Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.

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.

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

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.

Dynamics of blood count after rheohemapheresis in age-related macular degeneration: possible association with clinical changes.

BACKGROUND: Rheohemapheresis (RHF) is a method that can stop the activity of the dry form of age-related macular degeneration (AMD). The pathophysiologic mechanisms are not well understood, and the effects of the RHF procedures extend beyond the time of the individual procedures. PATIENTS AND METHODS: We present the data for 46 patients with AMD treated with a series of 8 rheohemapheretic procedures. Blood count parameters were measured before the first and the last procedures. The clinical effect was judged by changes in the drusenoid pigment epithelium detachment (DPED) area before and after the rheopheretic sessions. RESULTS: Rheopheresis caused a decrease in hemoglobin (P<0.001), a decrease in leukocytes (P<0.034), and an increase in platelets (P<0.005). We found a negative correlation between the amount of platelets and their volume (P<0.001, Pearson correlation coefficient: -0.509). We identified the platelet/MPV ratio as a good predictor of the clinical outcome. Patients with a platelet/MPV ratio greater than 21.5 (before the last rheopheresis) had a significantly better outcome (P=0.003, sensitivity of 76.9% and specificity of 80%). CONCLUSION: Several basic blood count parameters after RHF can be concluded to significantly change, with some of those changes correlating with the clinical results (reduction of the DPED area).

Experience with extracorporeal elimination therapy in myasthenia gravis.

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 13 months of therapy, and the other 4 patients were stabilized without myasthenic crises after 6-9 years 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).

Changes of visual function and visual ability in daily life following cataract surgery.

PURPOSE: To examine best corrected visual acuity (BCVA), contrast sensitivity (CS) and functional visual complaints in early cataract and after the cataract surgery. PATIENTS AND METHODS: 53 eyes with early cataract (BCVA 20/30: Snellen charts) were examined before the surgery as well as 12 months after the surgery. BCVA was tested using logMAR chart. CS was examined using VCTS chart in 6 spatial frequencies. Influence of glare was tested using BAT. Patients' subjective visual functions were evaluted using a questionnaire (distance vision, near vision, mesopic vision and glare conditions). 22 subjects were examined as control group. RESULTS: BCVA was 0.52 (0.22-1.05) preoperatively and 0.83 (0.37-1.26) postoperatively. BCVA in patients in both terms was significantly lower compared to the control group. CS in patients before surgery was significantly lower compared to controls, postoperatively improved significantly and was only nonsignificantly lower compared to controls except for the highest spatial frequency. Glare had only nonsignificant influence. The questionnaire scores were correlated with visual performance in both terms. CONCLUSIONS: The significant improvement of both BCVA and CS suggest that cataract surgery improves quality of life in early cataract. Questionnaire should be considered as adjuncts to BCVA and CS in evaluating early cataract.