scholarly journals A Rare Case of Stargardt’s Disease

2021 ◽  
Vol 48 (2) ◽  
pp. 76-80
Author(s):  
I. Mermeklieva ◽  
K. Kamenarova
Keyword(s):  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Correct Diagnosis ◽  
The Other ◽  
Missense Mutations ◽  
Full Field ◽  
Stargardt's Disease ◽  
Therapeutic Behavior ◽  
Stargardt’S Disease

Abstract Objective To describe a clinical case of rare eye diseases – Stargardt’s disease. Material and methods: A detailed clinical examination, fundus autofluorescence, optical coherence tomography and electrophysiological studies were performed. The clinical diagnosis was also genetically confirmed. Results A classic Stargardt’s disease phenotype was found in a 10-year old boy with decreased visual acuity, atrophy of the photoreceptors and retinal pigment epithelium layers in the macula, plus hypoautofluorescence in the fovea. In full-field ERG there was no diffuse cone involvement. Multifocal ERG demonstrated a lower cone activity in the area of the central macula in both eyes, which is characteristic for hereditary maculopathies and differentiates them from cone-rod dystrophies, in which generalized damage of the photoreceptors in the retina may be observed. The genetic studies identified two missense mutations: c.3113C> T (p.Ala1038Val) and c.1622T> C (p.Leu541Pro) in a cis-position and a missense mutation c.2588G> C (p.Gly863Ala) in the other allele of ABCA4 gene. The two pathogenic variants c.3113C> T and c.1622T> C formed a complex allele p. [A1038V; L541P], which was found in the genome of the asymptomatic mother. The other mutation c.2588G> C affects a highly conserved amino acid from the ABCA4 protein (p.Gly863Ala) and was inherited from the patient’s clinically healthy father, who was a heterozygous carrier. Conclusion The comprehensive clinical, electrophysiological and genetic testing of patients with rare hereditary retinal dystrophies is essential for the correct diagnosis and the choice of therapeutic behavior.

Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant

2021 ◽  
pp. 112067212110000
Author(s):  
João Esteves-Leandro ◽  
Sónia Torres-Costa ◽  
Sérgio Estrela-Silva ◽  
Renato Santos-Silva ◽  
Elisete Brandão ◽  
...  
Keyword(s):  
Rare Variant ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Pattern Electroretinogram ◽  
Fundus Photography ◽  
Cone Dystrophy ◽  
Ophthalmological Examination ◽  
Full Field ◽  
Visual Acuity Loss

Purpose: To describe the clinical, electrophysiological, and genetic findings of three Portuguese families with a rare variant in the KCNV2 gene resulting in “cone dystrophy with supernormal rod responses” (CDSRR). Methods: Retrospective clinical revision of five individuals from three unrelated families with CDSRR. Ophthalmological examination was described in all patients and included color vision testing, fundus photography, fundus autofluorescence (FAF) imaging, spectral domain-optical coherence tomography (SD-OCT), pattern electroretinogram (ERG), and full-field ERG. The mutational screening of the KCNV2 gene was performed with Sanger and Next Generation Sequencing. Results: All patients showed childhood-onset photophobia and progressive visual acuity loss with varying degrees of severity. In multimodal imaging, various degrees of retinal pigment epithelium disturbances and outer retinal atrophy, which tend to be worst with advancing age, were observed. Molecular screening identified a rare presumed truncating variant (p.Glu209Ter) in homozygosity in two families and in compound heterozygosity in a third family. Three patients showed ERG changes characteristic of CDSRR, however, two patients presented with incomplete electrophysiological features of the disease. Conclusion: A rare variant in the KCNV2 gene was identified in five patients from three Portuguese families. This variant often leads to a severe and progressive form of retinopathy. Considerable variability in the ERG responses among patients with this KCNV2 variant was observed.

scholarly journals USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 213
Author(s):  
Benedetto Falsini ◽  
Giorgio Placidi ◽  
Elisa De Siena ◽  
Maria Cristina Savastano ◽  
Angelo Maria Minnella ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Usher Syndrome ◽  
Collaborative Study ◽  
Staging System ◽  
International Standards ◽  
Full Field ◽  
Functional Studies ◽  
Cumulative Score

