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PurposeTo investigate the possibility of including the presence of choroidal abnormalities detected by infrared reflectance as a new diagnostic criterion for neurofibromatosis type 1 (NF1).MethodsA cross‐sectional study was carried out in 24 eyes of 12 patients diagnosed with NF1 using the criteria of the National Institutes of Health (NIH). A group of 12 healthy individuals of equivalent age and sex served as control. The presence and number of visualized choroidal abnormalities were evaluated by Heidelberg optical coherence tomography (OCT) with infrared reflectance (NIR) as well as the presence of iridian Lisch nodules by slit lamp examination.ResultsNIR by OCT shows the presence of choroidal hyperreflective nodules in all the patients diagnosed with NF1, while these choroidal abnormalities are not observed in any control. This finding is more frequent than the presence of iridian Lisch nodules.ConclusionsHyperreflective nodules detected by NIR appear more frequently than Lisch nodules in NF1. The study suggests that it could be considered as a new diagnostic criterion for NF1.
Purpose: Choroideremia (CHM) is an inherited retinal dystrophy with an X‐linked inherited patron. It presents changes in the outer retina and choroid. CHM has a typical fundus appearance with preservation of the central retina, that progresses over the years. Fundus autofluorescence (FAF) shows the changes in the pigment distribution not only in patients but also in carriers. We present an 8‐year follow‐up of two boys affected by the disease. Methods: We studied a family with two cousins referring visual loss and nyctalopia and presented clinical findings of CHM at 11 and 10 years old. Their mothers referred that their deceased father had an important loss of visual acuity (VA) and that he had been diagnosed of Retinitis Pigmentosa. They were diagnosed of CHM with an undescribed mutation in the CHM gene c.1083_1084dupT (p.L362Sfs*56) at the Xp21.2 location. We present the patients and the carriers follow‐up. Results: During 8 years one of the patients had a progressive loss of VA. He presented a high myopic refraction and retinal changes that could be related to both conditions. His macular function decreased during the years with loss of retinal sensitivity evaluated by MAIA microperimetry, with Multifocal ERG showing a marked diminution on the central peak. His cousin has not presented important changes during the follow‐up time, preserving macular sensitivity and central visual field. Both mothers show a different AF pattern, with one geographic pattern and another sparse mottled on periphery. Carriers have not changed during these 8 years, neither in their retinal function nor in the anatomical findings. Conclusions: Evolution in CHM disease could differ in patients affected by the same mutation. Myopic defect may increase the retinal damage, with a more aggressive evolution.
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: Blebitis is the infection of the valve created in glaucoma filtering surgery. Only 4 cases have been described that refer to ophthalmic infections caused by A. ustus, the pathogen demonstrated in the cultures in this case. Methods: We present the case of a 73‐year‐old woman with a history of hypertension, dyslipidaemia, hyperuricaemia, hypothyroidism and glaucoma in both eyes under maximum topical treatment, despite which she had elevated intraocular pressure (IOP) and structural progression in the right eye (RE). Trabeculectomy with mitomycin‐C (MMC) was performed in RE. After 36 days, the patient came to the emergency department with a slightly painful red and secretions in RE. Examination revealed a whitish bleb, hyperfiltration, fibrin in the anterior chamber and mild corneal oedema. The vitreous was not found to be involved at any time. A conjunctival swab was taken and treatment was started and the patient was admitted for blebitis 3 days later. Two anterior vitrectomies were necessary, the first with collection of aqueous humour (AH) samples and intravitreal injection of vancomycin, the second, after 3 weeks, with phacoemulsification (leaving the patient in aphakia), collection of AH and vitreous samples and intravitreal injection of voriconazole with the addition of oral fluconazole. Results: Eleven weeks after the first surgery Aspergilus ustus was isolated in vitreous humour samples. After 1 year of follow‐up the patient has visual acuity (VA) of light perception in RE, ptisis bulbi, hypotonia, without pain, discomfort, signs of infection or any other symptoms. Together with her it was decided to perform enucleation. Conclusions: Blebitis is a potentially fatal complication whose risk does not decrease over the years. Being alert to warning signs and symptoms is paramount for early detection and optimal management. To our knowledge this would be the first reported case of A. ustus blebitis.
PurposeTo compare corneal densitometry obtained using Scheimpflug imaging in the eyes of patients with Fuchs' Endothelial Corneal Dystrophy (FECD) versus the eyes of controls without corneal pathology.MethodsAn observational cross‐sectional case‐control study was carried out on 26 eyes of 14 patients with FECD, and 20 eyes of 11 controls in which corneal pathology had previously been ruled out. All patients underwent a Scheimpflug corneal tomography with Pentacam HR. An analysis of the corneal densitometry results is performed by corneal layers divided into anterior (120 µm), central and posterior (60 µm) and in different areas of concentric circumferences: 0–2 mm; 2–6 mm; 6–10 mm; 10–12 mm.ResultsIn the FECD group, the mean backscatter of light was higher than the control group in the circumferences of 0–2 and 2‐6 mm in the anterior, central and posterior layers (p < 0.05). No statistically significant differences were found in the 6–10 and 10–12 mm circumferences. In the posterior layer, the total backscatter average was higher in the FECD group (p < 0.05).ConclusionsPatients with FECD present higher corneal densitometry values than subjects without corneal pathology in the posterior layer of the cornea and in the central circumferences of the anterior, central and posterior layers.
PurposeThe purpose of this study is to carry out a comparative study of corneal densitometry (COD) using Pentacam HR in two groups of patients. A control group of normal eyes where corneal pathology has been ruled out and another group of patients diagnosed with keratoconus (KC) who have not received corneal Cross‐Linking as treatment.MethodsThe sample consists of 30 eyes diagnosed with keratoconus compared to 30 eyes with normal corneas (N). The results are studied using Pentacam HR, which has a double Scheimpflug chamber. Patients are classified into 2 groups, ruling out corneal pathology in the control group. COD is measured in a 12mm diameter area, divided into concentric annular zones and different depths. COD is used to describe the characteristics of corneal tissue and makes it possible to quantify the degree of transparency of the corneal tissue.ResultsThere are significant differences between the groups after the COD examination. In the average of rings and total layers, an increase in total COD is observed in the eyes diagnosed with keratoconus compared to the normal ones (N = 15.71, KC = 21.05). When studied in layers, an increase in densitometry is also seen in the keratoconus group. The front layer (N = 21.61, KC = 29.13), the middle layer (N = 14.49, KC = 18.70) and the back layer (N = 11.04, KC = 14.57).ConclusionsThe corneal densitometry map shows total higher values in eyes with keratoconus compared to healthy eyes. The difference is most marked in the anterior layer of the cornea.References1. Maurice DM. The structure and transparency of the cornea. J Physiol. 1957;136:263–286.2. Shen Y, Han T, Jhanji V, Shang J, Zhao J, Li M, et al. Correlation between corneal topographic, densitometry, and biomechanical parameters in keratoconus eyes. Transl Vis Sci Technol. 2019;8(3):12.3. Rabinowitz YS. Keratoconus. Surv Ophthalmol. 1998;42(4):297–319.4. Lopes B, Ramos I, Ambrósio R Jr. Corneal densitometry in keratoconus. Cornea. 2014;33(12):1282–6.5. Koc M, Tekin K, Tekin MI, Uzel MM, Kosekahya P, Ozulken K, et al. An early finding of keratoconus: Increase in corneal densitometry: Increase in corneal densitometry. Cornea. 2018;37(5):580–6.
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