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Purpose: To investigate clinical characteristics of RDH5-related fundus albipunctatus (FAP) in a Japanese cohort. Methods: Twenty-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. Results: Genetic 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%). Conclusions: Multimodal 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.
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Oxirredutases do Álcool/genética , Povo Asiático/genética , Células Fotorreceptoras Retinianas Cones/fisiologia , Doenças Retinianas/genética , Doenças Retinianas/fisiopatologia , Células Fotorreceptoras Retinianas Bastonetes/fisiologia , Adolescente , Adulto , Idoso , Criança , Eletrorretinografia , Feminino , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Linhagem , Doenças Retinianas/diagnóstico por imagem , Estudos Retrospectivos , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia , Sequenciamento Completo do Genoma , Adulto JovemRESUMO
PURPOSE: To investigate changes in the corneal shape before and after vitrectomy, over a period of time, using a 27-gauge system. METHODS: Forty-five eyes underwent a combination of cataract surgery and vitrectomy. The surgeries were performed using a 27-gauge transconjunctival vitrectomy system, in which the corneal topography could be performed up to three months after the surgery. The surgeries were performed for an epiretinal membrane in 11 eyes, a macular hole in 14 eyes, and rhegmatogenous retinal detachment in 20 eyes. All of the surgeries were performed by the same surgeon, and in all cases, a 4-port 27-gauge vitrectomy device was used. Cataract surgery in all patients was performed with a 2.4 mm corneoscleral incision at 11 o'clock. The surgeries were performed without suturing the operative wound in all cases. Corneal topography was performed using a TMS-4 topographer (Tomey Corporation, Tokyo, Japan). The examinations were performed the day before and 1 day, 1 week, 1 month, and 3 months after the surgery. The results of corneal topography for the spherical, regular astigmatic, asymmetric, and high-order irregular astigmatic components were compared before and after surgery. RESULTS: No significant differences were seen in any of the components in the epiretinal membrane group, but significant differences were seen in the asymmetric components and the high-order irregular astigmatic components between the macular hole and rhegmatogenous retinal detachment groups (p < 0.05). There were no significant changes in intraocular pressure on any measurement time in the postoperative period compared to preoperative intraocular pressure. CONCLUSION: Irregular astigmatism was seen after surgery when 27-gauge vitrectomy with a 4-port system was performed together with cataract surgery with a 2.4 mm incision.
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BACKGROUND AND OBJECTIVE: To follow the long-term course of visual acuity (VA) and central retinal thickness (CRT) over at least a 3-year follow-up after vitreous surgery in patients with epiretinal membrane (ERM). PATIENTS AND METHODS: This study examined 43 eyes of patients who underwent 23- or 25-gauge vitreous surgery for ERM. RESULTS: There was significant improvement of the VA at 3 months after surgery compared with baseline, with the improvements maintained for 5 years (analysis of variance [ANOVA]; P < .05). There was a significant decrease in the mean CRT from 1 month up to 5 years (ANOVA; P < .05). There was also a significantly worse mean VA found for cases exhibiting an outer retinal layer disorder before surgery. CONCLUSION: Disorders of the outer layer of the retina before surgery have an influence on the VA outcome, with changes sometimes occurring even after the long-term postoperative follow-ups. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e105-e111.].
