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BACKGROUND: KCNV2-associated retinopathy causes a phenotype reported as "cone dystrophy with nyctalopia and supernormal rod responses (CDSRR; OMIM# 610356)," featuring pathognomonic findings on electroretinography (ERG). Here, we report the clinical courses of two siblings with CDSRR. CASE REPORTS: Patient 1: A 3-year-old boy with intermittent exophoria was referred to our hospital. The patient's decimal best-corrected visual acuity (BCVA) at age 6 was 0.7 and 0.7 in the right and left eyes, respectively. Photophobia and night blindness were also observed. Because the ERG showed a delayed and supernormal b-wave with a "squaring (trough-flattened)" a-wave in the DA-30 ERG, and CDSRR was diagnosed. The patient's vision gradually worsened, and faint bilateral bull's eye maculopathy was observed at the age of 27 years, although the fundi were initially unremarkable. Genetic examination revealed a homozygous missense variant, c.529T > C (p.Cys177Arg), in the KCNV2 gene. Patient 2: The second patient was Patient 1's younger sister, who was brought to our hospital at 3 years of age. The patient presented with exotropia, mild nystagmus, photophobia, night blindness, and color vision abnormalities. The patients' decimal BCVA at age 13 was 0.6 and 0.4 in the right and left eyes, respectively, and BCVA gradually decreased until the age of 24 years. The fundi were unremarkable. The siblings had similar ERG findings and the same homozygous missense variant in the KCNV2 gene. CONCLUSIONS: The siblings had clinical findings typical of CDSRR. High-intense flash ERG is recommended for identifying pathognomonic "squaring" a-waves in patients with CDSRR.
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Distrofia del Cono , Enfermedades Hereditarias del Ojo , Canales de Potasio con Entrada de Voltaje , Agudeza Visual , Preescolar , Femenino , Humanos , Masculino , Distrofia del Cono/genética , ADN/genética , Análisis Mutacional de ADN , Electrorretinografía , Mutación Missense , Linaje , Fenotipo , Canales de Potasio con Entrada de Voltaje/genética , Retina/fisiopatología , Hermanos , Tomografía de Coherencia Óptica , Agudeza Visual/fisiología , Enfermedades Hereditarias del Ojo/genéticaRESUMEN
PURPOSE: To clarify the genetic and clinical features of Japanese patients with ABCA4-associated retinopathy. DESIGN: Retrospective, multicenter cohort study. METHODS: Patients with retinal degeneration and biallelic ABCA4 variants were recruited from 13 different hospitals. Whole exome sequencing analysis was used for genetic testing. Comprehensive ophthalmic examinations were performed on matched patients. The primary outcome measure was identifying multimodal retinal imaging findings associated with disease progression. RESULTS: This study included 63 patients: 19 with missense/missense, 23 with missense/truncation, and 21 with truncation/truncation genotypes. In total, 62 variants were identified, including 29 novel variants. Six patients had a mild phenotype characterized by foveal-sparing or preserved foveal structure, including 4 with missense/missense and 2 with missense/truncation genotypes. The p.Arg212His variant was the most frequent in patients with mild phenotypes (4/12 alleles). Clinical findings showed a disease duration-dependent worsening of the phenotypic stage. Patients with the truncation/truncation genotype exhibited rapid retinal degeneration within a few years and definite fundus autofluorescence imaging patterns, including hyper autofluorescence at the macula and few or no flecks. CONCLUSIONS: Our results indicate that missense/missense or missense/truncation genotypes, including the p.Arg212His variant, are associated with a relatively mild phenotype. In contrast, the truncation/truncation genotype causes rapid and severe retinal degeneration in Japanese patients with ABCA4-associated retinopathy. These data are vital in predicting patient prognosis, guiding genetic counseling, and stratifying patients for future clinical trials.
