Stargardt and Fundus Flavimaculatus; Pathophysiology, Clinical Findings, Imaging Characteristics, and Diagnosis

2021 ◽  
pp. 185-189
Keyword(s):  
Visual Acuity ◽  
Fundus Autofluorescence ◽  
Age At Onset ◽  
Pattern Electroretinogram ◽  
Clinical Findings ◽  
Macular Dystrophy ◽  
Macular Lesion ◽  
Imaging Characteristics ◽  
Wide Variability ◽  
Severity Of The Disease

Stargardt disease (STGD) is the most common form of recessively inherited macular dystrophy. It is characterized by the presence of an atrophic macular lesion, which is surrounded by irregular, white-yellow, deep retinal lesions (flecks). There is wide variability in age at onset, visual acuity, fundus appearance, and severity of the disease. Fundus examination can be normal but visual acuity can be reduced early in the course of the disease. In these patients, pattern electroretinogram (PERG) and fundus autofluorescence (FAF) will be helped in establishing the diagnosis of STGD. The typical sign of “choroidal silence” or dark choroid on fluorescein angiography (FA) is not present in all patients with STGD and is not specific to this condition.

Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy

2019 ◽  
Vol 104 (2) ◽  
pp. 173-181 ◽  
Author(s):  
Marina Riera ◽  
Víctor Abad-Morales ◽  
Rafael Navarro ◽  
Sheila Ruiz-Nogales ◽  
Pilar Méndez-Vendrell ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Retinal Dystrophy ◽  
Macular Dystrophy ◽  
Nucleotide Polymorphisms ◽  
Autofluorescence Imaging ◽  
New Genotype

PurposeThis study aimed to identify the underlying genetic cause(s) of inherited retinal dystrophy (IRD) in 12 families of Kuwaiti origin affected by macular dystrophy and four Spanish patients affected by retinitis pigmentosa (RP).MethodsClinical diagnoses were based on standard ophthalmic evaluations (best-corrected visual acuity, retinography, fundus autofluorescence imaging, optical coherence tomography, electroretinography and visual field tests). Panel-based whole exome sequencing was used to simultaneously analyse 224 IRD genes in one affected member of each family. The putative causative variants were confirmed by Sanger sequencing and cosegregation analyses. Haplotype analysis was performed using single nucleotide polymorphisms.ResultsA homozygous missense mutation c.606C>A (p.Asp202Glu) in RP1 was found to be the molecular cause of IRD in all 12 families from Kuwait. These patients exhibited comparable symptoms, including progressive decline in visual acuity since adolescence. Fundus autofluorescence images revealed bilateral macular retinal pigment epithelium disturbances, with neither perimacular flecks nor peripheral alterations. A shared haplotype spanning at least 1.1 Mb was identified in all families, suggesting a founder effect. Furthermore, RP1 variants involving nonsense and/or frameshifting mutations (three of them novel) were identified in three Spanish autosomal-recessive RP families and one dominant RP pedigree.ConclusionThis study describes, for the first time, a macular dystrophy phenotype caused by an RP1 mutation; establishing a new genotype-phenotype correlation in this gene, expanding its mutation spectrum and further highlighting the clinical heterogeneity associated with IRD.

scholarly journals Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

2021 ◽  
Vol 22 (19) ◽  
pp. 10352
Author(s):  
Ana Fakin ◽  
Crystel Bonnet ◽  
Anne Kurtenbach ◽  
Saddek Mohand-Said ◽  
Ditta Zobor ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Structural Characteristics ◽  
Fundus Autofluorescence ◽  
Usher Syndrome ◽  
Age At Onset ◽  
Loss Of Function ◽  
Exact Test ◽  
A Minor ◽  
Usher Syndrome Type

