Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.

Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic or syndromic with complex clinical phenotypes. Three unrelated Polish probands affected with retinitis pigmentosa coexisting with cerebellar ataxia were recruited for this study. Clinical heterogeneity and delayed appearance of typical disease symptoms significantly prolonged the patients' diagnostic process. Therefore, many clinical and genetic tests have been performed in the past. Here, we provide detailed clinical and genetic analysis results of the patients. Whole-exome sequencing (WES) and targeted NGS analysis allow the identification of four novel and two previously reported variants in the following genes: ABHD12, FLVCR1, and PNPLA6. The use of next-generation sequencing (NGS) methods finally allowed for confirmation of the clinical diagnosis. Ultra-rare diseases such as PHARC, PCARP, and Oliver-McFarlane syndromes were diagnosed in patients, respectively. Our findings confirmed the importance of the application of next-generation sequencing methods, especially in ultra-rare genetic disorders with overlapping features.

Acute retinal pigment epithelitis in 18 years old patient.

We report case of acute retinal pigment epithelitis (ARPE), a very rare ophthalmic disorder, which has a very good final visual prognosis. The 18 years old woman was examined by ophthalmologist for sudden visual decrease of vision and dark spot in visual field of her left eye. The best corrected visual acuity (BCVA) of the left eye at the initial diagnosis was 0.1 and after 4 months improved to 0.9. The diagnosis or ARPE was made on the basis of fundoscopy, fluorescein angiography, electroretinography and optical coherence tomography (OCT) examination.

[Disadvantageous course of ophthalmological changes in young women with long-lasting diabetes mellitus followed by the symptoms of anorexia nervosa]. / Niekorzystny przebieg zmian w narzadzie wzroku u mlodych kobiet z dlugo trwajaca cukrzyca i objawami jadlowstretu psychicznego.

PURPOSE: To present the course and progression of very severe proliferative retinopathy in young women with long lasting diabetes mellitus and symptoms of anorexia nervosa. MATERIAL AND METHODS: The data of 5 young women, in age 25-32 years, suffering from diabetes mellitus 15 to 29 years with intended weight lose. The progression of ophthalmological changes was observed, followed by considerable fluctuations of glucose blood. RESULTS: In the time of weight lose in all patients, the worsening of the visual acuity was observed and it was the first reason for ophthalmological check-up. The initial best corrected visual acuity was 0.1-0.9. The rubeosis of the iris, cataracts and proliferative retinopathy with intravitreal hemorrhage and tractional retinal detachment were observed. Despite the immediate ophthalmological treatment (lasertherapy, pars plana vitrectomy, criopexy and retinopexy) the useful visual acuity (>0.1) was maintained only in one eye. CONCLUSIONS: 1. In case of significant exacerbation of progression of ophthalmological changes in patients with long lasting diabetes mellitus and anorexia nervosa the monitoring of their psychological and physical conditions is essential. 2. In the case of weight lose in patients with long lasting diabetes mellitus the rigorous ophtalmological monthly consultations are obligate.

[Adult-onset vitelliform macular dystrophy (AVMD)--case report]. / Dystrofia zóltkowata dolkowo-plamkowa doroslych--opis przypadku.

PURPOSE: Adult onset vitelliform macular dystrophy (AVMD) was first reported by Gass in 1974. This paper presents rare case of AVMD, in 3 years course of observation. MATERIAL AND METHODS: Visual acuity of R.E. was 0.1 with metamorphopsias in Amsler-test., of L.E. was 1.0 sc. The metamorphopsias in LE were first noticed 3 years later. In ophthalmoscopy in LE typical a vitelliform-like macular lesion was seen, in RE faded vitelliform changes and the RPE atrophy around it. FA of RE showed typical hypofluorescent spot in the center of the macula with small hyperfluorescent spots around it, called corona sign. The same changes in FA of the LE were first noticed 3 years later. The OCT showed central thickening in the reflective band representing RPE in both eyes. The ERG and EOG results were normal. CONCLUSIONS: The ophthalmoscopic appearance of the AVMD is very similar to that in Best's disease. In our case the correlation between appearance of metamorphoses and changes in AF was presented.