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Membrana Epirretiniana/cirurgia , Retina/diagnóstico por imagem , Acuidade Visual , Vitrectomia/métodos , Idoso , Membrana Epirretiniana/diagnóstico , Membrana Epirretiniana/fisiopatologia , Feminino , Seguimentos , Humanos , Pressão Intraocular/fisiologia , Masculino , Período Pós-Operatório , Estudos Retrospectivos , Fatores de Tempo , Tomografia de Coerência Óptica , Resultado do TratamentoRESUMO
PURPOSE: To report clinical and genetic features including long-term full-field electroretinography (FF-ERG) findings of a patient with cone dystrophy with supernormal rod responses (CDSRR). METHODS: Ophthalmological medical records including FF-ERG were retrospectively reviewed. Genetic analysis using whole-exome sequencing (WES) was performed. Identified KCNV2 variants were confirmed by Sanger sequencing. RESULTS: A 30-year-old female patient was referred to our hospital for assessment of decreased vision from childhood. Funduscopy showed macular atrophy in both eyes. FF-ERG showed decreased amplitudes and delayed peak time of b-waves for dark-adapted (DA) 0.01 ERG, increased b/a-wave ratio with a slightly diminished a-wave for DA 3.0 and DA 25.7 ERG, residual a-waves and almost extinguished b-waves for light-adapted (LA) 3.0 ERG, and extremely diminished amplitudes in LA 30-Hz flicker responses. At 45 years of age, funduscopy showed progressive macular atrophy, whereas the responses for her FF-ERG remained unchanged compared to those observed at 30 years of age. WES identified the compound heterozygous KCNV2 variants (p.W67X and p.D174GfsX198) in the patient. These variants have previously been unreported as pathogenic variants. Each parent had one of the variants. Subsequently, the patient was finally diagnosed with CDSRR with the novel compound heterozygous KCNV2 variants. CONCLUSIONS: Biallelic loss-of-function KCNV2 variants (p.W67X and p.D174GfsX198) were identified as the cause of CDSRR. Long-term FF-ERG findings demonstrated there were no ERG changes during 15 years of observation, indicating that there was no evidence of progressive peripheral retinal dysfunction, in spite of worsening macular atrophy.
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Canais de Potássio de Abertura Dependente da Tensão da Membrana/genética , Células Fotorreceptoras Retinianas Bastonetes/fisiologia , Retinose Pigmentar/genética , Adulto , Eletrorretinografia , Feminino , Seguimentos , Humanos , Oftalmoscopia , Linhagem , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/fisiopatologia , Estudos Retrospectivos , Tomografia de Coerência Óptica , Campos Visuais/fisiologia , Sequenciamento do ExomaRESUMO
PURPOSE: In this study, we used the PuREC to carry out electroretinography (ERG) measurements using skin electrodes to assess changes before and after microincision vitreous surgery (MIVS) for epiretinal membrane (ERM) and evaluate the stress on retinal function soon after MIVS. METHODS: The study subjects were 18 eyes of 18 patients who underwent MIVS for ERM simultaneously with cataract surgery. ERG measurements were performed using a skin electrode on the day before vitreous surgery, on the day after surgery, and 1 week later. The amplitude and implicit time of each waveform were measured, and the changes between preoperative results and those 1 day and 1 week postoperatively were investigated. RESULTS: Preoperatively, the dark-adapted (DA) 0.01 ERG, the DA 3.0 ERG a-wave amplitude, and the light-adapted (LA) 3.0 ERG b-wave amplitude were significantly smaller in affected eyes compared with their fellow eyes (P < 0.05, Wilcoxon's signed-rank test). The day after surgery, all-wave amplitude showed no significant difference compared to preoperatively (repeated-measures analysis of variance (ANOVA) post hoc test). One week after surgery, the LA 3.0 ERG for b-waves and flicker ERG amplitude had improved from the value on the day after surgery (P < 0.05, ANOVA post hoc test). CONCLUSIONS: Cone ERG components have improved within 1 week after surgery by MIVS for ERM.
