Search

Niemann-Pick disease is a rare, autosomal recessive inherited lysosomal storage disorder. The pathophysiological background for this condition is the deficiency or reduced function of the enzyme sphingomyelinase, as well as a deficiency in the intracellular cholesterol transporter protein. Due to the breakdown defect, sphingomyelin and cholesterol accumulate in the lysosomes of cells. The disease is divided into 5 subtypes (A, A/B, B, C, D). The authors present the case of a 24-year-old young man diagnosed with Niemann-Pick disease type B as a child, focusing on the ophthalmic manifestation of the disease. During the examination of the patient, fundus photographs and fundus autofluorescence imaging were taken, and optical coherence tomography (OCT), optical coherence tomography angiography (OCTA), and visual field (perimetry) examinations were performed. The characteristic macular halo and the cherry-red spot in the fovea were clearly visible during ophthalmoscopy and on the fundus photographs. The OCT images showed focal thickening with high reflectivity in the ganglion cell layer corresponding to the macular halo, and the area of the foveola was spared. With visual field examination, an intact field of vision was found on both eyes. Similar to the presented patient, symptoms in patients with the B subtype are milder, and besides the visceral symptoms, there are no neurological symptoms, and the specific ophthalmic abnormalities do not cause visual impairment. Currently, Niemann-Pick disease is considered a rare disease, and the diagnosis of the patients is often delayed or even missed due to non-specific or mild symptoms. Through consultation between medical specialties, ophthalmological examination can also contribute to the correct diagnosis in cases with mild general symptoms. Timely diagnosis can potentially lead to mitigation of symptoms thanks to the ever-expanding therapeutic options, stabilization of the disease progression, and increase of the patients' life expectancy. Orv Hetil. 2023; 164(46): 1838-1844.

Solar retinopathy is the photochemical and thermic injury of the retinal photoreceptors and the pigment epithelium caused by ultraviolet (UV) radiation. As a consequence, the most common symptoms are visual acuity deterioration, blurred vision and positive scotoma. Optical coherence tomography (OCT), microperimetry and fluorescein angiography (FLA) are helpful in determining the diagnosis. Authors present an 18-year-old male having central scotomas affecting both eyes who presented at the Department of Ophtalmology of Semmelweis University. OCT scans revealed a localised defect and hyperreflectivity of certain retinal layers and microperimetry examination detected decreased retinal sensitivity consistent with the lesions. After a follow-up of 6 months, the defect of the right eye became more subtle and the one on the left disappeared completely. Microperimetry results correlated with OCT findings. Subjective symptoms on the right eye decreased significantly and they do not affect his daily life anymore, symptoms on the left eye discontinued. Currently, no specific therapy exists for solar retinopathy. Symptoms and defects in favourable cases normalise in 3–6 months which highlights the importance of public health education and prevention. Orv Hetil. 2020; 161(16): 632–636., (© Szerző(k)/The Author(s))

Retinal arterial occlusion causes acute, painless vision loss, and it requires immediate emergency care. There are two separate arterial systems (retinal and ciliary) in the retina, and in most cases only the central retinal artery and its branches supply blood to the inner retinal layers. Cilioretinal artery is an anatomical variant, which can also supply blood to the macula from the ciliary arterial system, and in the case of a retinal arterial occlusion, the cilioretinal artery could save central vision. We report a case of a 67-year-old woman who suffered a central retinal arterial occlusion while having a patent cilioretinal artery and she had a complete recovery of her central visual acuity. A series of fundus photography and optical coherence tomography images are presented that were taken during follow-up. The patient's complaints started one week before she presented in our department therefore acute therapy was not given. However, during the course of the follow-up her status gradually improved, and she finally regained 1,0 (20/20) visual acuity. In the presence of a cilioretinal artery following a central retinal arterial occlusion, there is a chance of visual acuity preservation. Orv Hetil. 2019; 160(29): 1146-1152.

Introduction: Measurement of central critical flicker-fusion frequency is a common screening test for eye diseases and additionally it can serve as a useful diagnostic test in numerous neurological and internal diseases. The test might also be used for monitoring purposes., Aim: The aim of the authors was to evaluate a digital central critical flicker-fusion frequency measuring device (IMEA ADR III) in 30 young, healthy Hungarian subjects., Method: After a general ophthalmological screening examination, monocular central critical flicker-fusion frequency was measured with four colours. Measurements were carried out on two separate days in three sessions under standardized conditions. Intrasession, intersession and intervisit variabilities, differences in central critical flicker-fusion frequency using the four colours and the effect of certain other influencing factors were determined., Results: There were no statistically significant differences between sessions in the mean and standard deviation of the measurement sets. The central critical flicker-fusion frequency threshold for red colour was significantly lower than for other colours, and the threshold for blue colour was significantly lower than for green. There were no significant differences regarding sex, age, iris colour, and smoking indicating that these factors did not influence the central critical flicker-fusion frequency threshold in these subjects., Conclusions: Measurement results with the device are reliable and reproducible in healthy, young population in separate sessions.

Choroidal folds present as parallel bright and dark lines, which may be detected with funduscopy. Optical coherence tomography, red free fundus photography, autofluorescence and fluorescein angiography may be also helpful to establish the diagnosis. The authors present the case of a 70-year-old male who was evaluated because of a 1-month history of blurred vision on his right eye. Dilated fundus examination revealed choroidal folds in both eyes, which failed to affect visual acuity. No neurological pathologies were found. There was no change in the patient condition during a follow-up period of 6 months. The authors note that choroidal folds are often not recognized because they are usually asymptomatic. There are several possible causes which should be considered. The diagnosis of idiopathic choroidal folds is based on the exclusion of other pathologies. Observation of the patient's visual acuity and monitoring for fundus changes are needed.

Aim: To compare macular thickness measurements with spectral-domain (Cirrus HD-OCT) and time-domain (StratusOCT) optical coherence tomography., Method: Macular thickness was measured in nine ETDRS subfields in the same eye of 20 healthy subjects using both instruments. Using Cirrus HD-OCT both the Macular Cube 512×128 and Macular Cube 200×200 protocol, using StratusOCT the Fast Macular Thickness Map protocol was performed. Reproducibility of all three measurement series was assessed and the average of the measurement series was compared on each field., Results: Measurement values obtained by StratusOCT were significantly lower than those obtained by Cirrus HD-OCT (p<0.001) in all subfields. Correlation coefficient between the results obtained by the two protocols of Cirrus HD-OCT was 0.977., Conclusions: By using Cirrus HD-OCT we could observe better repeatability than with StratusOCT. Using Cirrus HD-OCT significantly higher measurement values could be obtained in all subfields than those measured with Stratus. Using different OCT instruments we get significantly different values, therefore care needs to be taken when comparing data.