Usher syndrome type 2A (USH2A) is a genetic disease characterized by bilateral neuro-sensory hypoacusia and retinitis pigmentosa (RP). While several methods, including electroretinogram (ERG), describe retinal function in USH2A patients, structural alterations can be assessed by optical coherence tomography (OCT). According to a recent collaborative study, RP can be staged considering visual acuity, visual field area and ellipsoid zone (EZ) width. The aim of this study was to retrospectively determine RP stage in a cohort of patients with USH2A gene variants and to correlate the results with age, as well as additional functional and morphological parameters. In 26 patients with established USH2A genotype, RP was staged according to recent international standards. The cumulative staging score was correlated with patients’ age, amplitude of full-field and focal flicker ERGs, and the OCT-measured area of sub-Retinal Pigment Epithelium (RPE) illumination (SRI). RP cumulative score (CS) was positively correlated (r = 0.6) with age. CS was also negatively correlated (rho = −0.7) with log10 ERG amplitudes and positively correlated (r = 0.5) with SRI. In USH2A patients, RP severity score is correlated with age and additional morpho-functional parameters not included in the international staging system and can reliably predict their abnormality at different stages of disease.

scholarly journals Early Detection of Incipient Retinal Pigment Epithelium Atrophy Overlying Drusen with Fundus Autofluorescence vs. Spectral Domain Optical Coherence Tomography

2020 ◽  
Vol 2020 ◽  
pp. 1-8 ◽  
Author(s):  
Anabel Rodríguez ◽  
Marc Biarnés ◽  
Rosa M. Coco-Martin ◽  
Anna Sala-Puigdollers ◽  
Jordi Monés
Keyword(s):  
Optical Coherence Tomography ◽  
Retinal Pigment Epithelium ◽  
Median Time ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Geographic Atrophy ◽  
Optical Coherence ◽  
Rpe Atrophy ◽  
Sd Oct

Purpose. This study aims to find out which tool, fundus autofluorescence (FAF) or spectral domain optical coherence tomography (SD-OCT), is more sensitive in detecting retinal pigment epithelium (RPE) demise overlying drusen and can, therefore, help predict geographic atrophy (GA) appearance in Age-Related Macular Degeneration (AMD). Methods. A single-site, retrospective, observational, longitudinal study was conducted. Patients with intermediate AMD (iAMD) (large (>125 μm) or intermediate (63–125 μm) drusen with hyper/hypopigmentation) with a minimum follow-up of 18 months were included. Drusen with overlying incipient RPE atrophy were identified on SD-OCT defined as choroidal hypertransmission or nascent geographic atrophy (nGA). These selected drusen were, then, traced backwards in time to determine if incipient RPE atrophy overlying drusen was observed on FAF (well-demarcated region of absence of autofluorescence) before, simultaneously, or after having detected the first signs of incipient RPE atrophy on SD-OCT. The number of drusen in which signs of incipient RPE atrophy was detected earlier using FAF or SD-OCT was compared. The time elapsed from the identification with the more sensitive method to the other was recorded and analyzed. Results. One hundred and thirty-three drusen in 22 eyes of 22 patients were included. Of these, 112 (84.2%) drusen showed choroidal hypertransmission and 21(15.8%) nGA. Early signs of atrophy overlying drusen were found simultaneously on SD-OCT and FAF in 52 cases (39.1%, 95% CI 30.8–47.9%), earliest on FAF in 51 (38.3%, 95% CI 30.0–47.2%) and first on SD-OCT in 30 (22.6%, 95% CI 15.8–30.6%; p<0.05). Statistically significant differences were found between both techniques (p=0.005), with FAF detecting it earlier than SD-OCT. When RPE atrophy was found first on FAF, the median time to diagnosis with SD-OCT was 6.6 months (95% CI 5.5 to 8.6), while if detection occurred earlier on SD-OCT, the median time until identification with FAF was 12.6 months (95% CI 6.0 to 23.4; p=0.0003). Conclusions. In iAMD cases in which early atrophy overlying drusen is not detected simultaneously in FAF and SD-OCT, FAF was significantly more sensitive. Nevertheless, a multimodal approach is recommended and required to evaluate these patients.

Anatomical and functional changes in neovascular AMD in remission: comparison of fibrocellular and fibrovascular phenotypes

2019 ◽  
Vol 104 (1) ◽  
pp. 47-52 ◽  
Author(s):  
Lea Querques ◽  
Mariacristina Parravano ◽  
Enrico Borrelli ◽  
Adele Chiaravalloti ◽  
Massimiliano Tedeschi ◽  
...  
Keyword(s):  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Age Related Macular Degeneration ◽  
Study Cohort ◽  
Neovascular Amd ◽  
Macular Function ◽  
Functional Changes ◽  
Age Related ◽  
Rpe Atrophy

