fundus flavimaculatus

Purpose: This study was conducted to analyze the clinical features associated with the pathogenic variants of ABCA4 in Korean patients with inherited retinal dystrophies (IRDs). Methods: We enrolled patients with IRDs who visited a tertiary referral hospital and identified the pathogenic variants of ABCA4 through targeted gene panel sequencing and whole exome sequencing. We analyzed the clinical characteristics and phenotypic spectrum according to genotype. Results: Eleven patients (from nine families) with IRDs and pathogenic variants in ABCA4 were included...

Retinal oxidative damage, associated with an ATP-binding cassette, sub-family A, member 4, also known as ABCA4 gene mutation, has been implicated as a major underlying mechanism for Stargardt disease/fundus flavimaculatus (STG/FF). Recent findings indicate that saffron carotenoid constituents crocins and crocetin may counteract retinal oxidative damage, inflammation and protect retinal cells from apoptosis. This pilot study aimed to evaluate central retinal function following saffron supplementation in STG/FF patients carrying ABCA4 mutations...

Background/Objectives : To reveal the underlying genetic defect in a complex family affected with different clinical features of inherited retinal dystrophy, we carried out whole exome sequencing followed by confirmatory molecular tests. Materials and Methods : Complete ophthalmic examinations were performed for available affected family members. Whole exome sequencing, bioinformatics analysis, Sanger sequencing confirmation, and segregation analysis were done to identify the causative mutation. Results : Clinical findings suggested fundus flavimaculatus as an early clinical feature progressing to an extensive chorioretinal atrophy involving the macula and mid-periphery of the fundus in one parent and central areolar chorioretinal dystrophy (CACD) as the most probable clinical diagnosis in another parent...

The human retina-specific ATP binding cassette transporter, ABCA4, plays a significant role in the visual cycle. Mutations in the ABCA4 gene result in a broad spectrum of severe, blinding, retinal degenerative diseases, including Stargardt macular dystrophy, fundus flavimaculatus, autosomal recessive (ar)-retinitis pigmentosa, and ar-cone-rod dystrophy. Genetic testing frequently yields novel variants of unknown significance, making accurate prognosis and therapeutic approaches difficult. Recently, we have reported a novel variant of ABCA4 corresponding to a four-nucleotide deletion which led to a premature stop codon and loss of the last 161 amino acids, including the highly-conserved VFVNFA motif...

Pattern dystrophies are a group of inherited disorders of the retinal pigment epithelium. A 44-year-old female came with loss of vision in her right eye. The fundus of both eyes showed flecks in the posterior pole with a CNVM in the right eye. FFA and SD OCT confirmed the presence of CNVM. The patient underwent treatment with anti-VEGF injection. Post treatment, the vision improved with a reduction in subretinal fluid along with a scarring CNVM. To conclude, we report an extremely rare case of PDSFF associated CNVM and its favourable response to anti-VEGF injection...

Stargardt disease (STGD) is one of the most common macular dystrophies in young adults. It progresses slowly. Its prevalence is about 1:8000-10,000. Age of onset is a surrogate marker: The earlier the onset, the more severe the disease course. Onset usually occurs in childhood or early adolescence, at about 10-15 years of age. Vision is between about 20/70 and 20/200. The fundus shows a bull's eye pattern or beaten-bronze appearance, with or without yellowish flecks (fundus flavimaculatus). Fluorescein angiography may show dark choroid in about 80% of cases...

To assess the progression of Stargardt (STGD) disease over nine years in two branches of a large consanguineous Tunisian family. Initially, different phenotypes were observed with clinical intra- and interfamilial variations. At presentation, four different retinal phenotypes were observed. In phenotype 1, bull's eye maculopathy and slight alteration of photopic responses in full-field electroretinography were observed in the youngest child. In phenotype 2, macular atrophy and yellow white were observed in two brothers...

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PURPOSE: To evaluate the clinical and multimodal imaging findings of various pattern dystrophy (PD) subtypes and report the initial misdiagnosis rate of PD patients resulting in unnecessary treatment in actual clinical practice. METHODS: Retrospective, observational study. Forty eyes of 24 patients with PD were included. The distribution of PD subtypes, optical coherence tomography (OCT) and fundus autofluorescence (FAF) findings, initial misdiagnoses, revised diagnoses, duration between misdiagnosis and revised diagnosis, and unnecessary treatments administered were evaluated over this time-period...