The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy.

Background Gaucher disease (GD) is an autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. The presence of central nervous system disease is a hallmark of the neuronopathic forms of GD (types 2 and 3). Intraocular lesions (e.g. corneal clouding, retinal lesions, and vitreous opacities) have been infrequently reported in GD type 3 (GD3). Moreover, there are virtually no published data on the occurrence and natural course of intraocular lesions in GD3 patients treated with enzyme replacement therapy (ERT). Case presentation We describe the case of a 26-year-old Polish male with L444P homozygous GD3 (mutation c.1448T > C in the GBA1 gene) who developed fundus lesions despite 10 years of ERT. At the age of 23 years, a spectral domain optical coherence tomography (OCT) examination was performed which disclosed the presence of discrete lesions located preretinally, intraretinally in the nerve fiber layer, and in the vitreous body. A 3-year follow-up OCT examination has not shown any significant progression of the fundus lesions. Conclusions To the best of our knowledge, this is the first published report describing the occurrence of newly identified retinal and preretinal lesions occurring during long-term ERT in GD3. We recommend that a careful ophthalmic assessment, including a dilated fundus examination, should be included as part of annual follow-up in patients with GD3. Further studies are needed to understand the nature and clinical course of these changes and whether or not these intraocular findings have any predictive value in the context of neurologic and skeletal progression in GD3.

[Local involvement of the optic nerve by acute lymphoblastic leukemia]. / Miejscowa wznowa w obrebie nerwu wzrokowego ostrej bialaczki limfoblastycznej z grupy wysokiego ryzyka.

The leucemias quite commonly involve the eyes and adnexa. In some cases it causes visual complants. Both, the anterior chamber of the eye and the posterior portion of the globe may sites of acute or chronic leukemia and leucemic relapse. We report an unique case of a 14 years old leucemic patient who suffered visual loss and papilloedema, due to a unilateral local involvement within optic nerve, during second relapse of acute lymphocytic leuemia. In spite of typical treatment of main disease, the boy had died. The authors present typical ophthalmic features of the leucemia, too.

[Choroidal neovascularization in children--prevalence, diagnostics and treatment]. / Neowaskularyzacja podsiatkówkowa u dzieci--wystepowanie, diagnostyka, leczenie.

Choroidal neovascularization (CNV) belongs to the rare retinal disorders in children. Authors present 3 cases of CNV, which were diagnosed in patients between 12-15 years of age (2 females and 1 male). Complete ophthalmological examination including fluorescein angiography, indocyanine angiography and optical coherence tomography were performed in all cases. Laboratory tests to exclude the systemic diseases were also done. CNV in young people maybe a result of high myopia, angioid streaks, ocular histoplasmosis, trauma or it could be idiopathic. In our series, we found idiopathic CNV in 2 eyes and 1 CNV after traumatic choroidal break. Stabilization of visual acuity was achieved after argon laser treatment in 2 cases.

[Usefulness of new vitreous substitutes (F6H6, F6H8) in the vitreoretinal surgery]. / Wykorzystanie nowych substytutów ciala szklistego--semifluoranów (F6H6, F6H8)--w chirurgii witreoretinalnej.

The authors present a short review of the news from Polish and foreign medical literature on the subject of a new vitreous substitutes. They present mainly a modern vitreous substitute F6H6 and F6H8, which can be used for a long-term tamponade for complicated retinal detachment.

[Ocular complication in children with Stevens-Johnson syndrome]. / Powiklania oczne u dzieci i mlodziezy w ciezkich postaciach zespolu Stevensa-Johnsona.