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Extração de Catarata/métodos , Eletrorretinografia , Membrana Epirretiniana/cirurgia , Retina/fisiopatologia , Vitrectomia/métodos , Idoso , Análise de Variância , Eletrodos , Eletrorretinografia/métodos , Membrana Epirretiniana/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cuidados Pós-Operatórios , Células Fotorreceptoras Retinianas Cones/fisiologiaAssuntos
Coroideremia/genética , Família 4 do Citocromo P450/genética , Variação Genética , Coroideremia/diagnóstico , Coroideremia/fisiopatologia , Eletrorretinografia , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Retina/fisiologia , Testes de Campo Visual , Campos Visuais/fisiologiaRESUMO
BACKGROUND: This is the first report of vitreous surgery for traction retinal detachment in a patient with type III Gaucher disease with multiple vitreous opacities. MATERIALS AND METHODS: A 16-year-old boy who was diagnosed with Gaucher disease at age two and was undergoing enzyme replacement therapy presented with numerous white opacities of varying sizes in the vitreous bodies of both eyes. Visual acuity was 20/40 in the right eye and 20/2000 in the left eye. The retina of the left eye was completely detached, and vitreous surgery was performed. RESULTS: Liquefaction of the vitreous body was advanced, and the central part of the vitreous cavity contained almost no vitreous humor. The macular region was successfully aspirated with a vitreous cutter to form a posterior vitreous detachment. From the optic disk to the nasal side, however, posterior vitreous detachment formation was prevented by strong adhesions between the retina and the vitreous body. The traction retinal detachment of the posterior fundus improved after vitreous body resection alone. CONCLUSIONS: Traction retinal detachment may occur as a result of severe vitreous liquefaction in cases of Gaucher disease with numerous vitreous opacities.
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Oftalmopatias/etiologia , Doença de Gaucher/complicações , Descolamento Retiniano/etiologia , Corpo Vítreo/patologia , Adolescente , Terapia de Reposição de Enzimas , Oftalmopatias/diagnóstico , Oftalmopatias/cirurgia , Angiofluoresceinografia , Doença de Gaucher/terapia , Glucosilceramidase/uso terapêutico , Humanos , Masculino , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/cirurgia , Tomografia de Coerência Óptica , Tração , Acuidade Visual , VitrectomiaAssuntos
Betametasona/análogos & derivados , Doenças da Coroide/complicações , Degeneração Retiniana/complicações , Perfurações Retinianas/tratamento farmacológico , Adulto , Betametasona/administração & dosagem , Corioide/patologia , Doenças da Coroide/congênito , Doenças da Coroide/diagnóstico , Angiofluoresceinografia , Seguimentos , Fundo de Olho , Glucocorticoides/administração & dosagem , Humanos , Masculino , Soluções Oftálmicas , Degeneração Retiniana/congênito , Degeneração Retiniana/diagnóstico , Perfurações Retinianas/diagnóstico , Perfurações Retinianas/etiologia , Epitélio Pigmentado da Retina/patologia , Tomografia de Coerência Óptica , Acuidade Visual , VitrectomiaRESUMO
BACKGROUND AND OBJECTIVE: To report the clinical features of Japanese patients at Stage 1 and 2 of central areolar choroidal dystrophy (CACD). PATIENTS AND METHODS: Five family members had comprehensive ophthalmic examinations including adaptive optics (AO) retinal imaging. Mutation analysis of the PRPH2 gene was performed by Sanger sequencing. The protocol conformed to the tenets of the Declaration of Helsinki and was approved by the institutional review board of The Jikei University School of Medicine. RESULTS: Four family members had a heterozygous PRPH2 mutation, p.R172Q; however, one member with a mutation did not show any ophthalmological abnormalities. Two patients had mild parafoveal retinal dystrophy and a reduction of cone density determined by AO analysis. CONCLUSION: The results indicate that the parafoveal cone photoreceptors can be affected even at the early stage of CACD. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:1115-1126.].