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Transportadoras de Casetes de Unión a ATP , Degeneración Retiniana , Adolescente , Adulto , Anciano , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Transportadoras de Casetes de Unión a ATP/genética , Análisis Mutacional de ADN , Pueblos del Este de Asia/genética , Secuenciación del Exoma , Angiografía con Fluoresceína/métodos , Genotipo , Japón/epidemiología , Mutación Missense , Fenotipo , Degeneración Retiniana/genética , Degeneración Retiniana/diagnóstico , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos , Agudeza Visual/fisiologíaRESUMEN
BACKGROUND: As gene-specific therapy for inherited retinal dystrophy (IRD) advances, unified variant interpretation across institutes is becoming increasingly important. This study aims to update the genetic findings of 86 retinitis pigmentosa (RP)-related genes in a large number of Japanese patients with RP by applying the standardised variant interpretation guidelines for Japanese patients with IRD (J-IRD-VI guidelines) built upon the American College of Medical Genetics and Genomics and the Association for Molecular Pathology rules, and assess the contribution of these genes in RP-allied diseases. METHODS: We assessed 2325 probands with RP (n=2155, including n=1204 sequenced previously with the same sequencing panel) and allied diseases (n=170, newly analysed), including Usher syndrome, Leber congenital amaurosis and cone-rod dystrophy (CRD). Target sequencing using a panel of 86 genes was performed. The variants were interpreted according to the J-IRD-VI guidelines. RESULTS: A total of 3564 variants were detected, of which 524 variants were interpreted as pathogenic or likely pathogenic. Among these 524 variants, 280 (53.4%) had been either undetected or interpreted as variants of unknown significance or benign variants in our earlier study of 1204 patients with RP. This led to a genetic diagnostic rate in 38.6% of patients with RP, with EYS accounting for 46.7% of the genetically solved patients, showing a 9% increase in diagnostic rate from our earlier study. The genetic diagnostic rate for patients with CRD was 28.2%, with RP-related genes significantly contributing over other allied diseases. CONCLUSION: A large-scale genetic analysis using the J-IRD-VI guidelines highlighted the population-specific genetic findings for Japanese patients with IRD; these findings serve as a foundation for the clinical application of gene-specific therapies.
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Retinitis Pigmentosa , Femenino , Humanos , Masculino , Distrofias de Conos y Bastones/genética , Distrofias de Conos y Bastones/patología , Pueblos del Este de Asia/genética , Predisposición Genética a la Enfermedad , Variación Genética , Japón , Amaurosis Congénita de Leber/genética , Amaurosis Congénita de Leber/patología , Mutación , Retinitis Pigmentosa/genética , Retinitis Pigmentosa/patología , Síndromes de Usher/genéticaRESUMEN
BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily affects the skin and peripheral nervous system and is caused by chromosomal abnormalities and mostly truncating variants in the NF1 gene. Ocular complications such as Lisch nodules and optic pathway gliomas (OPGs) can occur in NF1 patients. Herein, we report a novel NF1 variant in an NF1 patient with bilateral optic atrophy. METHODS: Ophthalmological examinations and genetic analyses were performed using targeted next-generation sequencing (NGS). RESULTS: A 14-year-old girl diagnosed with NF1 visited our hospital with decreased visual acuity (VA). The patient had no family history of NF1 or visual impairment. Brain and orbital magnetic resonance imaging revealed no remarkable findings. Ophthalmoscopy revealed temporal pallor of the optic discs, which was confirmed by optical coherence tomography findings of significant thinning of the circumpapillary retinal nerve fiber layer in both eyes. At 23 years of age, the decimal-corrected VA had deteriorated to 0.2 in the right eye and 0.1 in the left eye. Additionally, the targeted NGS panel revealed a novel heterozygous stop-gain variant (p.Tyr628Ter) in the NF1 gene; however, no pathogenic variants in OPA1 or the mitochondrial DNA were identified. CONCLUSIONS: A patient with NF1 without OPGs developed bilateral optic atrophy and carried a novel de novo stop-gain variant of NF1. Although the relationship between NF1 variants and bilateral optic atrophy remains unclear, further investigations are required.
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Neurofibromatosis 1 , Atrofia Óptica , Disco Óptico , Glioma del Nervio Óptico , Baja Visión , Femenino , Humanos , Adolescente , Glioma del Nervio Óptico/diagnóstico , Glioma del Nervio Óptico/genética , Glioma del Nervio Óptico/complicaciones , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 1/genéticaRESUMEN
AIM: To compare the surgical outcomes of a multifocal intraocular lens (IOL; Lentis Comfort LS-313 MF15) with those of an enhanced monofocal IOL (Tecnis Eyhance DIB00V). METHODS: This retrospective study included patients who underwent cataract surgery with LS-313 MF15 or Eyhance IOL implantation. Data regarding patient demographics, surgical records, and ophthalmic examination before the cataract surgery and one and three months postoperatively were collected. Visual acuities, refractive values, defocus curves, contrast sensitivities and subjective symptoms were evaluated. RESULTS: Among the 71 eyes (47 patients) included in this study, 32 eyes (20 patients) underwent LS-313 MF15 IOL implantation, and 39 eyes (27 patients) underwent Eyhance IOL implantation. No significant differences were observed in age, axial length, or refractive error between the two groups preoperatively. Furthermore, the distance-corrected and uncorrected distance visual acuities one month postoperatively did not differ between the groups, and both groups had sufficient visual acuities at the distances of 5, 1 m, 70, 50, and 30 cm. Other ophthalmic data, including subjective symptoms based on the 14-item Visual Function Index Questionnaire, monocular defocus curves, contrast sensitivities, and halo and glare, did not differ between the groups three months postoperatively. Moreover, both groups had good outcomes. The spherical equivalent one month postoperatively was significantly myopic in the LS-313 MF15 group compared with that in the Eyhance group (P=0.033); however, this difference was not observed three months postoperatively (P=0.471). CONCLUSION: Comparison of the surgical outcomes of LS-313 MF15 with those of Eyhance with different optical properties reveal that both IOLs show good postoperative outcomes, with no significant differences being noted between the two IOLs.