In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotype is less known. The purpose of the study was to characterize the retinal phenotype of 18 ADGRV1 patients (9 male, 9 female; median age 52 years) and compare it with that of 204 USH2A patients (111 male, 93 female; median age 43 years) in terms of nyctalopia onset, best corrected visual acuity (BCVA), fundus autofluorescence (FAF), and optical coherence tomography (OCT) features. There was no statistical difference in the median age at onset (30 and 18 years; Mann–Whitney U test, p = 0.13); the mean age when 50% of the patients reached legal blindness (≥1.0 log MAR) based on visual acuity (64 years for both groups; log-rank, p = 0.3); the risk of developing advanced retinal degeneration (patch or atrophy) with age (multiple logistic regression, p = 0.8); or the frequency of cystoid macular edema (31% vs. 26%, Fisher’s exact test, p = 0.4). ADGRV1 and USH2A retinopathy were indistinguishable in all major functional and structural characteristics, suggesting that the loss of function of the corresponding proteins produces similar effects in the retina. The results are important for counseling ADGRV1 patients, who represent the minor patient subgroup.

scholarly journals Multimodal Imaging of Acquired Vitelliform Lesion Diagnosed at Pseudohypopyon Stage

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Nuno Moreira Gonçalves ◽  
Ângela M. Carneiro ◽  
Elisete Brandão ◽  
Fernando M. Falcão-Reis
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Fluorescein Angiography ◽  
Fundus Autofluorescence ◽  
Spectral Domain ◽  
Optical Coherence ◽  
Macular Lesion ◽  
Multiple Round ◽  
One Year ◽  
Sd Oct

Purpose. To present a case study of a monocular acquired vitelliform lesion, studied with multimodal fundus imaging (spectral-domain-optical coherence tomography, fundus autofluorescence, and fluorescein angiography) with a followup of three years.Case Report. An asymptomatic macular lesion was detected on a 64-year-old man. Fundus exam revealed a macular lesion with an apparent horizontal level associated with multiple round small whitish lesions, suggestive of cuticular drusen. He was studied with autofluorescence of the fundus (FAF), fluorescein angiography (FA), spectral domain-optical coherence tomography (SD-OCT), and electrooculogram. The findings were compatible with the diagnosis of acquired vitelliform lesion, associated with cuticular drusen. After one year, the visual acuity decreased to 20/50, without identifiable alterations of the FAF, FA, or SD-OCT. Three years later, fundoscopy and imaging showed an evolution to a state similar to vitelli disruptive phase of Best disease with an improvement of visual acuity to 20/25. We report the results of FAF, FA, and SD-OCT at this stage.Conclusion. Acquired vitelliform lesions associated with cuticular drusen can present as a pseudohypopyon lesion, and the evolution to the atrophic phase can be associated with an improvement of visual acuity.

scholarly journals Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1497
Author(s):  
Susan M. Downes ◽  
Tham Nguyen ◽  
Vicky Tai ◽  
Suzanne Broadgate ◽  
Mital Shah ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Fundus Autofluorescence ◽  
Age At Onset ◽  
Visual Fields ◽  
Case Series ◽  
Clinical Findings ◽  
Fundus Photography ◽  
Presenting Symptoms ◽  
Ceramide Kinase ◽  
Pathogenic Variants

Autosomal recessive retinitis pigmentosa is caused by mutations in over 40 genes, one of which is the ceramide kinase-like gene (CERKL). We present a case series of six patients from six unrelated families diagnosed with inherited retinal dystrophies (IRD) and with two variants in CERKL recruited from a multi-ethnic British population. A retrospective review of clinical data in these patients was performed and included colour fundus photography, fundus autofluorescence (AF) imaging, spectral domain–optical coherence tomography (SD–OCT), visual fields and electroretinogram (ERG) assessment where available. Three female and three male patients were included. Age at onset ranged from 7 years old to 45 years, with three presenting in their 20s and two presenting in their 40s. All but one had central visual loss as one of their main presenting symptoms. Four patients had features of retinitis pigmentosa with significant variation in severity and extent of disease, and two patients had no pigment deposition with only macular involvement clinically. Seven variants in CERKL were identified, of which three are novel. The inherited retinopathies associated with the CERKL gene vary in age at presentation and in degree of severity, but generally are characterised by a central visual impairment early on.

