Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome

The aim of this study is to describe bilateral optic disc swelling in three consecutive patients with Blau syndrome or cryopyrin-associated periodic syndrome at a single institution. Case 1 was a 30-year-old woman receiving 25 mg etanercept twice weekly who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 5 months old and genetically diagnosed with Blau syndrome with CARD15/NOD2 mutation (N670K) at 13 years old. At 10 years old, she began to have uveitis with optic disc swelling in both eyes, resulting in macular degeneration and optic disc atrophy at 17 years old only when etanercept was introduced. Case 2 was a 21-year-old man receiving adalimumab every 2 weeks who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 1.5 years old and genetically diagnosed as Blau syndrome with CARD15/NOD2 mutation (C495Y) at 5 years old. At 8 years old, around the time of adalimumab introduction, he began to show bilateral optic disc swelling which continued until the age of 16 years when the dose of adalimumab was increased. Case 3 was a 20-year-old woman receiving canakinumab every 8 weeks for systemic symptoms such as fever, headache, vomiting, and abdominal pain and later for sensorineural hearing disturbance on both sides. She had been diagnosed genetically with cryopyrin-associated periodic syndrome with NLRP3 mutation (Y859C) at 7 years old. At 5 years old, she was found to have bilateral optic disc swelling, which continued until the age of 10 years when she began receiving canakinumab (IL-1β inhibitor). Bilateral optic disc swelling might be tentatively designated as a plausible common ocular feature, if it occurred, in autoinflammatory diseases to pay more attention to ophthalmic complications in rare diseases.

Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I

Background Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity. It is caused by mutation in the NF1 gene on chromosome 17 encoding for neurofibromin, a protein with oncosuppressive activity, and it is 50% sporadic or inherited. The disease is characterized by a broad spectrum of clinical manifestations, mainly involving the nervous system, the eye and skin, and a predisposition to develop multiple benign and malignant neoplasms. Ocular diagnostic hallmarks of NF1 include optic gliomas, iris Lisch nodules, orbital and eyelid neurofibromas, eyelid café-au-lait spots. Choroidal nodules and microvascular abnormalities have recently been identified as additional NF1-related ocular manifestations. The present study was designed to describe the features and clinical significance of a new sign related to the visual apparatus in NF-1, represented by hyperpigmented spots (HSs) of the fundus oculi. Results HSs were detected in 60 (24.1%) out of 249 patients with NF1, with a positive predictive value of 100% and a negative predictive value of 44.2%. None of the healthy subjects (150 subjects) showed the presence of HSs. HSs were visible under indirect ophthalmoscopy, ultra-wide field (UWF) pseudocolor imaging and red-only laser image, near-infrared reflectance (NIR)-OCT, but they were not appreciable on UWF green reflectance. The location and features of pigmentary lesions matched with the already studied NF1-related choroidal nodules. No significant difference was found between the group of patients (n = 60) with ocular HSs and the group of patients (n = 189) without ocular pigmented spots in terms of age, gender or severity grading of the disease. A statistically significant association was demonstrated between the presence of HSs and neurofibromas (p = 0.047), and between the presence of HSs and NF1-related retinal microvascular abnormalities (p = 0.017). Conclusions We described a new ocular sign represented by HSs of the fundus in NF1. The presence of HSs was not a negative prognostic factor of the disease. Following multimodal imaging, we demonstrated that HSs and choroidal nodules were consistent with the same type of lesion, and simple indirect ophthalmoscopy allowed for screening of HSs in NF1.

Surgical management and outcomes of pediatric open globe injuries requiring vitrectomy

Purpose: To describe surgical management and establish visual outcomes of open globe injury (OGI) in pediatric patients requiring vitrectomy. Methods: Forty-eight eyes of 48 pediatric patients underwent vitrectomy for OGI with secondary vitreoretinal complications in the eye center of Jilin University were included. Characteristics of patients, details of ocular examination and operation, presenting and final visual acuity were recorded. Results: Presenting visual acuity less than 20/400 was found in 44 eyes (91.7%), which included no light perception (NLP) in four eyes. At last visit, there was no eyes with visual acuity of NLP, and 19 eyes (39.6%) had a vision recovery to 20/400 or better. Mechanisms of injury, intraocular contents prolapse, presence of hyphema, intraocular foreign body, vitreous hemorrhage, retinal detachment, and total time from injury to PPV > 2 weeks were significant predictors of visual prognosis. Logistic regression analysis showed that hyphema was a significant predictive factor for poor visual outcome. Conclusion: Visual acuity was improved in most of the patients with OGI in this study. Hyphema is an important presenting ocular sign in estimating the post-vitrectomy visual outcome for OGI in children. Proper timing of vitrectomy is suggested, and in this study patients may benefit more with early vitrectomy as less proliferative vitreoretinopathy (PVR) was found together with a better visual acuity.

