Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up
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PROVIDER: S-EPMC10672672 | biostudies-literature | 2023 Nov
REPOSITORIES: biostudies-literature
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Project description:Fundus albipunctatus (FA) is a rare, congenital form of night blindness with rod system impairment, characterised by the presence of numerous small, white-yellow retinal lesions. FA belongs to a heterogenous group of so-called flecked retina syndromes. This disorder shows autosomal recessive inheritance and is caused mostly by mutations in the RDH5 gene. This gene encodes the enzyme that is a part of the visual cycle, the 11-cis retinol dehydrogenase. This study is a brief review of the literature on FA and a report of the first molecular evidence for RDH5 gene mutation in a Polish patient with this rare disorder. We present a novel pathogenic RDH5 gene mutation in a 16-year-old female patient with symptoms of night blindness. The patient underwent ophthalmological examinations, including colour vision testing, fundus photography, automated visual field testing, full-field electroretinography (ERG) and spectral optical coherent tomography (SOCT). The patient showed typical FA ERG records, the visual field was constricted and fundus examination revealed numerous characteristic, small, white-yellowish retinal lesions. DNA sequencing of the RDH5 gene coding sequence (exons 2-5) enabled the detection of the homozygous missense substitution c.524A > T (p.Tyr175Phe) in exon 3. This is the first report of RDH5 gene mutation that affects the invariant tyrosine, one of the most conserved amino acid residues in short-chain alcohol dehydrogenases/reductases (SDRs), crucial for these enzymes' activity. The location of this substitution, together with its predicted influence on the protein function, indicate that the p.Tyr175Phe mutation is the cause of FA in our patient.
| S-EPMC4543405 | biostudies-literature
Project description:Pleomorphic adenomas occur primarily in the salivary glands, while the primary of the trachea is relatively rare. Depending on their location and size, they may elicit symptoms reminiscent of asthma and asphyxia. We performed a rigid bronchoscopic resection with a radiofrequency snare of a primary pleomorphic adenoma of the trachea with severe airway narrowing. In this case, the positive resection margins raised concerns about malignant transformation and local recurrence, but no recurrence has been observed seven years postoperatively. The low expression of Ki-67 on immunohistological examination may be one of the reasons for the absence of recurrence.
| S-EPMC11255949 | biostudies-literature
Project description:Hypoglossia-hypodactylia syndrome is an extremely rare congenital anomaly characterized by a hypoplastic mandible, absence of the lower incisors, hypoglossia, and a variable degree of absence of the digits and limbs, with a risk of dysarthria and dysphagia. We report the articulation function and the swallowing function of a patient with hypoglossia-hypodactylia syndrome who was followed up to eight years old. Our patient did not have feeding and swallowing disturbances. She did not have articulatory disturbance, including /t/ and /r/, of the sound articulated using a proglossis. In the future, it is necessary to have a plastic operation for abnormal adhesion of the lower lip and mandibular gingiva and depression on the lower lip, and distraction osteogenesis for micrognathia. Also, it will be necessary to continuously monitor for an articulatory disturbance until the child uses more words. Therefore, a long-term intervention with a multidisciplinary approach is necessary.
| S-EPMC10393527 | biostudies-literature
Project description:BackgroundSengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to a more benign form allowing survival into adulthood, to an isolated form of congenital cataract. Thus far few reported cases have survived the second decade at their latest examination, and no natural history data are available for the disease.Case presentationHere we provide a 20-year follow-up in two siblings with a benign form of Sengers syndrome, expanding the phenotypical spectrum of the disease by reporting a condition of ovarian agenesis.ConclusionTo our knowledge, this report provides the first longitudinal data of Sengers syndrome patients.