PURPOSE: Presentation of serious cases of Stevens-Johnson syndrome (SJS) with acute and chronic ocular manifestations and methods of their treatment. MATERIAL AND METHODS: 3 children aged between 6 to 12 years. Follow-up time was from 5, months up to 6 years. CONSERVATIVE TREATMENT WAS: Symblepharon massage, topical antibiotics, steroids, artificial tears. In chronic stage mitomycin C as eye drops was use in one case. Surgical treatment--intubation of lacrimal ducts and removal of eye lashes were performed in 2 cases. RESULTS: In 2 cases, in which ophthalmological therapy was introduced very early, the results of treatment were very good. In one case with corneal neovascularization and posterior lid margin keratinization, the results of treatment were not satisfactory. CONCLUSIONS: 1. The children with SJS should be treated by ophthalmologists as soon as possible. 2. Some pathological changes of conjunctiva, cornea and lacrimal ducts disappeared after few weeks of intensive topical therapy often. 3. The results of treatment of cicatrical changes of lids, conjunctiva and neovascularization of the cornea were not satisfactory.

[Influence of Eqb 761 on the function of the retina in children and adolescent with long lasting diabetes mellitus--preliminary report]. / (146)Wplyw preparatu Egb 761 na czynnosc siatkówki u dzieci i mlodziezy z dlugo trwajaca cukrzyca insulinozalezna--doniesienie wstepne.

PURPOSE: Early detection of patological function of the retina, before anatomical changes, plays very important role in monitoring of visual complications in patients with diabetes mellitus. The aim of the study was the evaluation of anatomical and functional changes in visual organ in children and adolescents with long lasting diabetes mellitus type 1 and taking Egb 761 (Tanakan Beaufour Ipsen) as an adjuvant. MATERIALS AND METHODS: Group consists of 15 patients, age between 11 and 19 years, with diabetes mellitus lasting 6-12 years. All patients had full ophthalmologic examination and color vision tests (Panel D 15 saturated and desaturated). The examination was done 3 times, every 3 months. Egb 761 was given: 1 tablet - 3 times a day, during 3 months. RESULTS: No diabetic retinopathy was found. The results of color vision test were better after therapy (25% of pathological results) and 3 months later (only 4 % of patients). CONCLUSIONS: 1. Egb 761 seems to be good adjuvant in patient with long lasting diabetes mellitus. 2. Color vision tests are sensitive tests of the retinal function and are easy to perform.

Neurodegeneration of the retina in type 1 diabetic patients.

INTRODUCTION: The degeneration of retinal neurons and glial cells has recently been postulated in the pathogenesis of diabetic retinopathy. Optical coherence tomography (OCT) allows to perform qualitative and quantitative measurements of retinal thickness (RT) with identification of individual retinal layers. OBJECTIVES: We compared RT, retinal nerve fiber layer (RNFL) thickness, and ganglion cell layer (GCL) thickness obtained by OCT in type 1 diabetic patients with and without clinically diagnosed retinopathy. PATIENTS AND METHODS: The study included 77 consecutive patients with type 1 diabetes (39 men, 38 women; median age, 35 years [interquartile range (IQR), 29-42]; median disease duration, 10 years [IQR, 9-14]) and 31 age- and sex-matched controls. We measured RT in the fovea, parafovea, and perifovea, as well as RNFL and GCL thickness. We divided diabetic patients into 2 subgroups, i.e., those with diabetic retinopathy and without retinopathy. RESULTS: We observed thicker perifoveal retina (P = 0.05), mean RNFL (P = 0.002), inferior RNFL (P <0.0001), and superior and inferior GCL (P = 0.05 and P = 0.04, respectively) in diabetic subjects compared with the control group. We detected retinopathy in 23 diabetic patients (29%). Compared with patients without retinopathy, subjects with retinopathy had thinner parafoveal retina (P = 0.05), mean RNFL (P = 0.002), inferior and nasal RNFL (P = 0.002, P = 0.03), superior (P = 0.05) and inferior GCL (P = 0.006). Significant correlations were found between duration of diabetes and nasal RNFL thickness (r = -0.32, P = 0.004) and parafoveal RT (r = -0.47, P <0.001). CONCLUSIONS: The results might suggest the loss of intraretinal neural tissue in type 1 diabetic patients with retinopathy. Neurodegeneration in diabetic retinopathy is closly associated with disease duration.