Pseudoexfoliation Glaucoma and its Systemic Association: A Clinical Study

Pseudoexfoliation [PXF] being a age related elastotic process is a well known entity among all ophthalmologists. PXF is most common form of secondary glaucoma. Objective: To study the clinical presentations and response to treatment of PXF glaucoma and also to throw light on its systemic associations. Methods: A total of 70 eyes of PXF glaucoma was considered for the study in duration of 6 months from june to November 2021 at a tertiary care center. All patients underwent detailed ophthalmic evaluation along with gonioscopy, optic disc assessment, visual fields and intraocular pressure. Based on all these , patients were graded as mild, moderate and advanced glaucoma and treated accordingly either with medical or surgical line of management. Patients were followed up for a duration of 6 months. ECG, echocardiography and dermatological evaluation of all the patients were done. Results: Mean age of 70 patients was 52.2 years and there was male preponderance .Powdery greyish white pseudoexfoliative material on pupillary margin was seen in 41 eyes[58.5%] and on anterior capsule was seen in 19 eyes[27.1%]. IOP in these 70 patients ranged between 14 to 40mmHg. Gonioscopy showed exfoliative material deposition in 14 eyes[20%] and increased pigmentation of trabecular meshwork in 44 eyes[62.85%]. Also, it revealed narrow angle( grade 1&2) in 6 eyes and open angle (grade 3&4) in rest .Visual filed changes were present in 57 of 70 eyes with PXF glaucoma. Optic disc changes in PXF glaucoma also showed variations with 17 eyes having CD ratio of<0.5,while 38 eyes had a cupping between 0.6-0.8. Eleven eyes showed advanced cupping of >0.8 while 4 eyes had glaucomatous optic atrophy.60 eyes were treated with medical line while 10 eyes were managed surgically. 4 patients had dermal nodules and diastolic dysfunction was noted in 31 patients. Conclusion: PXF confers a significantly higher risk of developing glaucoma in comparison with the general population and needs close monitering. PXF glaucoma and its systemic associations also has to be considered Keywords: PXF, pseudoexfoliative, ECG

Systemic and Genetic Risk Factors for Reticular Macular Disease and Soft Drusen in Age- Related Macular Degeneration

Purpose: Soft drusen and subretinal drusenoid deposits (SDD) aka reticular macular disease (RMD) characterize two pathways to advanced age-related macular degeneration (AMD). We propose these pathways are distinct diseases, with distinct genetic risks, serum risks and associated systemic diseases. Methods: 126 Subjects with AMD had: retinal imaging for RMD status, serum risks, genetic testing, and histories of cardiovascular disease (CVD) and stroke. Results: 62 subjects had RMD, 64 were nonRMD (drusen only), 51 had CVD or Stroke. RMD correlated significantly with: ARMS2 risk allele (p= 0.019); lower mean serum HDL (61 vs. 69 mg/dl, p= 0.038, t test); CVD and troke (34/51 RMD, p= 0.001). NonRMD correlated/trended with: APOE2 (p= 0.032) and CETP (p= 0.072) risk alleles. 97 subjects total had some drusen, which correlated with CFH risk (p= 0.016). Multivariate independent risks for RMD were: CVD and Stroke (p= 0.008), and ARMS2 homozygous risk (p= 0.038). Conclusion: The RMD and soft drusen AMD pathways have distinct systemic associations, serum and genetic risks. RMD is associated with CVD and stroke, ARMS2 risk, and lower HDL; drusen with CFH risk and two lipid risk genes. These pathways appear to be distinct diseases leading to advanced AMD.

Cutaneous Features of Anti-MDA-5 Antibody-Positive Amyopathic Dermatomyositis in a Sudanese Patient

Clinically amyopathic dermatomyositis (CADM) is a rare form of DM characterized by unique cutaneous and pulmonary features with no muscle involvement. A subset of patients with CADM has a specific antibody known as anti-melanoma differentiation-associated protein 5 (MDA5). The systemic associations of anti-MDA-5 CADM warrant an early recognition and management to prevent fetal sequelae. It is seen more commonly in white and Asian female individuals. The clinical features of anti-MDA5 antibody-positive CADM in other ethnic groups are not well reported. Here, we describe a case of CADM with identified autoantibodies against MDA5 in a Sudanese female patient presenting with characteristic cutaneous features in association with MDA5 autoantibodies: ulcerated Gottron’s papules, painful palmar papules, shawl sign, and heliotrope sign. No evidence of pulmonary or systemic involvement was identified. Treatment with prednisolone and mycophenolate mofetil was initiated. This case emphasizes the importance of keeping a high level of suspicion and to recognize the unique clinical feature of this type of DM aiding in early treatment and preventing fatal outcomes.