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Introduction: Congenital X-linked retinoschisis (XLRS) presents as macular retinoschisis/degeneration in almost all patients and as peripheral retinoschisis in half the patients. Although the optical coherence tomography (OCT) findings of macular retinoschisis have been well investigated, those of peripheral retinoschisis have rarely been reported. This study aimed to report the ultra-widefield OCT findings of the peripheral retina in patients with XLRS. Methods: Medical records of 10 Japanese patients (19 eyes) with clinically and/or genetically diagnosed XLRS were retrospectively reviewed. Funduscopic, electroretinographic, and OCT findings were reviewed and evaluated. Some were also genetically evaluated for the RS1 gene. Results: OCT of the macula revealed schises and/or cystoid changes in the inner nuclear layer (INL) and outer nuclear layer. In contrast, OCT of the peripheral retina revealed schises and/or cystoid changes in the INL in eight eyes (44%), and/or splitting in the ganglion cell layer (GCL) in 10 (56%) of the 18 eyes with clear OCT images. No schisis or cystoid changes were found in the peripheral OCT images of eight eyes (44%). A 16-year-old boy presented with retinal splitting of the GCL and INL of the inferior retina, although he had no ophthalmoscopic peripheral retinoschisis. Genetic examinations were performed on three patients, all of whom had reported missense mutations in the RS1 gene. Conclusion: In XLRS, peripheral bullous retinoschisis results from GCL splitting in the retina. One of the 10 patients with XLRS showed intraretinal retinoschisis in the GCL in the inferior periphery, which was unremarkable on ophthalmoscopy (occult retinoschisis). Although both peripheral bullous retinoschisis and occult retinoschisis showed splitting/cystic changes in the GCL, further studies are needed to determine whether occult retinoschisis progresses to bullous retinoschisis.
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Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy. RPGRIP1-related LCA accounts for 5-6% of LCA. We performed whole-exome sequencing and whole-genome sequencing (WGS) on 29 patients with clinically suspected LCA and examined ophthalmic findings in patients with biallelic pathogenic variants of RPGRIP1. In addition to five previously reported cases, we identified five cases from four families with compound heterozygous RPGRIP1 variants using WGS. Five patients had null variants comprising frameshift variants, an Alu insertion, and microdeletions. A previously reported 1339 bp deletion involving exon 18 was found in four cases, and the deletion was relatively prevalent in the Japanese population (allele frequency: 0.002). Microdeletions involving exon 1 were detected in four cases. In patients with RPGRIP1 variants, visual acuity remained low, ranging from light perception to 0.2, and showed no correlation with age. In optical coherence tomography images, the ellipsoid zone (EZ) length decreased with age in all but one case of unimpaired EZ. The retinal structure was relatively preserved in all cases; however, there were cases with great differences in visual function compared to their siblings and a 56-year-old patient who still had a faint EZ line. Structural abnormalities may be important genetic causes of RPGRIP1-related retinal dystrophy in Japanese patients, and WGS was useful for detecting them.