Hyperpigmented Spots at Fundus Examination: A New Ocular Sign in Neurofibromatosis Type I

Background: Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity. It is caused by mutation in the NF1 gene on chromosome 17 encoding for neurofibromin, a protein with oncosuppressive activity, and it is 50 % sporadic or inherited.The disease is characterized by a broad spectrum of clinical manifestations, mainly involving the nervous system, the eye and skin, and a predisposition to develop multiple benign and malignant neoplasms. Ocular diagnostic hallmarks of NF1 include optic gliomas, iris Lisch nodules, orbital and eyelid neurofibromas, eyelid café-au-lait spots. Choroidal nodules and microvascular abnormalities have recently been identified as additional NF1-related ocular manifestations. The present study was designed to describe the features and clinical significance of a new sign related to the visual apparatus in NF-1, represented by hyperpigmented spots (HSs) of the fundus oculi.Results: HSs were detected in 60 (24.1%) out of 249 patients with NF1, with a positive predictive value of 100% and a negative predictive value of 44.2%. None of the healthy subjects showed the presence of HSs. HSs were visible under indirect ophthalmoscopy and infrared light, but not appreciable on green reflectance. The location and features of pigmentary lesions matched with the already studied NF1-related choroidal nodules. No significant difference was found between the group of patients (n=60) with ocular HSs and the group of patients (n=189) without ocular pigmented spots in terms of age, gender or severity grading of the disease. A statistically significant association was demonstrated between the presence of HSs and neurofibromas (p=0.047), and between the presence of HSs and NF1-related retinal microvascular abnormalities (p=0.017).Conclusions: we described a new ocular sign represented by HSs of the fundus in NF1. The presence of HSs was not a negative prognostic factor of the disease. Following an in-depth instrumental investigation, we demonstrated that HSs and choroidal nodules were consistent with the same type of lesion, and simple indirect ophthalmoscopy allowed for screening of HSs in NF1.

Tacrolimus versus Cyclosporine- Comparative Evaluation as First line drug in Vernal keratoconjuctivitis

Introduction: The aim of the study was to evaluate and compare the efficacy, side effects and recurrence rate of vernal kerato conjunctivitis (VKC) with 0.03% tacrolimus and 0.05% cyclosporin.Material and method: A prospective randomised double blinded comparative study was conducted at a tertiary eye center. 46 Patients of VKC between March 2015- August 2015 were randomly divided into two groups and treated for 6weeks with either Tacrolimus(0.03%) eye ointment BD or Cyclosporine (0.05%) eyedrops QID.The main outcome measures were scoring and comparison of Total subjective symptom scores (TSSS) and Total objective ocular sign scores (TOSS) within and between the Groups at each follow up.Thirty two patients, sixteen from each group, with comparable baseline characters were analysed.Results: With treatment both TSSS and TOSS decreased consistently in both groups without any adverse effects but an increase in scores was noticed within two weeks after drug withdrawal.Conclusion: Both drugs are equally effective and safe in VKC but with short lasting effect.

Evaluation of the "spasticity of conjugate gaze phenomenon" in unilateral cerebral lesions

The spasticity of conjugate gaze phenomenon (SCG) is a subtle motor ocular sign that usually indicates unilateral acute cerebral lesion. We analyzed the sensitivity of this sign in a prospective blinded study using 57 patients. All patients had monohemispheric brain lesions without resting deviation of the eyes and no motor complaints. Fourteen individuals without cerebral lesions were included as controls. Patients and controls were submitted to a brain magnetic resonance image. We observed SCG in just 1/57 (sensitivity of 1.7%), while all controls had a normal Bell's phenomenon. We speculate that SCG may disappear over time and is not useful to diagnose a long-lasting unilateral brain lesion.