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Doenças da Coroide/diagnóstico , Angiofluoresceinografia/instrumentação , Mutação , Óptica e Fotônica , Periferinas/genética , Retina/patologia , Tomografia de Coerência Óptica/instrumentação , Adulto , Doenças da Coroide/genética , Doenças da Coroide/metabolismo , Progressão da Doença , Eletrorretinografia , Feminino , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Oftalmoscópios , Linhagem , Periferinas/metabolismo , Retina/fisiopatologia , Células Fotorreceptoras Retinianas Cones/patologia , Adulto JovemRESUMO
PURPOSE: To report the clinical and genetic findings of 9 Japanese patients with autosomal recessive bestrophinopathy (ARB). DESIGN: Retrospective, multicenter observational case series. METHODS: Nine ARB patients from 7 unrelated Japanese families that were examined in 3 institutions in Japan were studied. A series of ophthalmic examinations including fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence, electrooculography (EOG), electroretinography, and the results of genetic analysis were reviewed. RESULTS: Genetic analyses identified 7 pathogenic variants in BEST1 including 2 novel variants, c.478G>C (p.A160P) and c.948+1delG. Homozygous variants were found in 4 families and compound heterozygous variants were found in 3 families. Two patients were diagnosed as ARB only after the whole exome sequencing analyses. The Arden ratio of the EOG was less than 1.5 in all 7 patients tested. Vitelliform lesions typical for Best vitelliform macular dystrophy were not seen in any of the patients. Seven patients shared some of the previously described features of ARB: subretinal deposits, extensive subretinal fluid, and cystoid macular edema (CME). However, the other 2 patients with severe retinal degeneration lacked these features. Focal choroidal excavations were present bilaterally in 2 patients. One case had a marked reduction of the CME and expansion of subretinal deposits over an 8-year of follow-up period. CONCLUSIONS: Japanese ARB patients had some but not all of the previously described features. Genetic analyses are essential to diagnose ARB correctly in consequence of considerable phenotypic variations.
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Oftalmopatias Hereditárias , Doenças Retinianas , Adolescente , Adulto , Povo Asiático , Bestrofinas , Canais de Cloreto/genética , Análise Mutacional de DNA , Oftalmopatias Hereditárias/genética , Oftalmopatias Hereditárias/patologia , Oftalmopatias Hereditárias/fisiopatologia , Proteínas do Olho/genética , Feminino , Humanos , Japão , Edema Macular/patologia , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Doenças Retinianas/genética , Doenças Retinianas/patologia , Doenças Retinianas/fisiopatologia , Estudos Retrospectivos , Líquido Sub-Retiniano/metabolismo , Acuidade Visual , Adulto JovemRESUMO
The authors previously reported details on enhanced S-cone syndrome (ESCS) in a 23-year-old male patient with a homozygous NR2E3 mutation (p.Q350X) who developed large bilateral macular retinoschisis. Subsequent optical coherence tomography follow-up showed that although the large bilateral macular retinoschisis remained at the age of 28, there was dramatic improvement in the retinoschisis by the age 32, with bilateral resolution of the macular retinoschisis without any treatment by the age of 34. Although there is no established treatment for macular retinoschisis complicated by ESCS, this case demonstrated that intervention may not be required in some patients with ESCS.
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Oftalmopatias Hereditárias/fisiopatologia , Degeneração Retiniana/fisiopatologia , Retinosquise/fisiopatologia , Transtornos da Visão/fisiopatologia , Adulto , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética , Seguimentos , Humanos , Masculino , Receptores Nucleares Órfãos/genética , Remissão Espontânea , Degeneração Retiniana/diagnóstico , Degeneração Retiniana/genética , Retinosquise/diagnóstico , Retinosquise/genética , Tomografia de Coerência Óptica , Transtornos da Visão/diagnóstico , Transtornos da Visão/genética , Acuidade Visual/fisiologia , Testes de Campo Visual , Campos VisuaisRESUMO
We report herein a method for the treatment of dropped nucleus during cataract surgery with a 27-gauge twin duty cycle (TDC) vitreous cutter. When a TDC vitreous cutter is used, suction flow volume is maintained even when the cutter is driven at a high speed. This enables an Emery-Little grade 3 nucleus that had been difficult to treat with a conventional 27-gauge cutter to be successfully excised using only a vitreous cutter, with no intra- or postoperative complications. A dropped lens during cataract surgery of up to moderate hardness can be removed using a TDC cutter alone with a 27-gauge cutter system.