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Amaurosis Congénita de Leber , Distrofias Retinianas , Humanos , Persona de Mediana Edad , Pueblos del Este de Asia , Distrofias Retinianas/genética , Retina , Exones , Mutación del Sistema de Lectura , Amaurosis Congénita de Leber/genética , Proteínas del CitoesqueletoRESUMEN
PURPOSE: This study aimed to clarify the effect of 1-year oral treatment with 9-cis-ß-carotene-rich alga Dunaliella bardawil (Dunaliella supplementation) using full-field electroretinography (ERG) in patients with RDH5-related fundus albipunctatus (FAP). DESIGN: Prospective, interventional case series. PARTICIPANTS: The study included 12 patients (23 eyes) with RDH5-related FAP. METHODS: Twelve patients (23 eyes) with RDH5-related FAP received Dunaliella supplementation (total daily dose of ß-carotene was 74.0 mg, comprising 28.4 mg 9-cis-ß-carotene and 45.6 mg all-trans-ß-carotene at a ratio of 1:1.6) for 1 year and underwent ophthalmic examinations, including full-field ERG at baseline, 3 months, and 1 year after the initial treatment. MAIN OUTCOME MEASURES: The main outcome was changes in the amplitudes of responses of full-field ERG before and after treatment. A linear mixed-effects model was used to evaluate the adjusted mean difference between the amplitude of each response pretreatment and posttreatment. RESULTS: Prolonged dark adaptation (DA) responses at 3 months revealed a significant impairment in the b-wave of DA 0.01 (adjusted mean difference, -34.7, 95% CI, -66.8 to -2.73, P = .041) and a-wave of DA 3.0 (-29.0, 95% CI, -50.6 to -7.41, P = .013) and DA 10.0 (-40.4, 95% CI, -67.8 to -13.0, P = .007), which were also observed at 1 year. Additionally, prolonged DA and light adaptation (LA) responses revealed statistically significant impairment at 1 year in the b-wave of DA 3.0 (-43.8, 95% CI, -82.9 to -4.78, P = .035), DA 10.0 (-59.7, 95% CI, -101.8 to -17.61, P = .009), LA 3.0 (-7.31, 95% CI, -13.6 to -1.04, P = .029), and LA 3.0 flicker (-7.53, 95% CI, -12.7 to -2.34, P = .007). CONCLUSIONS: Our study results suggest that Dunaliella supplementation comprising low levels of 9-cis-ß-carotene compared with those reported in a previous study (1:1 ratio) adversely affects ERG amplitudes in patients with RDH5-related FAP.
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Distrofias Retinianas , beta Caroteno , Humanos , beta Caroteno/uso terapéutico , Estudios Prospectivos , Cápsulas , ElectrorretinografíaRESUMEN
PURPOSE: Alport syndrome comprises a heterogeneous group of inherited kidney diseases that are associated with ocular complications. In this study, we aimed to detail the clinical characteristics of a patient with X-linked Alport syndrome. METHODS: We performed next-generation sequencing (NGS) with hybridization capture to identify the disease-causing variant of Alport syndrome and a comprehensive ophthalmic examination, including full-field electroretinography (FF-ERG). RESULTS: Genetic testing using NGS with hybridization capture revealed a novel hemizygous variant [c.51_52delGA (p.Trp20GlyfsTer19)] in exon 1 of COL4A5. The patient underwent cataract surgery in both eyes because of decreased visual acuity and photophobia. The best-corrected visual acuity improved from 0.9 and 0.7 in the right and left eyes, respectively, to 1.5 in both eyes. Anterior-segment optical coherence tomography (OCT) revealed anterior and posterior lenticonus. Fundus photographs showed central and peripheral fleck retinopathy. Wide-field fundus autofluorescence (AF) imaging showed mottled hyper- and hypo-AF in the peripheral retina, which was consistent with peripheral fleck retinopathy. Furthermore, OCT revealed thinning of the inner retinal layers, especially at the temporal macular, but the outer retinal layers were preserved. Ganglion cell analysis showed no progression for 5 years. FF-ERG was performed at 41 (phakia) and 46 (pseudophakia) years of age. The amplitudes of dark-adapted (DA) and light-adapted (LA) responses showed selective b-wave abnormalities. The b/a-wave ratios of DA 3.0 were 1.22 and 1.16 in the right and left eyes, respectively. The amplitudes of DA 3.0 oscillatory potentials (OP) were reduced. Five years later, the amplitudes of DA and LA responses revealed no remarkable changes, except for an OP wave of DA 3.0, which was substantially reduced. CONCLUSIONS: Our findings revealed electroretinographic abnormalities in a patient with Alport syndrome, which predominantly indicated impairment of the inner retina. Notably, little short-term progression was observed.
