Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series.

BACKGROUND: Oculofaciocardiodental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems, being an X-linked condition caused by pathogenic variants in the BCL-6 corepressor gene (BCOR). We report a case series of three female patients with OFCD syndrome with severe glaucoma. RESULTS: Three female patients with OFCD syndrome with different variants involving BCOR gene, in heterozygosity: a seven-years-old girl with an insertion (c.2037_2038dupCT), a nine years-old girl with a microdeletion in the X (p21.2-p11.4)) spanning the BCOR gene; and a 25 years-old female with a deletion (c.3858_3859del). Systemic involvement is variable among patients ranging from one patient mainly with ocular and dental involvement to one with associated intra-auricular and intra-ventricular defects. All the patients presented with congenital cataracts diagnosed in the first days of life. Cataract surgery was performed without incidents between 6 and 16 weeks of age in all the patients. Postoperatively, the three patients developed ocular hypertension and glaucoma with the need for surgical interventions, including trabeculectomy, Ahmed valve implantation, and cyclophotocoagulation. CONCLUSION: OFCD syndrome characterizes by a severe ocular involvement with glaucoma as a characteristic feature. Ocular hypertension after cataract surgery in these patients is challenging, almost always needing surgery during childhood. Therefore, we consider BCOR disruption may predispose to a higher incidence of glaucoma due to its aggressiveness and early onset on our case series. The awareness of these complications is crucial to an adequate follow-up of the patients.

Visual impairment in mucopolysaccharidosis VI.

Mucopolysaccharidosis (MPS) VI is a rare genetic disease characterized by deficient activity of N-acetylgalactosamine 4-sulfatase, leading to the systemic deposition of glycosaminoglycans. Ocular involvement is classically characterized by progressive corneal clouding, ocular hypertension (OHT), and optic neuropathy. Although corneal clouding can be solved with penetrating keratoplasty (PK), visual impairment usually remains, being frequently attributed to glaucoma. The purpose of this study was to retrospectively describe a series of MPS VI patients with optic neuropathy in order to deepen the knowledge regarding the causes of severe visual impairment among these patients. We present five genetically confirmed clinical cases of MPS VI, treated with enzymatic replacement therapy, and with regular systemic and ophthalmologic follow-up. Corneal clouding was a common early presenting feature, leading to PK in four patients. During their follow-up, all patients developed very low visual acuities regardless of corneal grafts outcomes and controlled intraocular pressure (IOP). Furthermore, all patients exhibited optic atrophy and imagiological evidence of significant subarachnoid space enlargement and consequent optic nerve thickness reduction, suggesting compression of the optic nerve in a retro-ocular location as the cause of optic neuropathy. Although optic neuropathy in MPS VI is commonly attributed to glaucoma due to OHT, by describing a series of five MPS VI patients, we provided evidence that, differently from glaucoma, compression of optic nerve in a retro-ocular location is crucial for the development of optic neuropathy, at least in some cases. We propose the denomination of posterior glaucoma and suggest it as an important cause of optic neuropathy, leading to severe visual impairment and blindness among these patients.

When the picture masks the diagnosis - an atypical and severe giant cell arteritis case report.

PURPOSE: To describe an atypical and severe case of Giant Cell Arteritis (GCA). METHODS: Case report description. RESULTS: We report the case of a 76-year-old male who presented with severe and progressive bilateral visual loss. Upon presentation at the ophthalmology emergency room, the patient's right eye (OD) displayed aqueous flare, hyphema, rubeosis iridis, and dense posterior capsular opacification. After YAG laser capsulotomy, vitreous densifications, intraretinal hemorrhages, cotton wool spots, retinal ischemia and vasculitis were observed in the fundoscopy. The patient's left eye (OS) also presented intraretinal hemorrhages and cotton wool spots around the temporal arcades. The diagnostic workup excluded infectious diseases, demyelinating diseases, and ocular ischemic syndrome due to carotid obstruction. Proteinogram revealed a monoclonal gammopathy, suggesting a possible hematologic condition. High-dose corticotherapy was initiated, which improved the vitreous densifications and enabled the visualization of a OD pale optic disc. The remaining study did not confirm the diagnosis of hematologic disease. During follow-up, bilateral visual acuity deteriorated, with development of progressive pallor in the OS optic disc. Follow-up fluorescein angiography demonstrated progressive retinal and choroidal ischemia. Finally, due to high clinical suspicion, temporal artery doppler ultrasound was performed, confirming the diagnosis of GCA. CONCLUSION: GCA may present multiple ocular features. The knowledge of these different presentations, including retinal and choroidal ischemia or uveitis, is critical for timely diagnosis and treatment initiation. Since patients with GCA often present with vision loss, ophthalmologists may be the first medical doctors that contact with these patients, being on the frontline of GCA diagnosis.