| S-EPMC9575244 | biostudies-literature
Project description:BackgroundMutations in the KMT2C gene can cause Kleefstra syndrome-2 (KLEFS2).CaseIn this study, we analyzed the clinical, genetic testing, and 10-year follow-up data of a child with KLEFS2 treated at the Child Healthcare Department, Children's Hospital of Nanjing Medical University, Nanjing. The case of KLEFS2 presented feeding difficulty and developmental delay, both intervened by nutritional support and family rehabilitation. Obvious attention deficit hyperactivity disorder (ADHD) occurred in preschool and school-age children and was managed by behavioral and pharmaceutical interventions.ConclusionFeatures of KLEFS2 include feeding difficulty and developmental delays in an early age, as well as ADHD in preschool and school age. Satisfactory outcomes are not achieved in early nutritional support for correcting malnutrition and pharmaceutical intervention for relieving ADHD, but both measures can counter developmental delay.
| S-EPMC9172761 | biostudies-literature
Project description:PurposeTo investigate the natural history in patients with LRAT-associated retinal degenerations (RDs), in the advent of clinical trials testing treatment options.MethodsA retrospective cohort of 13 patients with LRAT-RDs.ResultsTwelve patients from a genetic isolate carried a homozygous c.12del mutation. One unrelated patient carried a homozygous c.326G>T mutation. The mean follow-up time was 25.3 years (SD 15.2; range 4.8-53.5). The first symptom was nyctalopia (n = 11), central vision loss (n = 1), or light-gazing (n = 1), and was noticed in the first decade of life. Seven patients (54%) reached low vision (visual acuity < 20/67), four of whom reaching blindness (visual acuity < 20/400), respectively, at mean ages of 49.9 (SE 5.4) and 59.9 (SE 3.1) years. The fundus appearance was variable. Retinal white dots were seen in six patients (46%). Full-field electroretinograms (n = 11) were nondetectable (n = 2; ages 31-60), reduced in a nonspecified pattern (n = 2; ages 11-54), or showed rod-cone (n = 6; ages 38-48) or cone-rod (n = 1; age 29) dysfunction. Optical coherence tomography (n = 4) showed retinal thinning but relative preservation of the (para-)foveal outer retinal layers in the second (n = 1) and sixth decade of life (n = 2), and profound chorioretinal degeneration from the eighth decade of life (n = 1).ConclusionsLRAT-associated phenotypes in this cohort were variable and unusual, but generally milder than those seen in RPE65-associated disease, and may be particularly amenable to treatment. The window of therapeutic opportunity can be extended in patients with a mild phenotype.Translational relevanceKnowledge of the natural history of LRAT-RDs is essential in determining the window of opportunity in ongoing and future clinical trials for novel therapeutic options.
| S-EPMC6703192 | biostudies-literature
Project description:Objective To present a previously unreported patient with recurrent spinal metastasis from subcutaneous sacrococcygeal ependymoma who was followed for 16 years. Methods A 50-year-old man who had T9 metastasis from subcutaneous sacrococcygeal ependymoma underwent piecemeal total T9 excision at a local hospital. He was referred to our institute because of weakness in both legs and bowel-bladder dysfunction with the presence of recurrent spinal metastasis at levels T9-T11. Additional tumor excision was performed circumferentially around the dura, along with spinal reconstruction via a posterior-anterior-posterior approach. Subsequently, the patient could walk again. Thereafter, this patient was treated by repeated surgical resection, reinstrumentation, and bone grafting for thoracic spinal metastases, and an additional 14 thoracic nerve root transections (bilateral T6-T12) as a result of eight operations. Results These repeated operations have prevented paralysis and allowed the patient to maintain activities of daily living for 16 years. Conclusions We illustrated the feasibility of repeated surgical resection of thoracic spinal metastases, involving eight operations over 16 years. We believe that this case emphasizes the need to repeatedly resect this type of tumor before the onset of paralysis to maintain normal activity levels.