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Oftalmopatías , Nefritis Hereditaria , Enfermedades de la Retina , Humanos , Colágeno Tipo IV/genética , Electrorretinografía , Nefritis Hereditaria/complicaciones , Nefritis Hereditaria/diagnóstico , Nefritis Hereditaria/genética , Retina , Tomografía de Coherencia Óptica , Adulto , Persona de Mediana EdadRESUMEN
PURPOSE: Biallelic variants in POC1B are rare causes of autosomal recessive cone dystrophy associated with generalized cone system dysfunction. In this report, we describe the clinical characteristics of a Japanese male patient with POC1B-associated retinopathy with relatively preserved cone system function. METHODS: We performed whole-exome sequencing (WES) to identify the disease-causing variants and a comprehensive ophthalmic examination, including full-field and multifocal electroretinography (ffERG and mfERG). RESULTS: Our WES analysis identified novel compound heterozygous POC1B variants (p.Arg106Gln and p.Arg452Ter) in the patient. His unaffected mother carried the p.Arg452Ter variant heterozygously. The patient experienced decreased visual acuity in his 50s. At the age of 63, his corrected visual acuity was 20/22 in the right and 20/20 in the left eye. Fundus and fundus autofluorescence images for each eye showed no remarkable finding, except for a subtle hyperautofluorescent spot in the fovea of the left eye. Cross-sectional optical coherence tomography demonstrated blurred but a relatively preserved ellipsoid zone. The ffERG showed that amplitudes of rod and standard-flash responses were within the reference range, whereas the cone and light-adapted 30-Hz flicker amplitudes were close to, or slightly below, the reference range. The mfERG revealed substantially reduced responses with relative preservation of central function. CONCLUSIONS: We reported the case of an older patient with POC1B-associated retinopathy, demonstrating late-onset visual decrease, good visual acuity, and relatively preserved cone system function. The disease condition was much milder than previously reported in patients with POC1B-associated retinopathy.
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Electrorretinografía , Distrofias Retinianas , Humanos , Masculino , Proteínas de Ciclo Celular/genética , Estudios Transversales , Fondo de Ojo , Mutación , Células Fotorreceptoras Retinianas Conos , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/genética , Tomografía de Coherencia Óptica , Persona de Mediana EdadRESUMEN
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by 6 primary features of rod-cone dystrophy, central obesity, polydactyly, cognitive impairment, hypogonadism and/or genitourinary malformations, and kidney abnormalities. At least 21 genes associated with BBS have been reported. To date, BBS associated with BBS12 variants has never been described in the Japanese population. We report a Japanese infant female with BBS with compound heterozygous BBS12 variants. METHODS: In addition to the pediatric examination, fundus photography, full-field electroretinogram(ffERG) and whole exome sequencing (WES) were underwent. RESULTS: The infant exhibited obesity, polydactyly, cognitive impairment, genitourinary malformations, and kidney dysfunction. At the age of 2 years, ffERG revealed severe reduction in both rod- and cone-mediated electroretinographic responses consistent with a severe form of rod-cone dystrophy, with minimal retinal abnormalities. WES revealed novel compound heterozygous BBS12 variants (c.591T > A, p.Tyr197* and c.1372dupA, p.Thr458Asnfs*5) in the infant. Her parents carried each of the variants, as confirmed by Sanger sequencing. CONCLUSIONS: The current observations will contribute to an expanded understanding of genotype-phenotype associations in BBS12-associated BBS.
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Síndrome de Bardet-Biedl , Distrofias de Conos y Bastones , Polidactilia , Femenino , Humanos , Síndrome de Bardet-Biedl/diagnóstico , Síndrome de Bardet-Biedl/genética , Electrorretinografía , Mutación , Polidactilia/complicacionesRESUMEN
A 36-year-old primigravid woman with suspected gestational hypertension was referred to our hospital for further examination and treatment of bilateral serous retinal detachment (SRD). At the previous hospital immediately after the onset of visual symptoms (decreased visual acuity), the best-corrected visual acuity (BCVA) had been 0.1 in the right eye (RE) and 0.08 in the left eye (LE). Funduscopy revealed diffuse SRD and white discoloration at the posterior pole but no retinal tear in both eyes (BE). Optical coherence tomography (OCT) also revealed SRD. One day after the onset, we diagnosed bilateral SRD due to preeclampsia with HELLP syndrome because of elevated blood pressure, hemolysis, elevated liver enzymes, and low platelet and performed an emergency cesarean section. One week after the onset, BCVA improved to 0.3 in BE. Funduscopy showed resolution of SRD and the remaining white discoloration at the posterior pole. OCT showed complete resolution of SRD, blurred external limiting membrane, and an invisible ellipsoid zone. OCT angiography (OCTA) segmentation of the deep retinal layer (using en face imaging) revealed multiple white materials, mainly in the macula. Although funduscopy and OCT showed almost normal appearance by 2 months after the onset, BCVA was not completely improved. OCTA using en face imaging revealed shrinkage of multiple white materials but remnant material at the posterior pole. One year after the onset, BCVA was 0.9 in the RE and 0.8 in the LE. OCTA using en face imaging revealed remnant white materials but marked improvement overall.