Tocilizumab as a Useful Tool for Thyroid Eye Disease in Pediatric Population: A Case Report.

Thyroid eye disease (TED) characterizes by inflammation and remodeling of orbital tissues. Although the majority of pediatric TED is mild, some children present progressive and severe disease. The approach to severe disease in this group of patients, especially when noncortico-responsive, is challenging. The purpose of this work was to describe the effective use of tocilizumab as second-line therapy in steroid-resistant pediatric TED. A 13-year-old female with a history of Graves' disease presented with right eye proptosis for at least 8 months associated with mild pain on eye movements and ocular surface complaints. The ophthalmologic evaluation revealed Hertel exophthalmometry readings of 22 mm on the right eye (OD) and 19 mm on the left (OS). The remaining ophthalmic examination was unremarkable. Intravenous methylprednisolone pulses of 500 mg were initiated without any improvement after 4 treatments. Following multidisciplinary team discussion, therapy was switched to monthly tocilizumab injections at 4 mg/kg. Significant reduction of proptosis and resolution of pain and ocular surface complaints were noted immediately after the treatment switch. Exophthalmometry readings after the end of treatment that included 4 tocilizumab injections were 20 mm on OD and 19 mm on OS. No side effects were reported during the entire follow-up. Six months after treatment cessation, the patient remains stable, without any signs of orbitopathy relapse and no ophthalmologic complaints. This is the second case report showing the effectiveness of tocilizumab in pediatric TED and the first one showing its efficacy when steroids fail. Our results support the potential safety and efficacy of this immunosuppressor in children with TED.

Peripapillary and Subfoveal Choroidal Thickness in Retinal Vein Occlusions.

Purpose: This work aimed to longitudinally assess the peripapillary (PPCT) and subfoveal (SFCT) choroidal thickness (CT), in patients diagnosed with central (CRVO) or branch retinal vein occlusions (BRVO), correlating SFCT with central macular thickness (CMT) and PPCT with peripapillary retinal nerve fiber layer thickness (pRNFL). Patients and Methods: This was a retrospective longitudinal study of 71 eyes from 71 patients with treatment-naïve retinal vein occlusion (24 CRVO and 40 BRVO). Spectral-domain optical coherence tomography (SD-OCT, Spectralis HRA-OCT, Heidelberg) was used to measure PPCT, SFCT, pRNFL and CMT of the affected and fellow eyes at baseline (acute phase) and at 3 and 9 months post anti-VEGF treatment. IBM SPSS Statistics version 27.0 (IBM Corp., Armonk, NY, USA) was used for statistical analysis. A p-value ≤0.05 was considered statistically significant. Results: Affected eyes presented a thicker baseline PPCT and SFCT compared to their fellow eyes both in CRVO and BRVO (p < 0.05). Both groups presented a significant decrease of PPCT in the affected eyes at 3 months compared to baseline (p < 0.05). At 9 months, compared to 3 months, PPCT remained stable (p > 0.05). Similarly, affected eyes' SFCT significantly decreased at 3 months (p < 0.05) in both groups. At 9 months, compared to 3 months, SFCT decreased in the CRVO patients (p = 0.047) but remained stable in the BRVO patients (p = 0.850). No correIations between SFCT and CMT were seen at any timepoint in both groups (p > 0.05). PPCT correlates with pRNFL in CRVO at 3 months, although no other correlations were found during the follow-up. In BRVO, PPCT did not show any significant correlation with pRNFL. Conclusion: Both in CRVO and BRVO eyes, PPCT and SFCT at diagnosis are significantly thicker compared to the fellow eye, suggesting a possible increase in CT immediately after the occlusion, which is followed by a decrease at an early follow-up stage.

Rhino-Orbital Mucormycosis After COVID-19 Recovery: A Case Report.

