Purpose To represent and interpret the three‐dimensional geometry and distribution of the axonal damage to the retinal nerve fiber layer (RNFL) in patients with multiple sclerosis (MS) compared with healthy subjects. To analyze alterations in RNFL morphology in eyes of MS patients with or without previous episodes of optic neuritis (ON). Methods MS patients (n=122) and age‐matched healthy subjects (n=108) were enrolled in this observational cross‐sectional study. The Spectralis OCT system (Heidelberg Engineering) was used to determine the circumpapillary RNFL thickness in both eyes of each participant. The 768 RNFL thickness measurements provided by the Spectralis OCT were used to evaluate thickness measurements in MS patients with or without antecedent ON and to design a three‐dimensional reconstruction of the RNFL thickness representing the mechanobiologic tissue response to neurodegeneration caused by MS and ON episodes. Results RNFL thickness was decreased in MS patients, and higher in the MS group with previous ON. Statistical analysis and three‐dimensional RNFL reconstruction revealed greater damage to the ganglionar cells in the superonasal RNFL area in MS eyes (101.77 µm in MS vs 125.47 µm in healthy subjects) and in the inferotemporal RNFL (119.05 µm in healthy eyes vs. 149.26 previous‐ON MS eyes) in MS eyes with previous ON. Conclusion The three‐dimensional representation of RNFL thickness based on measurements provided by the Spectralis OCT allows physicians to better observe damage in the temporal areas, especially in patients with previous ON.
Purpose Hereditary progressive arthro‐ophthalmopathy, also called Stickler syndrome, is an autosomal dominant genetic disease affecting connective tissue collagen. It is considered the leading cause of inherited retinal detachment in all ages and produces multisystem manifestations such as premature arthritis, micrognathia or eye disorder. Methods A 31‐year‐old man reports hereditary progressive arthro‐ophthalmopathy. He presented degenerative myopia, congenital cataract and bilateral recurrent retinal detachments during childhood. At birth, he presented craniofacial anomalies, hearing loss and flat feet. When he was 6 years old, he suffered a retinal detachment associated with giant tear, which was treated with 20G pars plana vitrectomy and injection of silicone oil. At 22 years, the right eye presented another retinal detachment that was treated with silicone band placement, cryotherapy and C3F8 gas intravitreal injection. Two months later the retinal detachment recurred in right eye, needing 23 G pars plana vitrectomy and intravitreal silicone oil implantation. Results The patient presented several ophthalmic complications such as post‐surgical ocular hypertension and retinal tears requiring selective photocoagulation with argon laser in the right eye. Recently, genetic diagnosis was confirmed by COL11A1 gene mutation. Conclusion Development, prevention and therapeutic management of ophthalmic complications during 26 years follow‐up are presented. The importance of early diagnosis and follow‐up by a vitreoretinal surgeon are also emphasized.
Purpose The use of the frontalis muscle in a direct attachment is an alternative to the traditional techniques of frontalis muscle flap advancement. This new variant, which is considered the most physiological, shows better functional results, but it may associate entropion as adverse effect. Methods Through a unique incision on the eyelid crease or making another incision on the superciliar area, a flap of frontalis muscle is created and attached to the tarsal plate with a non‐resorbable suture. It is important to attach the flap to the upper third of the tarsal plate for a correct elevation of the eyelid. A lower union otherwise could create long term complications principally residuary progressive entropion, which until now was only seen after traditional techniques of aponeurosis reinsertion of elevator muscle. We present two case reports showing severe ptosis after frontalis muscle flap direct suspension in which a medium third of the tarsal plate union was performed. Results Both patients showed progressive entropion which needed correction through surgery. Conclusion To prevent entropion in the frontalis muscle flap direct advancement, the muscle flap should be attached to the upper third of the tarsal plate, which allows physiological distribution of the tractional force in spite of maintaining the vertical vector, preventing the eyelid margin inversion.
Purpose The corpus callosum (CC), with its central position in the cerebrum, has an essential role in relaying sensory, motor, and cognitive information from homologous brain regions across cerebral hemispheres. Corpus callosum agenesis (CCA) is a rare congenital malformation which is caused by an alteration in embryonic development. Methods We report the case of a 3 year old child who was diagnosed of complete corpus callosum agenesis with a normal karyotype. The neurological findings were spastic tetraparesis with dystonia, several delayed psychomotor and epilepsy. In ophthalmology examination he presented esotropia, bilateral optic nerve hypoplasia, delayed visual evoked potential flash type and altered corneal sensibility in both eyes which is manifested clinically by recurrent corneal ulcers and epithelial disruption associated with stromal edema. Results After Neurotrophic keratopathy suspected, treatment with autologous serum was decided and response to treatment was favorable in both eyes with closure of ulcers and good management of symptoms. CCA has also been described in association with other ocular abnormalities such as optic nerve hypoplasia, retinal detachments, cataracts, morning glory syndrome, iris and optic nerve colobomas, among many others. Conclusion In all patients diagnosed with agenesis of the corpus callosum, the possible alteration of corneal sensitibility is a fact that will be suspected to perform early diagnosis and appropriate treatment and follow‐up.
Purpose To present a case report of a patient with atypical presentation of a conjunctival melanoma as an amelanotic tumor. Methods A 82‐year‐old female presenting a large amelanotic tumor in inferior tarsal conjunctiva of the right eye was referred to our hospital. Previous histological analysis diagnosed intraepithelial carcinoma. Imaging digital analysis techniques showed infiltration of the extrinsic ocular muscles but not the scleral tissue. Excisional biopsy was obtained by removing the tumor with free margins and preserving as many unaffected tissue as possible. Amniotic membrane graft was used to cover the surgical injury. Results Histopathological diagnosis confirmed amelanotic conjunctival melanoma. Systemic evaluation with imaging techniques (MRI, TC scan, Ecography…) revealed liver and kidney masses suggestive of metastasis and chemotherapy was prescribed to control the disease. Ophthalmological controls showed remission of tumor for 4 months, but new conjunctival masses appeared. At the present the patient is treated with palliative chemotherapy. Age and systemic status do not allow aggressive therapies in this patient. Conclusion Amelanotic melanoma is an atypical subtype of melanoma lacking of pigmentation. Its macroscopic aspect makes it almost impossible to clinically distinguish this tumor from less aggressive tumors, such as intraepithelial carcinomas. The diagnosis delay makes early treatment difficult in this malignant tumors.
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