scholarly journals Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

2021 ◽  
Vol 22 (5) ◽  
pp. 2374
Author(s):  
Laura Kuehlewein ◽  
Ditta Zobor ◽  
Katarina Stingl ◽  
Melanie Kempf ◽  
Fadi Nasser ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Genetic Testing ◽  
Retinitis Pigmentosa ◽  
Fundus Autofluorescence ◽  
Retinal Disease ◽  
New Drugs ◽  
Autofluorescence Imaging ◽  
Full Field ◽  
Tertiary Referral Center ◽  
The Right

In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic testing at a single tertiary referral center, including best-corrected visual acuity (BCVA), kinetic visual field (VF), full-field electroretinography, full-field stimulus threshold, spectral domain optical coherence tomography, and fundus autofluorescence imaging. The genetic testing comprised candidate gene sequencing, inherited retinal disease gene panel sequencing, whole-genome sequencing, and testing for familial variants by Sanger sequencing. Twenty-four patients with mutations in PDE6B from 21 families were included in the study (mean age at the first visit: 32.1 ± 13.5 years). The majority of variants were putative splicing defects (8/23) and missense (7/23) mutations. Seventy-nine percent (38/48) of eyes had no visual acuity impairment at the first visit. Visual acuity impairment was mild in 4% (2/48), moderate in 13% (6/48), and severe in 4% (2/48). BCVA was symmetrical in the right and left eyes. The kinetic VF measurements were highly symmetrical in the right and left eyes, as was the horizontal ellipsoid zone (EZ) width. Regarding the genetic findings, 43% of the PDE6B variants found in our patients were novel. Thus, this study contributed substantially to the PDE6B mutation spectrum. The visual acuity impairment was mild in 83% of eyes, providing a window of opportunity for investigational new drugs. The EZ width was reduced in all patients and was highly symmetric between the eyes, making it a promising outcome measure. We expect these findings to have implications on the design of future PDE6B-related retinitis pigmentosa (RP) clinical trials.

scholarly journals Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN

2021 ◽  
Vol 10 (11) ◽  
pp. 2265
Author(s):  
Kei Mizobuchi ◽  
Takaaki Hayashi ◽  
Noriko Oishi ◽  
Daiki Kubota ◽  
Shuhei Kameya ◽  
...  
Keyword(s):  
Age At Onset ◽  
Japanese Patients ◽  
Clinical Findings ◽  
Cone Dystrophy ◽  
Element Insertion ◽  
Retinal Dystrophies ◽  
Whole Exome ◽  
Novel Variants ◽  
Alu Element ◽  
Frequent Variant

Background: Little is known about genotype–phenotype correlations of RP1-associated retinal dystrophies in the Japanese population. We aimed to investigate the genetic spectrum of RP1 variants and provide a detailed description of the clinical findings in Japanese patients. Methods: In total, 607 patients with inherited retinal diseases were examined using whole-exome/whole-genome sequencing (WES/WGS). PCR-based screening for an Alu element insertion (c.4052_4053ins328/p.Tyr1352AlafsTer9) was performed in 18 patients with autosomal-recessive (AR)-retinitis pigmentosa (RP) or AR-cone dystrophy (COD)/cone-rod dystrophy (CORD), including seven patients with heterozygous RP1 variants identified by WES/WGS analysis, and 11 early onset AR-RP patients, in whom no pathogenic variant was identified. We clinically examined 25 patients (23 families) with pathogenic RP1 variants, including five patients (five families) with autosomal-dominant (AD)-RP, 13 patients (11 families) with AR-RP, and seven patients (seven families) with AR-COD/CORD. Results: We identified 18 pathogenic RP1 variants, including seven novel variants. Interestingly, the Alu element insertion was the most frequent variant (32.0%, 16/50 alleles). The clinical findings revealed that the age at onset and disease progression occurred significantly earlier and faster in AR-RP patients compared to AD-RP or AR-COD/CORD patients. Conclusions: Our results suggest a genotype–phenotype correlation between variant types/locations and phenotypes (AD-RP, AR-RP, and AR-COD/CORD), and the Alu element insertion was the most major variant in Japanese patients with RP1-associated retinal dystrophies.