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Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. Here, we report the genetic characterization of 1210 IRD pedigrees enrolled through the Japan Eye Genetic Consortium and analyzed by whole exome sequencing. The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular dystrophy/cone- or cone-rod dystrophy (MD/CORD, 13%). In total, 67 causal genes were identified in 37% (448/1210) of the pedigrees. The first and second most frequently mutated genes were EYS and RP1, associated primarily with autosomal recessive (ar) RP, and RP and arMD/CORD, respectively. Examinations of variant frequency in total and by phenotype showed high accountability of a frequent EYS missense variant (c.2528G>A). In addition to the two known EYS founder mutations (c.4957dupA and c.8805C>G) of arRP, we observed a frequent RP1 variant (c.5797C>T) in patients with arMD/CORD.
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Distrofias de Conos y Bastones , Degeneración Macular , Enfermedades de la Retina , Humanos , Secuenciación del Exoma , Proteínas del Ojo/genética , Pueblos del Este de Asia , Mutación , Linaje , Distrofias de Conos y Bastones/diagnóstico , Distrofias de Conos y Bastones/genética , Enfermedades de la Retina/genética , Degeneración Macular/genética , Análisis Mutacional de ADNRESUMEN
SIGNIFICANCE: Unilateral acute idiopathic maculopathy is a rare retinochoroidal disorder, the cause of which is unknown. Multimodal retinal imaging obtained in this case suggests that the cause of unilateral acute idiopathic maculopathy is impaired choroidal circulation. PURPOSE: This study aimed to report a patient with unilateral acute idiopathic maculopathy who showed improvement of choroidal circulation over time in optical coherence tomography angiography images. CASE REPORT: A 33-year-old woman with a prodromal flu-like illness noticed a sudden central visual field abnormality in the right eye. Five days after the onset, best-corrected visual acuity was 0.15 in the right eye. Fundus photography showed a yellowish lesion at the macula in the right eye. Optical coherence tomography showed a blurred ellipsoid zone and a thickened retinal pigment epithelium at the fovea and a disrupted/blurred ellipsoid zone and retinal pigment epithelium at the parafovea. Optical coherence tomography angiography segmentation of the choriocapillaris revealed a hypointense region at the fovea with a hyperintense region surrounding it. One week after the onset, best-corrected visual acuity was improved from 0.15 to 2.0 in the right eye. Furthermore, the yellowish macula lesion shrank, and the outer retinal layers showed improvement in optical coherence tomography. Optical coherence tomography angiography showed reduction of the hypointense region and enlargement of the hyperintense region. Approximately 1 year after the onset, the yellowish lesion was faded. Optical coherence tomography revealed an almost normal ellipsoid zone but a thickened interdigitation zone. Optical coherence tomography angiography also revealed an apparent hyperintense instead of the hypointense region and increased choroidal blood flow. CONCLUSIONS: The current patient showed a gradual recovery of choroidal circulation and outer retinal layer morphology 1 year after the onset of unilateral acute idiopathic maculopathy. Optical coherence tomography angiography findings indicated that the primary cause of unilateral acute idiopathic maculopathy was impaired choroidal circulation, and choroidal vessels improved morphologically over the disease course.
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Mácula Lútea , Degeneración Macular , Enfermedades de la Retina , Adulto , Femenino , Angiografía con Fluoresceína/métodos , Humanos , Mácula Lútea/patología , Degeneración Macular/patología , Enfermedades de la Retina/diagnóstico por imagen , Enfermedades de la Retina/etiología , Tomografía de Coherencia Óptica/métodos , Agudeza VisualRESUMEN
PURPOSE: Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders. NRL-associated autosomal dominant (AD)-RP is a rare form of AD-RP in the Japanese population. This study aimed to report a clinical characterization of NRL-associated retinopathy in a three-generation Japanese family. CASE PRESENTATION: A total of 4 patients from a Japanese family were referred to The Jikei University School of Medicine for clinical and genetic examination. The patients included a male proband (41 years old), his daughters (5 and 6 years old), and his mother (71 years old); they underwent ophthalmic examinations, and genetic testing was performed using whole exome sequencing analysis, revealing a known variant [c.152C > T (p.Pro51Leu)] heterozygously in exon 2 of the NRL gene. Fundus photograph showed that retinal degeneration expanded to the macular and peripheral retina in an age-dependent manner. Fundus autofluorescence imaging showed hyper-autofluorescence (AF) within the macular with slightly hypo-AF in younger patients and obvious hypo-AF in older patients. Optical coherence tomography showed that the length of the ellipsoid zone tended to be longer in younger patients than in older patients. Goldmann perimetry showed an age-dependent decrease in the visual field. Furthermore, full-field electroretinographic findings revealed non-recordable rod and cone function in older patients and non-recordable rod function with preserved cone function in younger patients. CONCLUSIONS: Our results indicated that retinal construction and function were aggravated in an age-dependent manner, and retinal degeneration, especially in the macular region, revealed milder findings than in previous cases with NRL-associated AD-RP.