| S-EPMC5530622 | biostudies-other
Project description:BackgroundEales' disease is a difficult to treat idiopathic form of retinal vasculitis. We present such a case with peculiar epidemiology in which the only efficient therapeutic approach in order to maintain functional vision was repeated intravitreal dexamethasone implants (Ozurdex®). To the best of our knowledge this is the first report of this kind in the literature.Case presentationThis is the case of a 40-year-old white woman presenting in 2008 with recurrent floaters accompanied by blurring of vision in her right eye and severe visual loss in her left eye caused by retinal detachment; her age at presentation was 30 years. A diagnosis of Eales' disease was made by exclusion. She was stable until 2011 after childbirth (cesarean section). Despite aggressive systemic treatment with steroids, azathioprine, and mycophenolate mofetil, progression of the disease was noted that could only be controlled with repeated intravitreal dexamethasone implants (Ozurdex®) injected in her right eye. Her left eye underwent vitrectomy with silicone oil tamponade for tractional retinal detachment with satisfactory anatomical result but vision was limited to light perception.ConclusionsIn our case the systemic therapy was much less effective than the intravitreal sustained-release dexamethasone implant (Ozurdex®) for reducing recurrences and halting disease progression. We believe that recurrent and severe cases could benefit from this addition to the classic treatment armamentarium.
| S-EPMC6192282 | biostudies-literature
Project description:PurposeTo investigate clinical characteristics of RDH5-related fundus albipunctatus (FAP) in a Japanese cohort.MethodsTwenty-five patients from 22 pedigrees with RDH5-related FAP were studied. Ophthalmic medical records were reviewed. For genetic analysis, either Sanger sequencing of the RDH5 gene or whole-exome sequencing was performed.ResultsGenetic analysis identified eight different RDH5 variants, including seven known RDH5 variants (p.G35S, p.G107R, p.R167H, p.A240GfsX19, p.R278X, p.R280H, and p.L310delinsEV) and a novel variant: c.259C>T (p.Q87X). The most frequently observed variant was p.L310delinsEV (65.2%, 30/46 alleles). Of 50 eyes examined, 44 eyes (88.0%) showed logMAR best-corrected visual acuity (BCVA) of 0.10 or better. In optical coherence tomography, macular involvement was observed in 12 patients (24 eyes). Ten patients (83.3%) who had good BCVA (0.10 or better) exhibited diffuse disruption of the outer retina with foveal sparing, and two patients (16.7%) exhibited diffuse disruption throughout the macula and decreased BCVA. Among the 24 eyes, ring-or crescent-shaped hyperautofluorescence or irregular autofluorescence around the fovea was observed in 15 eyes (83.3%) of 18 eyes examined by fundus autofluorescence imaging. Full-field electroretinography showed extinguished or severely decreased rod responses in all 23 examined patients, whereas decreased cone responses were seen in 17 patients (73.9%).ConclusionsMultimodal imaging and electroretinography of RDH5-related FAP revealed high frequencies of macular involvement in older patients and decreased cone responses. Our findings suggest that progressive macular/cone dysfunction, as well as delayed rod function, may be key phenotypic features of RDH5-related FAP.
| S-EPMC7401827 | biostudies-literature
Project description:BACKGROUND:Alport syndrome (AS) is a genetic disease characterized by progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD), sensorineural hearing loss and ocular abnormalities. So far, a lot of mutations were reported in COL4A3, COL4A4 and COL4A5 genes, which are related to AS. METHODS:Whole-exome sequencing in combination with AS-related genes filtering strategy was applied to investigate a Chinese AS family. We also employed Sanger sequencing to confirm the family co-segregation. In addition, we also summed up a long-term follow-up data from 2003 to 2016. RESULTS:In this study, we have detected a novel insertion mutation (c.348_349insTCCGG/p.G117Sfs×40) of COL4A5, which may lead to a truncated protein in the proband. Sanger sequencing confirmed that this novel mutation was co-segregated with all the family members. The long-term follow-up data showed that the progress of chronic kidney disease become more and more serious in the proband. CONCLUSIONS:A novel mutation (c.348_349insTCCGG/p.G117Sfs×40) of COL4A5 was identified in this study. In addition, approximately 15 years long-term follow-up data was provided in this paper. Our study not only expands the spectrum of COL4A5 mutations, but also analysis the progress of AS and fills the knowledge about course and potential further complications and health risks of AS.
| S-EPMC6965389 | biostudies-literature