scholarly journals Genotypes Predispose Phenotypes—Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1421
Author(s):  
Yu-Chi Sung ◽  
Chang-Hao Yang ◽  
Chung-May Yang ◽  
Chao-Wen Lin ◽  
Ding-Siang Huang ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinal Degeneration ◽  
Medical Center ◽  
Fundus Autofluorescence ◽  
Genetic Diagnosis ◽  
Common Disease ◽  
Genetic Characteristics ◽  
Retinal Dystrophies ◽  
High Prevalence ◽  
Abca4 Gene

The ABCA4 gene is one of the most common disease-causing genes of inherited retinal degeneration. In this study, we report different phenotypes of ABCA4-associated retinal dystrophies in the Taiwanese population, its clinical progression, and its relationship with genetic characteristics. Thirty-seven subjects were recruited and all patients underwent serial ophthalmic examinations at a single medical center. Fundus autofluorescence (FAF) images were quantified for clinical evaluation, and panel-based next-generation sequencing testing was performed for genetic diagnosis. Visual preservation, disease progression, and genotype–phenotype correlation were analyzed. In this cohort, ABCA4-associated retinal degeneration presented as Stargardt disease 1 (STGD1, 62.16%), retinitis pigmentosa (32.43%), and cone-rod dystrophy (5.41%). STGD1 could be further divided into central and dispersed types. In each phenotype, the lesion areas quantified by FAF increased with age (p < 0.01) and correlated with poorer visual acuity. However, three patients had the foveal sparing phenotype and had relatively preserved visual acuity. Forty-two ABCA4 variants were identified as disease-causing, with c.1804C>T (p.Arg602Trp) the most frequent (37.84%). Patients with a combination of severe/null variants could have more extensive phenotypes, such as arRP and dispersed STGD1. This is the first cohort study of ABCA4-associated retinal degeneration in Taiwan with wide spectrums of both genotypic and phenotypic characteristics. An extremely high prevalence of c.1804C>T, which has not been reported in East Asia before, was noted. The extensiveness of retinal involvement might be regarded as a spectrum of ABCA4-associated retinal dystrophies. Different types of genetic variations could lead to distinctive phenotypes, according to the coding impact of variants.

scholarly journals Multimodal imaging of torpedo maculopathy in a Chinese woman: a case report

2019 ◽  
Author(s):  
Yuhua Ding ◽  
Bangtao Yao ◽  
Hui Ye ◽  
Yan Yu
Keyword(s):  
Visual Field ◽  
Multimodal Imaging ◽  
Fundus Autofluorescence ◽  
Chinese Woman ◽  
Fluorescence Angiography ◽  
Macular Area ◽  
Macular Lesion ◽  
Deep Layers ◽  
Funduscopic Examination ◽  
Torpedo Maculopathy

Abstract Background: Torpedo maculopathy is a rare, benign, and congenital macular lesion that typically appears in ‘torpedo-shape’ and is located at the temporal macula region. This article aimed to describe in detail regarding the torpedo maculopathy in a Chinese woman using multimodal imaging. Case presentation: A 30-year-old Chinese woman with occasional yellowish-white macular lesions in her right eye during a routine examination was presented to our hospital. She had no symptoms, and the best-corrected visual acuity of both eyes was 6/6. Funduscopic examination revealed a torpedo-shaped and mild hypopigmentation lesion in the temporal macular area of her right eye. Infrared fundal (IR) photograph showed that the lesion contour was visible, transverse elliptical, with a tip pointing towards the central fovea of the macula. Microperimetry visual field appeared normal. The spectral-domain optical coherence tomography (SD-OCT) showed a normal inner retina, with mild thinner outer retina and RPE in the temporal macular area, and correspondingly increased choroidal reflectivity. Other OCT findings included outer retinal loss/attenuation with significant atrophy of an intact ellipsoid zone. OCT angiography (OCTA) of choroid capillary layer revealed increased density of choroidal vasculature, corresponding to the area of the lesion, while the superficial and deep layers revealed normal vasculature. Fundus autofluorescence (FAF) revealed normal signal with slight hyperautofluorescence at the nasal lesion margin. Fundus fluorescence angiography (FFA) of the lesion showed variegated fluorescence and no leakage and change in the morphology during the whole imaging process. Conclusions: This is the first report that put forwarded a thorough and detailed description of torpedo maculopathy simultaneously by using fundal photograph, IR, microperimetry visual field, OCT, OCTA, FAF, and FFA. Multimodal imaging provides precious and detailed information to further clarify the characteristics and development of this rare disease.