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PURPOSE: More than 50 genes are reported as causative genes of autosomal recessive (ar) retinitis pigmentosa (RP) and cone-rod dystrophy (CRD). It is challenging to identify causative mutations for arRP and arCRD. The purpose of the present study was to investigate clinical and genetic features of two siblings with early-onset retinal dystrophy. METHODS: Whole-exome sequencing was conducted for the two affected siblings and their unaffected brother and mother from a Japanese family. We performed complete ophthalmic examinations, including visual acuity, funduscopy, visual-field testing, electroretinography and optical coherence tomography. RESULTS: Whole-exome sequencing analysis identified novel compound heterozygous mutations, a splice site mutation (c.374 + 2T > C in intron 4) and a deletion mutation (c.575delC [p.T192MfsX28] in exon 6) of chromosome 8 open reading frame 37 (C8orf37) gene, which encodes a ciliary protein, in both patients. The mother carried the truncating mutation, and the brother carried neither mutation. Ophthalmic examinations revealed diffuse retinal degeneration, macular atrophy, non-recordable electroretinography responses, cataracts, and high myopia in both patients, who could not be diagnosed with either RP or CRD because of the severe retinal degeneration and early onset disease. Longitudinal follow-up of the patients revealed highly progressive retinal degeneration, macular atrophy, and visual field loss. CONCLUSIONS: Recessive C8orf37 mutations have been identified in early to adolescent-onset arRP and arCRD with macular involvement. Our study identified two novel truncating mutations of the C8orf37 gene in siblings with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia.
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Catarata/genética , Atrofia Geográfica/genética , Mutação , Miopia Degenerativa/genética , Proteínas/genética , Distrofias Retinianas/genética , Adulto , Sequência de Bases , Catarata/diagnóstico , Catarata/fisiopatologia , Análise Mutacional de DNA , Eletrorretinografia , Exoma/genética , Feminino , Angiofluoresceinografia , Atrofia Geográfica/diagnóstico , Atrofia Geográfica/fisiopatologia , Humanos , Masculino , Dados de Sequência Molecular , Miopia Degenerativa/diagnóstico , Miopia Degenerativa/fisiopatologia , Linhagem , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/fisiopatologia , Irmãos , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia , Campos Visuais/fisiologiaRESUMO
PURPOSE: To compare the efficacy of intravitreal injection of triamcinolone acetonide (IVTA) for diabetic macular edema (DME) in vitrectomized eyes with DME without vitrectomy eyes. METHODS: This retrospective comparative study evaluated the efficacy of IVTA treatment of DME in 26 consecutive eyes (23 patients). Changes in mean best-corrected visual acuity (VA) and mean central retinal thickness (CRT) were retrospectively evaluated before IVTA and during the 6-month period after IVTA. RESULTS: Subjects were divided into 2 groups: 13 consecutive eyes (11 patients) with proliferative diabetic retinopathy or DME that underwent vitrectomy (vitrectomized group), and 13 consecutive eyes (12 patients) with DME who received IVTA, but did not undergo vitrectomy (nonvitrectomized group). In the vitrectomized group, there was a significantly decreased CRT for up to 4 months as compared to the thicknesses before IVTA. In the nonvitrectomized group, there was a significantly decreased CRT for up to 5 months after IVTA. In both groups, there was significant improvement in the VA for up to 4 months after IVTA. CONCLUSION: IVTA may represent a valid treatment option for DME, even in vitrectomized eyes.
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Retinopatia Diabética/tratamento farmacológico , Edema Macular/tratamento farmacológico , Triancinolona Acetonida/uso terapêutico , Vitrectomia , Adulto , Idoso , Retinopatia Diabética/cirurgia , Feminino , Humanos , Edema Macular/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia de Coerência Óptica , Triancinolona Acetonida/administração & dosagemRESUMO
UNLABELLED: We describe a trisection technique for extracting a dislocated IOL through a small surgical incision. The dislocated IOL is brought into the anterior chamber and cut into 3 equal segments, with a negligible risk for the segments falling into the vitreous cavity. FINANCIAL DISCLOSURE: No author has a financial or proprietary interest in any material or method mentioned.
