Purpose: To describe a clinical case of unilateral and intermittent exophthalmos of subacute onset and persistent course. Methods: A 43‐year‐old woman who was referred to the orbit section due to a sensation of protrusion of the left eye (LE) that increases when bending down. Shee also reports that she hears an intermittent murmur. It is not accompanied by eye pain or blurred vision. She evidenced it a few months ago, not being related to any traumatic event. She has no personal or family history of interest. It was observed with the patient sitting that the LE seemed to protrude more than the RE. Exophthalmometer measurement revealed a 2 mm proptosis. When the patient was lying on her left side, the exophthalmos increased as the minutes passed. It was a reducible but not pulsatile exophthalmos. No murmur was observed during the examination. The rest of the ophthalmological examination showed no alterations. Given the suspicion of intermittent exophthalmos due to a left orbital tumour, it was decided to perform a contrast‐enhanced CT scan that revealed a varicose venous lesion with an intraconal component and slight extraconal prolongation in the Valsalva sequences. Results: Due to the difficult surgical access, the small size and the mild symptoms, having ruled out the presence of haemorrhage, varicose thrombosis or compression of the optic nerve, it was decided to carry out clinical follow‐up. Conclusions: Clinical suspicion of orbital varicocele in a case with typical symptoms is essential. Orbital CT with contrast in Valsalva sequences is one of the most used diagnostic test. Good clinical follow‐up is necessary in cases with mild symptoms. References Howells MS, Sharma R. Orbital varices. BMJ Case Rep. 2019;12(12):e232887. doi: 10.1136/bcr‐2019‐232 887. PMID: 31818898; PMCID: PMC6904158. Shchurova IN, Pronin IN, Melnikova‐Pitskhelauri TV, Serova NK, Batalov AI, Solozhentseva KD. Orbital'nyi venoznyi varikoz: sovremennye metody diagnostiki i differentsial'nyi diagnoz [Orbital venous varices: modern diagnostic methods and differential diagnosis]. Zh Vopr Neirokhir Im N N Burdenko. 2020;84(6):33–48. Russian. doi: 10.17116/neiro20208406133. PMID: 33306298.
Purpose: To describe the presentation and management of gliomas of both optic nerves in a paediatric patient with neurofibromatosis type 1 (NF1). Methods: A 4‐year‐old female patient referred for ophthalmological evaluation due to a recent diagnosis of neurofibromatosis type 1. She presented better corrected visual acuity (BCVA) of 20/40 in both eyes (OU). Symmetrical and normoreactive pupils, normal extrinsic ocular motility, no proptosis or exophthalmos. In biomicroscopy Lisch nodules are observed in OU. Funduscopy of normal appearance except slight pallor of both optic papillae Refraction measurements with cycloplegia showed anisometropia: Right eye: +0.75–0.25 at 180°; Left eye: +1.75–2.75 at 170°. Stereopsis: 120 s of arc. Correction is prescribed and a follow‐up visit is scheduled. In subsequent visits we found a slight decrease in BCVA (20/50). In the Optical Coherence Tomography (OCT) we observed a clear decrease in the thickness of the retinal nerve fibre layer (RNFL) in the temporal sector. Visual campimetry and colour vision test cannot be performed Because of the patient's age. Due the clinical situation of decreased BCVA without justifiable cause in a patient with NF1, Magnetic Resonance Imaging of the brain and orbit is requested and a fusiform thickening of both optic nerves in their intraorbital portions with prolongation towards the optic chiasm is evidenced. Results: Due the clinical progression and deterioration on the RNFL OCT tests, an interconsultation with the Paediatric Oncology Department was made and it was decided to start systemic treatment with vinblastine. Conclusions: A complete ophthalmological examination adjusted to age is currently considered to be of choice in patients with NF1, being necessary annually until the age of 8 years and every 2 years until the age of 18. However, this examination in younger children, who are at greatest risk of developing gliomas, can be complex and requires experience.