PurposeTo investigate the anatomical changes and the macular function in neovascular age-related macular degeneration (AMD) eyes, according to the recognition of either fibrocellular or fibrovascular phenotype.MethodsWe enrolled eyes with previously treated neovascular AMD in remission (no subretinal haemorrhage, sign of fluid in or under the retina and no treatment for at least 6 months). Subjects underwent multimodal imaging assessment and were tested for macular sensitivity using microperimetry. The study cohort was divided according to the presence of fibrosis on multicolour (MC) images, yielding two distinct phenotypic subgroups: (1) fibrocellular group and (2) fibrovascular group.ResultsNineteen eyes were classified as fibrocellular on MC images, while 22 eyes as fibrovascular. Mean±SD age was 73.9±11.0 years in the fibrocellular group and 75.9±7.1 years in the fibrovascular group (p=0.221). Best-corrected visual acuity was 0.7±0.5 logarithm of the minimum angle of resolution (LogMAR) in the fibrocellular group and 0.3±0.2 LogMAR in the fibrovascular group (p=0.003). On the optical coherence tomography and fundus autofluorescence evaluation, 17/19 eyes with the fibrocellular phenotype and 8/22 eyes with the fibrovascular phenotype displayed the presence of retinal pigment epithelium (RPE) atrophy (p=0.001). The perfusion density within the neovascular lesion was 28.9%±9.9% in the fibrocellular group and 44.2%±5.9 % in the fibrovascular group (p<0.0001).ConclusionNeovascular AMD eyes in remission and with evidence of fibrocellular scar are characterised by RPE atrophy and reduced perfusion, which are associated with a higher degree of functional impairment. These findings suggest that maturation of vessels in fibrosis might be a better target in neovascular AMD treatments rather than their abolishment.

Diffuse Pigmented Lesions in the Outer Retina: An Unusual Fundus Appearance

2019 ◽  
Vol 4 (3) ◽  
pp. 243-247
Author(s):  
Matthew D. Benson ◽  
Uriel Rubin ◽  
Marvi Cheema ◽  
Ian M. MacDonald ◽  
Matthew T.S. Tennant ◽  
...  
Keyword(s):  
Phenotypic Diversity ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Retinal Dystrophy ◽  
Full Field ◽  
Panel Testing ◽  
Pigmented Lesions ◽  
Hereditary Retinal Dystrophy ◽  
Ultrasound Findings ◽  
Chest X Ray

Purpose: This report describes and provides a differential diagnosis for a patient with unusual bilateral retinal pigmented lesions. Methods: A 40-year-old woman was found to have multiple flat, gray lesions scattered across her fundi, becoming larger and more confluent toward the periphery. There were small drusenlike deposits in her foveae. The hyperpigmented lesions demonstrated hypoautofluorescence with thickening of the retinal pigment epithelium and disruption of the overlying layers on optical coherence tomography (OCT). Full-field electroretinography revealed generalized reduced a- and b-wave amplitudes. Results: Chest x-ray, breast ultrasound, mammography, and pelvic ultrasound findings were negative for malignant etiologic factors. Panel testing results for hereditary retinal dystrophy were negative. Conclusions: Although the clinical and OCT appearance of the lesions is similar to congenital grouped pigmentation, the symmetric and bilateral nature of ocular findings coupled with electroretinographic changes suggest a possible retinal dystrophy. This case adds to the phenotypic diversity of pigmented fundus lesions.

Multimodal imaging of chorioretinal folds induced by orbital vascular malformation in two cases

2020 ◽  
pp. 112067212095758
Author(s):  
Ahmet Kaan Gündüz ◽  
Carol L Shields ◽  
Şükran Bekdemir ◽  
Jerry A Shields
Keyword(s):  
Functional Status ◽  
Multimodal Imaging ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Late Phase ◽  
Vascular Tumor ◽  
Fundus Photography ◽  
Swept Source ◽  
Chorioretinal Folds

Purpose: To investigate the alterations in the retinal pigment epithelium (RPE) in the crest and trough portions of chorioretinal folds (CRFs) induced by an orbital vascular tumor. Methods: Review of multimodal imaging in two eyes of two patients with globe compression and CRFs from an orbital vascular tumor. Results: Fundus photography demonstrated obliquely extending CRFs with alternating hyperpigmented and hypopigmented linear alterations in both eyes. Fundus autofluorescence (AF) imaging showed obliquely oriented hypoAF lines, incompletely alternating with hyperAF lines. In Case 1, the hyperAF lines had interspersed hypoAF segments and Case 2 had peripapillary mottling of AF. Fluorescein angiography (FA) showed alternating hyper and hypofluorescent lines in the late phase in Case 1. Optical coherence tomography (OCT) documented relative thinning of RPE at the folded crests in Case 1 and preservation of RPE in Case 2. Swept-source OCT angiography (SS-OCTA) demonstrated oblique hyporeflective lines in the outer retina and choriocapillaris layers in Case 2. These findings suggest that the crest of a CRF represents thinned or rarified RPE with hypoAF, transmission hyperfluorescence (FA), partially attenuated RPE layer (OCT), and isoreflectivity (SS-OCTA) while the trough represents compressed RPE with irregular hyperAF, transmission hypofluorescence (FA), thickened RPE layer (OCT), and hyporeflectivity (SS-OCTA). Conclusion: The anatomic and functional status of the RPE in CRFs based on multimodal imaging reveals normal to attenuated RPE with hypofunctionality at the fold crest and compacted, thickened RPE at the trough with segmental functional impairment on AF imaging. Anatomic information regarding CRFs is evident on OCT, FA, and SS-OCTA while the functional status is depicted on AF.