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Degeneración Retiniana , Retinitis Pigmentosa , Adulto , Anciano , Niño , Preescolar , Electrorretinografía , Femenino , Humanos , Japón , Masculino , Mutación , Linaje , Retinitis Pigmentosa/diagnóstico , Retinitis Pigmentosa/genética , Tomografía de Coherencia ÓpticaRESUMEN
Individuals with pachydrusen, larger than 125 µm, have a significantly thicker choroid than do those with soft drusen or reticular pseudodrusen. Little is known about cases of abnormal blood flow within pachydrusen. The purpose of this report was to demonstrate a blood flow signal within pachydrusen using optical coherence tomography (OCT) angiography. A 76-year-old Japanese woman presented with innumerable drusen/pachydrusen in both posterior poles. Her visual acuity was good. OCT showed subfoveal pachydrusen in the left eye, but no exudative changes. The subfoveal choroidal thickness was increased to 274 µm in the left eye. OCT angiography revealed a blood flow signal within the pachydrusen. However, fluorescein and indocyanine green angiographies indicated no abnormal hyperfluorescent lesion in the macula of the left eye. During the 13-month follow-up, the blood flow signal in OCT angiography did not change in diameter, and no exudative change was observed. The blood flow signal may have properties of capillary blood vessels derived from the choriocapillaris, rather than angiogenic vessels from choroidal neovascularization or polypoidal choroidal vasculopathy/aneurysmal type 1 neovascularization.
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ABSTRACT: To investigate changes in the corneal shape caused by fluid-gas exchange after vitrectomy.This retrospective case-control study included 43 eyes that underwent a combination of cataract surgery and vitrectomy. The corneal shape was measured using anterior segment optical coherence tomography CASIA2. The corneal shape measurements were performed preoperatively, 1âday, 1âweek, 1âmonth, and 3âmonths after surgery. After calculating the real K value from the actual measured values of the posterior shape of the corneal refracting power and the single posterior corneal refracting power value, Fourier analysis values were examined. Fluid-gas exchange was performed in 23 eyes (gas group), while it was not performed in 20 eyes (nongas group).There was a significant increase in the real K value in the regular and asymmetry components (0.61â±â0.36, 0.82â±â0.64) in the gas group only on the first day after surgery (Steel-Dwass test; Pâ<â.05). There was also a significant increase in the real K value in the higher-order irregular astigmatism components (Steel-Dwass test; Pâ<â.05) for longer periods in the gas versus the nongas group. The shape of the posterior cornea increased in all components in the gas group on the first day after surgery (spherical power -6.35â±â0.20, regular astigmatism 0.32â±â0.12, asymmetry 0.22â±â0.13, and higher-order irregular astigmatism 0.12â±â0.05, Steel-Dwass test; Pâ<â.05).Postoperative changes caused by surgical invasion in the corneal shape appeared to be greater in the gas versus the nongas group, in addition to affecting the time periods of the postoperative corneal shape changes.
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Astigmatismo , Cirugía Vitreorretiniana , Estudios de Casos y Controles , Córnea/cirugía , Topografía de la Córnea , Humanos , Estudios Retrospectivos , AceroRESUMEN
BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disorder that affects multiple organs, including the muscle and eye, caused by a CTG triplet expansion of the 3' untranslated region (UTR) of the DMPK gene. Cataracts and retinal degeneration are major eye complications in patients with DM1. We reported the case of a Japanese patient with DM1 who exhibited submacular hemorrhage unilaterally, rarely complicating DM1. CASE REPORT: A 56-year-old woman presented with loss of visual acuity in the left eye (LE). The patient was diagnosed with DM1, who carried expanded CTG repeats (1100) of the 3' UTR of DMPK. Her corrected visual acuities were 20/100 and 20/2000 in the right eye (RE) and LE, respectively. Cataracts were observed in both eyes. Fundoscopy and angiography revealed submacular hemorrhage in the LE due to polypoidal choroidal vasculopathy (PCV, also known as aneurysmal type 1 neovascularization). The patient underwent intravitreal injections of an anti-vascular endothelial growth factor drug and sulfur hexafluoride gas in the LE. Full-field electroretinography was performed, showing that the rod and standard-flash responses were reduced to 50% and below 10% in the RE and LE, whereas the cone and 30-Hz flicker responses were reduced to 40-50% and 15-20% in the RE and LE, respectively, compared with the controls. Multifocal electroretinography revealed that the overall responses were extinguished in the LE and considerably attenuated in the RE. CONCLUSIONS: This is the first patient with DM1 complicated with PCV. Widespread retinal dysfunction may be associated with expanded CTG repeats, which is significantly longer than the mean repeat number of patients with DM1.