PURPOSE: Mutations in the ABCA4 gene result in a broad spectrum of severe retinal degeneration, including Stargardt macular dystrophy, fundus flavimaculatus, autosomal recessive retinitis pigmentosa, and cone-rod dystrophy. In addition to the detection of well-characterized mutations, genetic testing frequently yields novel variants of unknown significance. The purpose of this report is to describe an approach to aid in the assessment of genetic variants of unknown significance. CASE REPORT: We report an 11-year-old girl with Stargardt disease harboring novel compound heterozygous deletions of ABCA4 (c...

PURPOSE: To characterize autofluorescence (AF) patterns occurring in Stargardt macular dystrophy (STGD1) using ultra-wide-field (UWF) imaging. METHODS: This paper is a cross-sectional observational study of 22 eyes of 11 patients (mean age 23.44 years) with Stargardt disease-fundus flavimaculatus who presented with decrease of vision at a tertiary eye care center. UWF short-wave AF images were obtained from all the patients using an Optos TX200 instrument. The main outcome measures were to assess patterns of AF changes seen on UWF AF imaging...

PURPOSE: To report a case of choroidal neovascularization (CNV) in a patient with cone dystrophy (CD). METHODS: Case report. RESULTS: A 20-year-old woman presented with diminished vision in her right eye. Fundus examination showed perifoveal retinal pigment epithelial changes and retinal hemorrhage consistent with subretinal CNV in the right eye, and mild retinal pigment epithelial changes with a dull foveal reflex in the left eye. Optical coherence tomography analysis and fundus fluorescein angiography also confirmed the subfoveal CNV in the right eye...

No abstract text is available yet for this article.

Peripherin 2 (Prph2) is a photoreceptor tetraspanin, and deletion of codon 153 (K153Δ) leads to retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in the same family. To study this variability, we generated a K153Δ-Prph2 knockin mouse. K153Δ-Prph2 cannot form the complexes required for outer segment formation, and in cones cannot interact with its binding partner rod outer segment membrane protein 1. K153Δ causes dominant defects in rod and cone function; however, rod but not cone ultrastructure is improved by the presence of K153Δ-Prph2...

Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. Kjellin's syndrome is a rare syndrome associated with HSP. The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. We report the case of a 34-year-old male who presented with complete features of Kjellin's syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging)...

We report the good outcome of combined intravitreal aflibercept injection and photodynamic treatment in a case with fundus flavimaculatus (FFM) and unilateral subretinal neovascular membrane (SRNM). A 57-year-old man with FFM and unilateral SRNM who was treated with two consecutive ranibizumab injections with no improvement at another institution was referred to us. He was treated successfully with three aflibercept injections three months apart and a single photodynamic treatment performed a week after the initial aflibercept injection...

PURPOSE: To report a case of subretinal deposits, paramacular atrophy, and pigmentary retinopathy associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. METHODS: Retrospective review of medical records. RESULTS: A 45-year-old white woman presented with progressive deterioration of vision and dark adaptation over several years. She had a background of an undiagnosed neurodegenerative disorder, including sensorineural hearing loss, cognitive disturbance, and peripheral neuropathy...

PURPOSE: To report the features of a case with late-onset fundus flavimaculatus (FFM) complicated by choroidal neovascularization (CNV) and treated with ranibizumab. METHODS: Retrospective interventional case report. PATIENT: A 51-year-old woman presented with right eye decreased vision. Fundus flavimaculatus with CNV was diagnosed by electroretinography and fluorescein angiography. RESULTS: Two intravitreal injections of ranibizumab were needed for the treatment...

PURPOSE: To determine whether the characteristics of multifocal electroretinograms (mfERGs) were correlated with the ophthalmic appearance of the fundus in patients with Stargardt's disease/fundus flavimaculatus (SFF). METHODS: Full-field ERGs, mfERGs, and general ophthalmic examinations were performed on 49 eyes with SFF. RESULTS: The SFF patients were divided into four subtypes according to the classification of Noble and Carr [Arch Ophthalmol 1979;97:1281-1285]...

The article presents a review of literature on Stargardt's disease and abiotrophy of Franceschetti. Etiopathogenetic, clinical and molecular genetic characteristics are covered. Clinical and genetic classifications of the diseases are provided.