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Migração do Implante de Lente Intraocular/cirurgia , Microcirurgia/métodos , Procedimentos Cirúrgicos Oftalmológicos , Idoso , Humanos , Implante de Lente Intraocular , Masculino , Facoemulsificação , Esclera/cirurgiaRESUMO
BACKGROUND AND OBJECTIVE: To determine the efficacy of the pedicle internal limiting membrane (ILM) transposition flap technique for refractory macular holes (MHs) in which the inverted ILM flap technique cannot be performed. PATIENTS AND METHODS: The pedicle ILM flap transposition technique was conducted by transconjunctival microincision vitrectomy. The authors attempted to peel the remaining ILM inferior from the MH to create an ILM flap. This ILM was still attached to the retina at the upper part of the MH and covered the MH. Finally, fluid-gas exchange was performed. After surgery, patients remained face-down for 1 week. This procedure was performed in two eyes. RESULTS: There were no adverse events, and MHs were closed successfully in both study eyes. CONCLUSION: The pedicle ILM flap transposition technique has the potential to improve functional and anatomical outcomes in patients with refractory MHs.
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Membrana Basal/transplante , Procedimentos Cirúrgicos Oftalmológicos , Perfurações Retinianas/cirurgia , Retalhos Cirúrgicos , Tamponamento Interno , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Decúbito Ventral , Hexafluoreto de Enxofre/administração & dosagem , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: To describe male acute zonal occult outer retinopathy (AZOOR) patients with improvement of photoreceptor structure and visual function. CASE SERIES: Medical records for eight eyes in seven patients (mean age, 36.9 years; range, 22 to 57 years) with AZOOR were reviewed retrospectively. Of the seven patients, four were treated with high-dose methylprednisolone therapy and three were not treated. All patients presented with photopsias and severe vision loss in the affected eyes. Visual acuity ranged from 0.2 to 1.5 on a Snellen decimal scale and Humphrey visual field testing showed blind spot enlargement or ring scotomas. Fundus and angiographic examinations found no specific abnormalities, leading to a diagnosis of AZOOR. Spectral domain optical coherence tomography showed attenuation of the photoreceptor inner segment ellipsoid zone. Multifocal electroretinography demonstrated that there were decreased responses at the site of the spectral domain optical coherence tomography abnormalities and corresponding visual field loss. Three patients had a spontaneous resolution with restoration of photoreceptor structure and visual function, and four patients had a visual improvement with restoration of photoreceptor structure and visual function after steroid pulse therapy. CONCLUSIONS: These results suggest that male AZOOR patients may have a tendency of visual improvement both with and without treatment.
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Células Fotorreceptoras de Vertebrados/fisiologia , Escotoma/fisiopatologia , Adulto , Glucocorticoides/uso terapêutico , Humanos , Masculino , Metilprednisolona/uso terapêutico , Pessoa de Meia-Idade , Estudos Retrospectivos , Escotoma/tratamento farmacológico , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia , Testes de Campo Visual/métodos , Campos Visuais/fisiologia , Síndrome dos Pontos Brancos , Adulto JovemRESUMO
PURPOSE: To describe the clinical and genetic features of Japanese patients with Best's vitelliform macular dystrophy (BVMD). PATIENTS AND METHODS: This study examined 22 patients, including 16 probands from 16 families with BVMD. Comprehensive ophthalmic examinations were performed, including dilated funduscopy, full-field electroretinography (ERG) and electro-oculography (EOG). BEST1 mutation analysis was performed by Sanger sequencing. RESULTS: All 16 probands exhibited characteristic BVMD fundus appearances, abnormal EOG, and normal ERG responses with the exception of one diabetic retinopathy proband. Genetic analysis identified 12 BEST1 variants in 13 probands (81%). Of these, 10 variants (p.T2A, p.R25W, p.F80L, p.V81M, p.A195V, p.R218H, p.G222E, p.V242M, p.D304del and p.E306D) have been previously reported in BVMD, while two variants (p.S7N and p.P346H) were novel, putative disease-causing variants. Single BEST1 variants were found in 12 probands. The one proband with compound heterozygous variants (p.S7N and p.R218H) exhibited typical BVMD phenotypes (pseudohypopyon stage and vitelliruptive stage in the right and left eyes, respectively). CONCLUSIONS: Twelve different variants, two of which (p.S7N and p.P346H) were novel, were identified in the 13 Japanese families with BVMD. Compound heterozygous variants were found in one proband exhibiting a typical BVMD phenotype. Our results suggest that BEST1 variants do play a large role in Japanese patients with BVMD.