scholarly journals Genetic testing for choroideremia

2017 ◽  
Vol 1 (s1) ◽  
pp. 26-28
Author(s):  
Andi Abeshi ◽  
Alessandra Zulian ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Francesco Viola ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Optical Coherence Tomography ◽  
Differential Diagnosis ◽  
Clinical Utility ◽  
Scientific Literature ◽  
Genetic Test ◽  
Fundus Autofluorescence ◽  
Clinical Findings ◽  
Ophthalmological Examination

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder associated with variations in the CHM gene. The overall prevalence of CHM varies from 1 in 50 000 to 1 in 100 000. Clinical diagnosis is based on clinical findings, ophthalmological examination, visual field, fundus autofluorescence, optical coherence tomography and electroretinography. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Factors influencing intravenous methylprednisolone pulse therapy in Chinese patients with isolated optic neuritis associated with AQP4 antibody-seropositive neuromyelitis optica

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sitong Guo ◽  
Hanqiu Jiang ◽  
Libin Jiang ◽  
Jingting Peng ◽  
Hongjuan Liu ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Optic Neuritis ◽  
Neuromyelitis Optica ◽  
Age At Onset ◽  
Chinese Patients ◽  
Intravenous Methylprednisolone ◽  
Methylprednisolone Pulse ◽  
Factors Influencing ◽  
Intravenous Methylprednisolone Pulse ◽  
Aqp4 Antibody

AbstractThis study investigated the factors influencing intravenous methylprednisolone pulse (IVMP) therapy for recovering visual acuity in Chinese patients with aquaporin-4 (AQP4) antibody-seropositive neuromyelitis optica-related optic neuritis (NMO-ON). This retrospective case series included 243 affected eyes of 182 patients (36 male, 146 female) diagnosed with NMO-ON in the Neuro-Ophthalmology Clinic of Beijing Tongren Hospital from September 2012 to September 2020. All patients with AQP4-antibody seropositivity had clinical manifestations of acute ON, excluding other diagnoses and received IVMP treatment at 500 mg/day or 1000 mg/day for 3 days. Primary outcome was the extent of improvement in logMAR visual acuity after IVMP treatment. The therapeutic influences of sex, age, baseline visual acuity, therapeutic intervals, and IVMP dose on acute NMO-ON were analysed. Chi-square tests, Mann–Whitney U-tests, Kruskal–Wallis tests, Spearman’s correlation coefficients, and multiple linear regression were used for statistical analysis. Age ranged between 7 and 80 years (median age, 44; interquartile range [IQR], 29–52) years. Among the 243 eyes, the median improvement in logMAR visual acuity was 0.3 (IQR, 0–0.9). Therapeutic efficacy of IVMP was significantly higher in female than in male patients (Z = 2.117, P = 0.034). The treatment effect gradually decreased with increase in age at onset (Rs = 0.157, P = 0.015), and visual improvement was significantly lower in patients aged > 50 years than in those ≤ 50 years (Z = 2.571, P = 0.010). When patients had low visual acuity at onset, improvements were more obvious (rho =  − 0.317, P < 0.001); however, final visual acuity was still low (rho = 0.688, P < 0.001). Therapeutic effect was negatively correlated with therapeutic intervals (rho = 0.228, P = 0.001). Dosage of methylprednisolone (1000 mg/day or 500 mg/day) did not significantly influence treatment efficacy (Z = 0.951 P = 0.342). Therefore, IVMP therapy can improve visual acuity in the affected eyes of patients with AQP4 antibody-seropositive NMO-ON with similar effect at 500 mg/day and 1000 mg/day doses. Sex, age at onset, and therapeutic intervals may influence the efficacy of IVMP in patients with NMO-ON.

Sign in / Sign up

Export Citation Format

Share Document