The pandemic caused by SARS-CoV-2 remains a health care concern, despite vaccination programs. Mucormycosis, especially rhino-orbital-mucormycosis, has been described as a severe complication of COVID-19. Although it has been described mostly in India and other developing countries, few cases in the western world have also been described. We present a case of rhino-orbito-mucormycosis after recovery from severe COVID-19 in Portugal. A 75-year-old diabetic and obese man presented with right proptosis associated with right eye pain and low vision one month after recovery from severe COVID-19. Considering the most probable etiology for this clinical picture, anti-fungal therapy with liposomal amphotericin B was promptly initiated, followed by endoscopic sinus debridement. However, due to persistent and progressive infection, and after a multidisciplinary revision of the case, orbital exenteration was performed. One year after surgery, the patient is stable, without clinical or imagological signs of relapse of the disease. Although the evolution of the pandemic, along with vaccination programs, led to a lower incidence of severe COVID-19 disease, there are still patients presenting with severe COVID-19, requiring intensive care and at risk for serious complications. This case illustrates the importance of being aware of the development of post-COVID-19 mucormycosis and the need for close surveillance of patients recovering from severe COVID-19. COVID-19 prompt diagnosis and multidisciplinary approach are essential for a timely intervention achieving better survival while minimizing morbidity.

The Role of Atopy in the Choroidal Profile of Keratoconus Patients.

PURPOSE: Although classically classified as a non-inflammatory condition, an inflammatory basis for keratoconus (KC) appears to be a growing evidence. Recently, it has been shown that KC patients have an increased choroidal thickness (CT). Among inflammatory disorders, atopy has been associated with KC development; therefore, the aim of this study was to evaluate if the increased CT in patients with KC is related to atopy. METHODS: This is an analytical cross-sectional study of patients with KC. Patients were classified as atopic and non-atopic according to their atopy history (allergic rhinoconjunctivitis (AR), asthma (AA) and/or atopic dermatitis (AD)) and were also classified based on their eye rubbing habits. Choroidal profile of all subjects was evaluated using a Spectralis optical coherence tomography (OCT) device with enhanced depth imaging (EDI) mode. CT was measured and compared between groups at the center of the fovea and at 500 µm intervals along a horizontal section. A multivariable analysis, adjusted for sex, age, spherical equivalent, history of medication and atopy, was performed to assess the influence of atopy in CT. RESULTS: Of the 80 patients included, 51 were atopic and 29 non-atopic. Atopic patients showed a thicker choroid in every measured location than the non-atopic patients (mean subfoveal CT 391.53 µm vs 351.17 µm, respectively), although the differences were not statistically different. The multivariable analysis revealed that being atopic makes the choroid statistically thicker, on average, 55.14 µm, when compared to non-atopic patients (p=0.043). Furthermore, patients who are frequent eye rubbers have significantly thicker choroids than non-rubbers (p=0.004). CONCLUSION: Although some results do not reach statistical significance, atopic KC patients seem to have thicker choroids compared with non-atopic KC patients, suggesting a possible role for atopy in the choroidal profile of KC. This constitutes a completely new sight in this field of research that needs further investigation.

Childhood-Onset Leber Hereditary Optic Neuropathy: Particular Features.

BACKGROUND: Leber hereditary optic neuropathy (LHON) is an optic neuropathy of mitochondrial inheritance. Childhood-onset disease is relatively rare and there are limited data on this important patient subgroup. CASE PRESENTATION: We present 3 particular presentations of LHON. Patient 1 was an 8-year-old boy admitted to the emergency department reporting a progressive bilateral visual loss and intermittent headaches. Neuro-ophthalmological examination revealed a bilateral pseudopapilledema. Lumbar puncture identified intracranial hypertension and the brain and orbits magnetic resonance imaging showed T2 hyperintensity in the posterior region of the left optic nerve and the optic chiasm. Patient 2 was a 12-year-old boy admitted to the emergency department reporting painless, progressive central vision loss in the right eye. Fundus examination revealed a hyperemic disc and vascular network papillary and peripapillary vascular microdilations. Three months later, the left eye presented visual loss. Patient 3 was a 6-year-old female child referred to the neuro-ophthalmology specialist due to painless central visual loss in both eyes. Her BCVA was 1/10 and counting fingers in right and left eye, respectively, and fundus examination revealed a pallor optic disc in the temporal sector. DISCUSSION: The phenotype of childhood-onset disease may present itself distinct from classical adult-onset LHON. The absence of classical clinical features could lead to initial misdiagnosis. There should exist a high index of suspicion in children presenting unexplained subnormal vision in order to avoid potential diagnostic delays.