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Canais de Cloreto/genética , Proteínas do Olho/genética , Polimorfismo de Nucleotídeo Único , Distrofia Macular Viteliforme/genética , Povo Asiático/genética , Bestrofinas , Análise Mutacional de DNA , Eletroculografia , Eletrorretinografia , Éxons/genética , Feminino , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Oftalmoscopia , Linhagem , Periferinas/genética , Fenótipo , Reação em Cadeia da Polimerase , Tomografia de Coerência Óptica , Distrofia Macular Viteliforme/diagnósticoRESUMO
PURPOSE: To characterize the peripheral cones in the images obtained by spectral-domain optical coherence tomography (OCT), swept source OCT, and adaptive optics fundus camera in a patient with peripheral cone dystrophy. METHODS: A 28-year-old Japanese man underwent detailed ophthalmic evaluations including high-resolution imaging of the fundus of both eyes. RESULTS: The decimal best-corrected visual acuity was 1.2 in both eyes. The results of slit-lamp biomicroscopy and ophthalmoscopy were essentially normal. Fluorescein and indocyanine green angiographies did not show any hyper- or hypofluorescent areas of the retina. Goldmann perimetry showed full peripheral visual fields but relative central scotomas within the central 20°. The results of the Humphrey Visual Field Analyzer showed a limited preservation of the central sensitivity. Color vision tests showed no errors in both eyes. Spectral-domain OCT showed attenuation of both the ellipsoid and interdigitation zones throughout the macular region except the center of the fovea. The scotopic full-field ERGs were normal, but the photopic ERGs were markedly reduced. Regular cone mosaics were not observed especially more than 450 µm radius from the fovea in the adaptive optics retinal images. The parafoveal cone densities were severely decreased in both eyes. CONCLUSIONS: Our findings indicate that the peripheral cone dystrophy diagnosed by full-field ERGs and perimetry is due to a reduction in the density of parafoveal and peripheral cones.
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Imagem Multimodal , Células Fotorreceptoras Retinianas Cones/patologia , Retinose Pigmentar/diagnóstico , Adulto , Corantes , Eletrorretinografia , Angiofluoresceinografia , Humanos , Verde de Indocianina , Masculino , Fotografação , Retinose Pigmentar/fisiopatologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual/fisiologia , Testes de Campo Visual , Campos Visuais/fisiologiaRESUMO
PURPOSE: Spinocerebellar ataxia type 7 (SCA7) is a disease characterized by progressive ataxia syndrome and retinal degeneration. SCA7 is caused by expansion of CAG repeats in the ataxin 7 gene. The purpose of this study was to describe the clinical and genetic features in a two-generation Japanese family with SCA7. METHODS: The female proband underwent systemic examinations that included neurological and ophthalmic examinations and magnetic resonance imaging (MRI) scans. We interviewed her affected mother about the clinical history at the bedside. Genomic DNA was purified from peripheral blood lymphocytes. The number of CAG repeats in the proband, and her affected mother was determined by a polymerase chain reaction-based assay that used the GeneScan analysis software. RESULTS: Neurological examinations showed limb ataxia, truncal ataxia, explosive speech, and hyperactive deep tendon reflexes. The MRI scans showed atrophy of the cerebellum and fundus of pons and tegmentum. Ophthalmologically, loss of visual acuity, macular degenerations, and central scotomas were observed in both eyes. Full-field electroretinography revealed reduced cone responses with preserved rod responses. The mother had hand-motion vision. Genetic analysis revealed that various expanded CAG repeat lengths (43-57) and the peak number of repeats (47 and 48) were the same in both patients. CONCLUSIONS: The proband exhibited a typical phenotype of SCA7, which includes cone dystrophy and spinocerebellar ataxia. Genetic analysis demonstrated somatic instability of the CAG repeats in the blood lymphocytes and suggested that there was no genetic anticipation through the maternal transmission.