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This work presents a quick clinical protocol for dark-adapted chromatic (DAC) perimetry as well as a novel clinical tool, scotopic chromatic pupil campimetry (CPC). The goal of the study was to explore the applicability of these methods in a clinical setting, their test-retest repeatability, and the congruence of the results. Local rod sensitivity was assessed at 36 locations within 30° eccentricity of the visual field in 15 healthy subjects (mean age 43 ± 16 years; 7 females and 8 males) with DAC perimetry (red and cyan stimuli) and CPC 2 times in repeated measurements. The duration of individual measurements was 370 ± 5 s for CPC and 366 ± 62 s for DAC perimetry. The intraclass correlation (ICC) coefficient was 0.53 for DAC perimetry cyan stimuli, 0.67 for red stimuli, and 0.93 for CPC. However, the spatial resolution of CPC was substantially smaller than in DAC perimetry. We did not find a correlation of DAC perimetry and CPC measurements on the global or the local level. In comparison to DAC perimetry, CPC shows a superior intervisit repeatability in detecting functional changes in the rod population in an objective way with lower spatial resolution. Our results also indicate that these 2 methods measure the rod function in different ways and could thus constitute complementary scotopic functional diagnostics. [ABSTRACT FROM AUTHOR]

Purpose: Danon disease (DD) is a rare X‐linked disorder caused by pathogenic variants in LAMP2. DD primarily manifests as a severe cardiomyopathy. An early diagnosis is crucial for patient survival. The aim of the study was to determine the usefulness of ocular examination for identification of DD. Methods: Detailed ocular examination in 10 patients with DD (3 males, 7 females) and a 45‐year‐old asymptomatic female somatic mosaic carrier of a LAMP2 disease‐causing variant. Results: All patients with manifest cardiomyopathy had pigmentary retinopathy with altered autofluorescence and diffuse visual field loss. Best corrected visual acuity (BCVA) was decreased (<0.63) in 8 (40%) out of 20 eyes. The severity of retinal pathology increased with age, resulting in marked cone‐rod involvement overtime. Spectral‐domain optical coherence tomography in younger patients revealed focal loss of photoreceptors, disruption and deposition at the retinal pigment epithelium/Bruch's membrane layer (corresponding to areas of marked increased autofluorescence), and hyperreflective foci in the outer nuclear layer. Cystoid macular oedema was seen in one eye. In the asymptomatic female with somatic mosaicism, the BCVA was 1.0 bilaterally. An abnormal autofluorescence pattern in the left eye was present; while full‐field electroretinography was normal. Conclusions: Detailed ocular examination may represent a sensitive and quick screening tool for the identification of carriers of LAMP2 pathogenic variants, even in somatic mosaicism. Hence, further investigation should be undertaken in all patients with pigmentary retinal dystrophy as it may be a sign of a life‐threatening disease. [ABSTRACT FROM AUTHOR]

Purpose To evaluate the clinical efficiency, safety and painfulness of retinal laser photocoagulation employing a pattern scanning laser system Pascal given in a single-session versus conventional laser multiple-session treatment of the same patient with diabetic retinopathy during 12-month follow-up. Methods The cohort included 60 eyes in 30 patients treated at the Ophthalmology Clinic, Faculty Hospital Ostrava, from 2008 to 2013. Panretinal laser coagulation was performed on one eye using the multispot panretinal photocoagulation given in a single-session system Pascal (OptiMedica, Santa Clara, California). On the other eye laser treatment was carried out by the classic conventional multiple-session method. Results The performance of Pascal panretinal laser coagulation was evaluated as significantly less painful (visual scale of pain was 3.28 ± 1.9) than the performance of conventional photocoagulation (visual scale of pain was 3.93 ± 1.88) with similar efficiency. Distribution of progression of diabetic retinopathy in individual patients was very similar in both groups under comparison, and was strictly paired in 24 of the 30 patients at the end of 1-year follow-up. Conclusion Laser photocoagulation of the retina with the use of short impulse durations and patterns in patients with diabetic retinopathy given in one session possesses similar efficiency to that of conventional retinal photocoagulation in multiple sessions. The single session treatment is also better tolerated by patients and in addition to this, it shortens the performance of the whole therapy, which potentially saves considerable funds of all subjects participating in the process of treatment. [ABSTRACT FROM AUTHOR]

Abstract: We describe our experience with plasma exchange (PE) and immunoadsorption in patients with myasthenia gravis. The group of 27 patients consists of 21 patients treated with PE and 6 patients who received immunoadsorption. PE therapy led to stabilization in 20 patients. In patients treated with immunoadsorption, therapy could be discontinued in 2 patients after 13months of therapy, and the other 4 patients were stabilized without myasthenic crises after 6–9years of therapy. Extracorporeal elimination therapy through PE or immunoadsorption is effective and sometimes life saving and is safe in the hands of an experienced team (6% complication rate). [Copyright &y& Elsevier]

The aim of this study was to identify RS1 pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of RS1 was directly sequenced and segregation of the identified mutations was performed in available family members. In total, 12 disease-causing variants within RS1 were identified; of these c.20del, c.275G>A, c.[375_379del; 386A>T], c.539C>A and c.575_576insT were novel, all predicted to be null alleles. The c.539C>A mutation occurred de novo. Three patients (aged 8, 11 and 19 years) were misdiagnosed as having intermediate uveitis and treated with systemic steroids. Repeat spectral domain optical coherence tomography examinations in four eyes documented the transition from cystoid macular lesions to macular atrophy in the fourth decade of life. Four individuals were treated with topical dorzolamide and in two of them, complete resolution of the cystic macular lesions bilaterally was achieved, while one patient was noncompliant. Rebound phenomenon after discontinuation of dorzolamide for 7 days was documented in one case. Misdiagnosis of XLRS for uveitis is not uncommon; therefore, identification of disease-causing variants is of considerable benefit to the affected individuals. [ABSTRACT FROM AUTHOR]