Azzopardi Phenomenon in a Non-neoplastic Phthisical Eye: A Case Report

Objective: The Azzopardi phenomenon, known as the deoxyribonucleic acid deposition on various structures due to cellular necrosis, has never been reported in non-neoplastic eyes. Methods: We report a case of a 48-year-old man who had congenital nystagmus with poor vision in both eyes, presented with decreased vision and photophobia in his left eye. An exudative retinal detachment was found, which did not respond to systemic steroid treatment. Glaucoma due to occlusio pupillae was later developed. Laser iridotomy and anti-glaucoma medications decreased intraocular pressure to an acceptable level. Vision in the left eye gradually deteriorated during the 10-year clinical course. Evisceration was finally performed due to persistent dull aching ocular pain along with signs of ocular hypotony Results: Histopathological examination showed phthisis bulbi and focal nodular retinal gliosis. The Azzopardi phenomenon was found at the retinal vessel walls, within the retinal layers and along the internal limiting membrane. There was neither evidence of intraocular tumors nor foreign bodies. Conclusion: This case demonstrated that the Azzopardi phenomenon could be present in a non-neoplastic eye with a longstanding disease that proceeds to phthisis bulbi.

A Family with a High Incidence of Migraine and Vestibular Migraine and a Case of Menière’s Disease

Vestibular migraine (VM) and Menière’s disease (MD) are common neurotological disorders causing episodic vertigo. Sometimes, VM is accompanied by cochlear symptoms suggestive for MD. Therefore, in those cases, the differential diagnosis between the two disorders can be difficult. Moreover, a comorbidity with migraine in MD patients is widely reported, up to the hypothesis of a possible MD-VM overlapping syndrome. In this brief case report, we consider the clinical history of a family presenting high incidence of subjects fulfilling the diagnostic criteria of VM and single case fulfilling criteria for definite MD. The relationship between VM and MD is still under debate; anyway, it can be speculated that commonly shared genetic mutations could play a role as predisposing factors in both disorders. A congenital nystagmus in the family was present too, but its correlation with the other conditions is still not clear. Future goal of our work will be to assess genetics in this family.

Vestibular Function Measured Using the Video Head Impulse Test in Congenital Nystagmus and Vertigo: A Case Report

In patients with congenital nystagmus (CN), the study of vestibular function is complicated by many factors related to the measurement of the vestibulo-ocular reflex (VOR) by means of caloric testing and the video head impulse test (vHIT), and to date no such studies have successfully employed the vHIT to evaluate vestibular function in these patients. We present a case with CN and vertigo in which peripheral vestibular function was evaluated using the vHIT system, including head impulse testing and the suppression head impulse protocol. We show that it is possible (a) to identify lateral VOR changes such as abnormalities resembling those produced by bilateral vestibular lesions, though not necessarily related to the same mechanism; (b) to identify peripheral VOR lesions of the vertical semicircular canals (SCC); and (c) to document compensation and recovery subsequent to these peripheral lesions during follow-up of patients with CN. vHIT is a useful tool that should be used to study vestibular function in patients with CN and vertigo, which could constitute a new clinical application of this technique.

GPR143 is a Prognostic Biomarker Associated with Immune Infiltration in Melanoma

Background: Skin cutaneous melanoma (SKCM) is considered one of the most aggressive and lethal cancers of the skin. G-protein coupled receptor 143 (GPR143), which has been reported to cause congenital nystagmus, belongs to the superfamily of G protein-coupled receptors. Methods and Results: We analyzed the expression of GPR143 and survival of SKCM patients in SKCM via Gene Expression Profiling Interactive Analysis (GEPIA). Then, logistic regression and multivariate cox analysis was used to analyze the influence of GPR143 expression on clinicopathological elements and survival. We explored the immune response of 22 TIICs in SKCM via CIBERSORT and used TIMER to assess the correlation of GPR143 expression and immune infiltration level. Finally, we used gene set enrichment analysis (GSEA) to assess the TCGA dataset. The outcomes suggest that GPR143 expression in tumor samples is remarkedly higher than in normal samples and high GPR143 expression is associated with poorer prognosis. The result of multivariate analysis indicated that increased GPR143 expression is an independent prognostic factor for prognosis. We found GPR143 expression level has prominent negative correlations with infiltrating levels of B cell, CD8+ T cells, etc. GSEA indicated that pigment metabolic process, pigment biosynthetic process and other pathways were identified as differentially enriched pathways in Gene Ontology (GO). Oxidative phosphorylation, Parkinson’s disease and other pathways were showed significantly differential enrichment in GPR143 high expression phenotype in Kyoto Encyclopedia of Genes and Genomes (KEGG).Conclusions: In conclusion, GPR143 may be a novel prognostic biomarker and associated with immune infiltrates in SKCM.

Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus

Purpose: Congenital nystagmus (CN) is a genetically and clinically heterogeneous ocular disorder that manifests as involuntary, periodic oscillations of the eyes. To date, only FRMD7 and GPR143 have been reported to be responsible for causing CN. Here, we aimed to identify the disease-causing mutations and describe the clinical features in the affected members in our study.Methods: All the subjects underwent a detailed ophthalmic examination. Direct sequencing of all coding exons and splice site regions in FRMD7 and GPR143 and a mutation assessment were performed in each patient.Results: We found 14 mutations in 14/37 (37.8%) probands, including nine mutations in the FRMD7 gene and five mutations in the GPR143 gene, seven of which are novel, including c.284G>A(R95K), c.964C>T(P322S), c.284+10T>G, c.901T>C (Y301H), and c.2014_2023delTCACCCATGG(S672Pfs*12) in FRMD7, and c.250+1G>C, and c.485G>A (W162*) in GPR143. The mutation detection rate was 87.5% (7/8) of familial vs. 24.1% (7/29) of sporadic cases. Ten mutations in 24 (41.7%) non-syndromic subjects and 4 mutations in 13(30.8%) syndromic subjects were detected. A total of 77.8% (7/9) of mutations in FRMD7 were concentrated within the FERM and FA domains, while all mutations in GPR143 were located in exons 1, 2, 4 and 6. We observed that visual acuity tended to be worse in the GPR143 group than in the FRMD7 group, and no obvious difference in other clinical manifestations was found through comparisons in different groups of patients.Conclusions: This study identified 14 mutations (seven novel and seven known) in eight familial and 29 sporadic patients with congenital nystagmus, expanding the mutational spectrum and validating FRMD7 and GPR143 as mutation hotspots. These findings also revealed a significant difference in the screening rate between different groups of participants, providing new insights for the strategy of genetic screening and early clinical diagnosis of CN.

Eye movements elevate crowding in congenital idiopathic nystagmus

Congenital idiopathic nystagmus (sometimes known as infantile nystagmus) is a disorder characterised by involuntary eye movements, which leads to decreased acuity and visual function. One such function is visual crowding, a process whereby objects that are easily recognised in isolation become impaired by nearby flankers. Crowding typically occurs in the peripheral visual field, though elevations in foveal vision have been reported in congenital nystagmus, similar to those found with amblyopia (another developmental visual disorder). Here we examine whether the elevated foveal crowding with nystagmus is driven by similar mechanisms to those documented in amblyopia – long-term neural changes associated with a sensory deficit – or by the momentary displacement of the stimulus through nystagmus eye movements. We used a Landolt-C orientation identification task to measure threshold gap sizes with and without flanker Landolt-Cs that were either horizontally or vertically placed. Because nystagmus is predominantly horizontal, crowding should be stronger with horizontal flankers if eye movements cause the interference, whereas a sensory deficit should be equivalent for the two dimensions. Consistent with an origin in eye movements, we observe elevations in nystagmic crowding that are above that of typical vision, and stronger with horizontal than vertical flankers. This horizontal elongation was not found in either amblyopic or typical vision. We further demonstrate that the same pattern of performance can be obtained in typical vision with stimulus movement that simulates nystagmus. We consequently propose that the origin of nystagmic crowding lies in the eye movements, either through relocation of the stimulus into peripheral retina or image smear of the target and flanker elements.