PurposeDue to its low prevalence Fundus albipunctatus (FA) constitutes a diagnostic challenge for any ophthalmologist. FA belongs to the heterogeneous group of "flecked retinal syndromes" characterised by the presence of a whitish‐yellowish stippling, located in the periphery in FA respecting the macular area with normal papilla and vascularisation. It is a congenital form of non‐progressive night blindness with autosomal recessive inheritance mostly caused by mutations in the RDH5 gene. Electroretinogram (ERG) shows an altered rod response in the dark that normalises with scotopic adaptation.MethodsWe present the case of a 12‐year‐old boy who was referred to our department for retinopathy under consideration. Ophthalmological examination showed a visual acuity of unity in both eyes according to the decimal scale, highlighting in the fundus a peripheral whitish stippling respecting the posterior pole with no other alterations. Given the clinical features suggestive of AF, additional tests were performed.ResultsMultifocal and Ganzfeld bell ERG showed altered rod response with recovery of the scotopic adaptation response. There was an absence of autofluorescence (AF) indicating reduced retinal 11‐cis input to the photoreceptors. Fleckes on Optic Coherence Tomography (OCT) appeared as hyper‐reflective lesions. We confirmed the diagnosis by genetic study showing RDH5 mutation. It was not possible to study relatives.ConclusionsFA is a rare pathology whose characteristics must be known in order to suspect and properly diagnose it, distinguishing it from other similar diseases with a worse prognosis that may require a different follow‐up and approach, such as retinitis punctata albescens or fundus flavimaculatus, for which ERG, OCT and FA play a fundamental role.
PurposeTo compare corneal densitometry obtained using Pentacam HR in the eyes of patients with keratoconus treated with corneal collagen cross‐linking (CXL) versus the eyes of healthy controls.MethodsAn observational case‐control study was carried out on 18 eyes of 15 patients with keratoconus treated with CXL (classical therapy), and 30 eyes of 15 healthy controls, in which ocular pathology had previously been ruled out. All patients underwent a Scheimpflug corneal tomography with Pentacam HR. For the analysis, the backscattering of light is measured in the anterior (120 µm) central and posterior (60 µm) corneal layers.ResultsThe group of patients treated with CXL therapy were 11 men and 4 women, the mean age was 28.06 years (range 17–44 years). In the CXL group the mean light scattering in the previous layer was 24.35 ± 1.074 (C: 21.6 ± 0.68 p > 0.05); central layer 14.68 ± 0.53 (C: 14.48 ± 0.41 p <0.05); posterior layer 10.75 ± 0.35 (C: 11.04 ± 0.36 p < 0.05) and full thickness 16.6 ± 0.62 (C: 15.71 ± 0.44 p < 0.05).ConclusionsThere are statistically significant differences in the densitometry values of the anterior layer of patients with keratoconus treated with CXL compared to healthy controls. We did not find statistically significant differences for the central, posterior and total variables.
Purpose: We present an atypical clinical case of high myopia associated with divergent and vertical strabismus in the left eye (LE). Methods: A 50‐year‐old woman with a history of high myopia and deep amblyopia in the left eye (LE) referred to our center for surgical evaluation of LE exotropia. The clinical examination shows visual acuity (VA) of 10/10 in the right eye (RE) and light perception (LP) in LE. The Cover Test found an exotropia and hypotropia of the LE. In the funduscopic exam of the LE an advanced myopic choroiditis can be seen. Biometry shows an axial length (AL) of 25.10 mm in the RE and 32.25 mm in the LE. A magnetic resonance imaging (MRI) is performed where no pathological findings are evident. It was decided to intervene on the patient with divergent and vertical strabismus of the LE. Under general anaesthesia, a 7 mm shortening of the medial rectus muscle is performed with superior displacement of the insertion. In addition, a 9 mm retroinsertion of the lateral rectus muscle of the LE is performed with plication of the muscle to its anatomical position. Results: After surgery, the patient presented orthotropia without rectification. Conclusions: Exotropia‐hypotropia complex can be related with high myopia. The combination of resection and displacement of the insertion of the medial rectus together with recession and plication of the lateral rectus to its anatomical position was found to be effective in correcting the ocular deviation. References 1. Monga S, Kekunnaya R, Sachdeva V. Exotropia‐hypotropia complex in high myopia. J Pediatr Ophthalmol Strabismus. 2013;50(6):340–6. doi: 10.3928/01913913‐20 131 125‐01. PMID: 24669372. 2. Ganesh SC DO DNB, Jayadev NA MS, Oguego N M Ophthal, Narendran K DO DNB, Rao SG MS. Nasal loop myopexy as a primary procedure to correct exotropia hypotropia complex in high myopia. Strabismus. 2019 Dec;27(4):223–229. doi: 10.1080/09273972.2019.1676794. Epub 2019 Oct 15. PMID: 31612771.
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