Asunto(s)
Catarata , Oftalmopatías , Distrofia Miotónica , Catarata/complicaciones , Electrorretinografía , Oftalmopatías/complicaciones , Femenino , Humanos , Inyecciones Intravítreas , Persona de Mediana Edad , Distrofia Miotónica/complicaciones , Distrofia Miotónica/diagnóstico , Distrofia Miotónica/genética , Proteína Quinasa de Distrofia Miotónica/genética , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/etiologíaRESUMEN
PURPOSE: To determine the characteristics of eyes diagnosed with Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB) complicated by choroidal neovascularization (CNV). METHODS: This was a retrospective, multicenter observational case series. Fourteen genetically confirmed BVMD patients and 9 ARB patients who had been examined in 2 ophthalmological institutions in Japan were studied. The findings in a series of ophthalmic examinations including B-scan optical coherence tomography (OCT) and OCT angiography (OCTA) were reviewed. RESULTS: CNV was identified in 5 eyes (17.9%) of BVMD patients and in 2 eyes (11.1%) of ARB patients. Three of 5 eyes with BVMD were classified as being at the vitelliruptive stage and 2 eyes at the atrophic stage. The CNV in 2 BVMD eyes were diagnosed as exudative because of acute visual acuity reduction, retinal hemorrhage, and intraretinal fluid, while the CNV in 3 BVMD eyes and 2 ARB eyes were diagnosed as non-exudative. The visual acuity of the two eyes with exudative CNV did not improve despite anti-VEGF treatments. None of the eyes with non-exudative CNV had a reduction of their visual acuity for at least 4 years. All of the CNV were located within hyperreflective materials which were detected in 16 eyes (57.1%) of the BVMD eyes and in 7 eyes (38.9%) of the ARB eyes. CONCLUSIONS: CNV is a relatively common complication in BEST1-related retinopathy in Asian population as well. The prognosis of eyes with exudative CNV is not always good, and OCTA can detect CNV in eyes possessing hyperreflective materials.
Asunto(s)
Bestrofinas , Neovascularización Coroidal , Enfermedades de la Retina , Distrofia Macular Viteliforme , Bestrofinas/genética , Neovascularización Coroidal/diagnóstico , Neovascularización Coroidal/tratamiento farmacológico , Neovascularización Coroidal/etiología , Angiografía con Fluoresceína/métodos , Humanos , Japón , Enfermedades de la Retina/diagnóstico , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos , Distrofia Macular Viteliforme/complicaciones , Distrofia Macular Viteliforme/diagnósticoRESUMEN
BACKGROUND: The reported features and effectiveness of heads-up surgery (HUS) for ophthalmic surgery include greater resolution, teaching, and significantly reduced endoillumination power. OBJECTIVE: To report how to care for severe intraoperative photophobia using the HUS system during bilateral rhegmatogenous retinal detachment (RD) surgery in a patient with severe photophobia. CASE REPORT: A man in his 50s, who had been followed up for photophobia and visual impairment underwent five ophthalmic surgeries for bilateral RD. In his early 40s, he had been referred to our hospital because of a complaint of bilateral visual impairment, including severe photophobia, approximately 2 years prior. His decimal best-corrected visual acuities were 0.7 and 0.6 in his right and left eyes, respectively. Optical coherence tomography showed diffuse thinning of the entire retinal layer in the macula of both eyes, which was considered to be a cause of the decrement of visual acuity and photophobia. Twelve years after his first visit, he noticed multiple floaters in his left eye. For RD excluding the macular area, we planned cataract and retinal surgery under retrobulbar anesthesia. However, as we could not continue retinal surgery after cataract surgery due to severe photophobia, we performed general anesthesia (GA) during the second surgery. Seventeen months after the surgery, he underwent the third surgery for RD in his right eye under GA. For RD recurring twice, we performed surgery with the HUS system under retrobulbar anesthesia for the fourth and fifth surgeries, which avoided photophobia due to the significantly reduced light stimulation of the HUS system. CONCLUSION: Lower light intensity achieved by the HUS system enabled us to eliminate the patient's intraoperative discomfort. Consequently, we could perform the surgery under local anesthesia in this patient with RD who complained of severe photophobia that required GA using a conventional surgical system.