Optic disc and peripapillary vessel density measured with optical coherence tomography angiography and its associations in Chinese adults: a large population-based study

PurposeTo investigate the optic disc and peripapillary vessel density, as well as its ocular and systemic associations, in healthy eyes among adult Chinese population.MethodsA population-based cross-sectional eye survey was conducted on Chinese adults residing in Hong Kong. 1891 eyes from 1891 participants who completed 4.5×4.5 mm optical coherence tomography angiography scans were recruited. Among the 1891 eyes, 404 were excluded due to low scan quality, optic disc or retinal disorders and non-Chinese ethnicity. The vessel densities (VDs) at nerve fibre layer plexus (NFLP) at both optic disc and peripapillary were collected for analysis. Multiple linear regression analysis was performed to determine the ocular and systemic associations of NFLP VD.ResultsThe study included 1487 participants (men: 41.2%) with a mean age of 48.8±15.4 years. The mean NFLP VD of the whole en face image, inside disc and peripapillary region was 53.8%, 42.7% and 60.3%, respectively. In the multivariable model, decreased NFLP VDs were significantly associated with older age, male gender, longer axial length (AL) and lower Signal Strength Index.ConclusionsThis large population-based cross-sectional study provided quantitative data of optic disc and peripapillary NFLP VD which may serve as a normative reference for clinical use. Apart from age, gender and AL, the scan signal strength also should be taken into consideration during the assessment of NFLP VD.

Bullous Pyoderma Gangrenosum

Pyoderma gangrenosum(PG) is a rare neutrophilic dermatosis characterized by painful necrotic ulcerations. It affects patients between the age of 40 and 60 years. Clinically, it presents as a very painful papulopustule or bulla which rapidly progresses to form deep necrotic ulcers. Hematologic malignancies are commonly linked with bullous PG. We report a case of bullous PG who presented with multiplehaemorrhagic blisters without any systemic associations.

Retinitis Pigmentosa; Atypical Presentation and Systemic Associations

Retinitis pigmentosa (RP) is a group of hereditary retinal disorders characterized by progressive dysfunction of photoreceptors and pigment epithelial cells. RP is a clinically heterogeneous disease that comprises a wide range of phenotypic and genetic subtypes. The clinical manifestation of RP is predominantly confined to the eye and the retina. However, 15–20% of patients with RP present with a syndromic form of RP associated with extra-ocular abnormalities.

Estimating the frequency of coincidental spatial associations between Clovis artifacts and proboscidean remains in North America

The extent to which Clovis peoples hunted proboscideans is debated. Convention requires that for a proboscidean butchery site to be accepted, contemporaneous artifacts must be spatially associated with faunal remains, and there must be evidence of use of the remains. Fourteen sites in North America currently meet those criteria; at least 31 do not. While these are reasonable requirements for avoiding false positives, such an approach risks identifying false negatives—rejecting spatial associations that are systemic associations. Given the known distributions of Clovis and proboscidean sites, how likely is it that artifacts are coincidentally associated with proboscidean remains? Conversely, how many spatial associations could be unrecognized butchery sites? To answer these questions, we simulated chance associations by plotting empirically informed densities and sizes of archaeological and proboscidean sites on simulated landscapes in which people and animals are (a) uniformly distributed and (b) tethered to water sources. The simulated frequencies of coincidental associations were compared to the observed frequency of co-occurrences. Our results suggest that of the 31 indeterminate empirical associations, at least 17 and as many as 26 are likely systemic associations, more than doubling previous estimates and revealing a greater role of humans in Pleistocene proboscidean exploitation than previously recognized.