cellular mass, composed solely of spindle cells in a storiform pattern without a component of histiocytic cells, was found beneath an undisturbed nonkeratinizing squamous epithelium and was separated from the epithelium by a grenz zone of uninvolved collagen. The lesion was sharply demarcated but not encapsulated. The Masson trichrome stain revealed scant deposition of intercellular collagen. The reticulin stain displayed numerous and delicate wiry fibers between the tumor cells and encircling capillaries. The Alcian blue stain demonstrated faint positivity in the interstitium. Immunohistochemistry revealed positivity for vimentin, factor XIIIa, smooth muscle actin, CD10, and CD45. Negative stains were obtained for CD34, CD56, S100, desmin, and Ki67. CONCLUSIONS: The broad term of fibrous histiocytoma should be reserved for deep fibroblastic spindle cell tumors (e.g., those of the orbit) that display an aggressive behavior. More benign superficial spindle cell tumors of the dermis are now preferentially characterized as dermatofibromas. It is suggested that equally benign epibulbar tumors should no longer be designated as fibrous histiocytomas but rather as benign storiform fibrous tumors. Tumors completely composed of polygonal histiocytoid (epithelioid) cells that are CD34+ should be excluded from the benign storiform fibrous tumor category. Positive smooth muscle actin and factor XIIIa staining in conjunction with negative staining for CD34 and desmin in the current spindled tumor cells are findings consistent with those of cutaneous dermatofibromas. Both the epibulbar and dermal spindle cell lesions have displayed an indolent and nonaggressive behavior. Microscopically they contain a high proportion of dendrocytic stellate cells that are either factor XIIIa+ or XIIIa-. Given the anatomic differences between the dermis and conjunctiva, the term dermatofibroma is inappropriate for the current tumor; instead the term benign storiform fibrous tumor has been proposed for superficial tumors of the conjunctiva.

Bilateral epibulbar pseudorheumatoid nodulosis with a review of ocular adnexal palisading granulomas.

We describe the clinical, histopathologic, and immunohistochemical characteristics of episcleral/conjunctival pseudorheumatoid nodulosis, a new granulomatous entity that belongs among a group of related lesions. Specifically, pseudorheumatoid nodulosis should be differentiated from solitary rheumatoid nodules, rheumatoid nodulosis, accelerated rheumatoid nodules and nodulosis, and solitary pseudorheumatoid nodules. A 53-year-old man presented with bilateral painless, large, faintly yellow-gray, partially immobile, solid, circumscribed, and occasionally confluent episcleral nodules of several months' duration. He had never had clinical rheumatoid arthritis and was rheumatoid factor negative. Biopsy revealed multiple, merging episcleral/conjunctival, nonulcerated, palisading granulomas with variably sized central zones of necrobiosis of collagen. Abundant palisading CD68/163 + histiocytes admixed with fibroblasts surrounded the necrobiotic foci, which failed to stain with Alcian blue for mucopolysaccharides. No fibrinoid deposits were detected. Numerous CD3+ T lymphocytes, fewer CD 20 + B lymphocytes, and a smaller subpopulation of CD138 + plasma cells were present. Numerous CD1a + Langerhans cells were scattered among the palisading histiocytes and overlying epithelium. Immunohistochemical stains for immunoglobulins revealed concentrations of IgG, IgM, and IgA, but not IgE, in the necrobiotic zones. Special stains did not reveal evidence of infection nor did polarization microscopy display any foreign material. An extensive systemic and serologic workup was negative. We review simulating palisading or other nonrheumatic granulomas that should be distinguished from pseudorheumatoid nodules or nodulosis and explore therapeutic options.

Ganglion Cell Complex Loss in Chiasmal Compression by Brain Tumors.

BACKGROUND: Patterns of ganglion cell complex (GCC) loss detected by optical coherence tomography provide an objective measure of optic nerve injury. These patterns aid in early diagnosis and localization of chiasmal lesions. METHODS: Twenty-three patients with chiasmal compression seen between 2010 and 2015 were imaged with the Cirrus high-definition optical coherence tomography macular cube 512 × 128, retinal nerve fiber layer (RNFL) scan protocols and automated (30-2 Humphrey) visual fields (VFs). Age-matched controls were included for comparison. Generalized estimating equations were performed comparing RNFL and GCC thicknesses between patients and their controls. Effect size (d) was calculated to assess the magnitude of difference between patients and controls. The average GCC and RNFL thicknesses also were correlated with VF mean deviation (MD). Pre operative average GCC thickness was correlated to post operative VF MD. RESULTS: Patterns of GCC thinning corresponded to VF defects. The average GCC thickness was 67 ± 9 µm in patients and 86 ± 5 µm in controls (P < 0.001). The effect size was the greatest for GCC thickness (d = 2.72). The mean deviation was better correlated with GCC thickness (r =0.25) than RNFL thicknesses (r =0.15). Postoperatively, VF MD improved in 7 of 8 patients with persistent nasal GCC thinning. Six patients had no VF defect and showed statistically significant loss of GCC compared with controls (P = 0.001). CONCLUSIONS: Distinct patterns of GCC loss were identified in patients with chiasmal compression. Binasal GCC loss was typical and could be seen with minimal or no detectable VF loss. Thinning of the GCC may be detected before loss of the RNFL in some patients. After decompression, the majority of patients showed improvement in VF despite persistent GCC loss. Patients with less GCC loss before decompression had better postoperative VFs. Therefore, GCC analysis may be an objective method to diagnose and follow patients with chiasmal lesions.