scholarly journals Long-Term Effect of Half-Fluence Photodynamic Therapy on Fundus Autofluorescence in Acute Central Serous Chorioretinopathy

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Martin Stattin ◽  
Stefan Hagen ◽  
Daniel Ahmed ◽  
Eva Smretschnig ◽  
Florian Frommlet ◽  
...  
Keyword(s):  
Photodynamic Therapy ◽  
Central Serous Chorioretinopathy ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Long Term Follow Up ◽  
Acute Central Serous Chorioretinopathy ◽  
Mean Differences

Purpose. To evaluate normalized short-wavelength fundus autofluorescence (SW-FAF) imaging changes over time as a predictive parameter for the retinal pigment epithelium (RPE) function in eyes compromised by acute central serous chorioretinopathy (CSCR) after indocyanine green angiography-guided verteporfin (Visudyne®, Novartis Pharma, Basel, Switzerland) photodynamic therapy (PDT) with a half-fluence rate (25 J/cm2). Methods. Quantitative data of SW-FAF grey values (SW-FAF GV) from a 350 μm (SW-350) and 1200 μm (SW-1200) diameter circle centered on the fovea and normalized with the level of SW-FAF GV in a 30° image of 20 eyes in 11 patients initially treated for unilateral acute symptomatic CSCR were collected and retrospectively analyzed after 7 years. A 2-sided t-test was calculated to explore the differences of SW-350 and SW-1200 between one month and the long-term follow-up. Results. Mean differences (95% CI) in SW-FAF GV between 1 month and 7 years after half-fluence PDT were 0.07 ± 0.11 for SW-350 ([95% CI: −0.002; 0.14], p=0.06) and 0.11 ± 0.15 for SW-1200 ([95% CI: 0.01; 0.21], p=0.03). Mean differences in SW-FAF GV of the contralateral untreated eye were 0.06 ± 0.14 for SW-350 ([95% CI: −0.04; 0.17], p=0.22) and 0.05 ± 0.13 for SW-1200 ([95% CI: −0.04; 0.15], p=0.22). Conclusion. After 7 years, normalized SW-FAF GV were significantly lower in eyes with resolved acute CSCR treated with reduced-fluence PDT compared to the follow-up after 1 month without correlation to explicit pattern changes or structural damages. Half-fluence PDT remains a safe and considerable treatment option in acute CSCR.

A PRPH2 gene variant detected in retinitis punctata albescens with congenital hypertrophy of the retinal pigment epithelium

2020 ◽  
pp. 112067212096202
Author(s):  
Aowang Qiu ◽  
Yan Yu ◽  
Junlong Huang ◽  
Qinghuai Liu ◽  
Yannis M Paulus ◽  
...  
Keyword(s):  
Retinal Pigment Epithelium ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Cone Photoreceptor ◽  
Blurred Vision ◽  
Full Field ◽  
Photoreceptor Outer Segments ◽  
Pigmented Lesions ◽  
Retinitis Punctata Albescens ◽  
Congenital Hypertrophy

Retinitis punctata albescens (RPA) is generally diagnosed by the presence of numerous clusters of white punctate lesions in the retina that progress over time and are related to several gene variants. The multifocal variant of congenital hypertrophy of the retinal pigment epithelium (CHRPE) is characterized by multiple, grouped, sharply circumscribed, pigmented spots. The PRPH2 gene encodes a photoreceptor-specific glycoprotein, which is essential for the morphogenesis of rod and cone photoreceptor outer segments. A 39-year-old Chinese female with nyctalopia, complained about blurred vision, presented a unique co-existing feature of RPA and CHRPE. Dilated fundus exam demonstrated numerous porcelain white discrete dots in both eyes and multiple, small, flat clusters of round brown to black pigmented lesions in the left eye. The full field electroretinography (ERG) showed decreased responses after standard dark adaptation and normal b-wave amplitudes after a long (4-h) dark-adapted period. A heterozygous PRPH2 splicing variant was detected in the proband. In addition, the same variant was found in her mother, her son, and her daughter. We describe a PRPH2 variant in a rare case of RPA associated with multifocal CHRPE of the same individual.

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