RESUMO
The retinal features of Bardet-Biedl syndrome (BBS) are insufficiently characterized in Arab populations. This retrospective study investigated the retinal features and genotypes of BBS in Saudi patients managed at a single tertiary eye care center. Data analysis of the identified 46 individuals from 31 families included visual acuity (VA), systemic manifestations, multimodal retinal imaging, electroretinography (ERG), family pedigrees, and genotypes. Patients were classified to have cone-rod, rod-cone, or generalized photoreceptor dystrophy based on the pattern of macular involvement on the retinal imaging. Results showed that nyctalopia and subnormal VA were the most common symptoms with 76% having VA ≤ 20/200 at the last visit (age: 5-35). Systemic features included obesity 91%, polydactyly 56.5%, and severe cognitive impairment 33%. The predominant retinal phenotype was cone-rod dystrophy 75%, 10% had rod-cone dystrophy and 15% had generalized photoreceptor dystrophy. ERGs were undetectable in 95% of patients. Among the 31 probands, 61% had biallelic variants in BBSome complex genes, 32% in chaperonin complex genes, and 6% had biallelic variants in ARL6; including six previously unreported variants. Interfamilial and intrafamilial variabilities were noted, without a clear genotype-phenotype correlation. Most BBS patients had advanced retinopathy and were legally blind by early adulthood, indicating a narrow therapeutic window for rescue strategies.
Assuntos
Síndrome de Bardet-Biedl , Mutação , Humanos , Síndrome de Bardet-Biedl/genética , Masculino , Arábia Saudita/epidemiologia , Feminino , Criança , Adolescente , Adulto , Pré-Escolar , Adulto Jovem , Linhagem , Estudos Retrospectivos , Eletrorretinografia , Fenótipo , Acuidade Visual , Retina/patologia , Fatores de Ribosilação do ADPRESUMO
PURPOSE: To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy. METHODS: Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings. RESULTS: 10 patients (8 females) from three families with homozygous (2) or compound heterozygous (1) variants in LEPREL1 were included. At presentation, mean age was 9.9 ± 2.6 years. Mean axial length was 28.9 ± 1.9 mm and mean refraction was -13.9 ± 2.8 diopters. Bilateral posterior subcapsular cataracts were present in eight patients (80%), with lens subluxation in five eyes of three patients (30%). Rhegmatogenous retinal detachments (RRD), associated with giant retinal tears (GRT), developed in seven eyes of five patients (50%) at a mean age of 14.14 ± 5.9 years. Six were successfully reattached with mean Snellen best-corrected visual acuity improving from 20/120 preoperatively to 20/60 at last follow-up. Urinalysis in nine patients revealed microhematuria and/or mild proteinuria in six patients (67%). CONCLUSION: LEPREL1 -related high myopia confers a high risk of early-onset GRT-related RRD. The ocular phenotype may be confused with that of ocular Stickler syndrome if genetic testing is not performed. Further investigations into a potential association with renal dysfunction are warranted.
Assuntos
Oftalmopatias Hereditárias , Miopia , Descolamento Retiniano , Perfurações Retinianas , Feminino , Humanos , Descolamento Retiniano/cirurgia , Perfurações Retinianas/cirurgia , Estudos Retrospectivos , Miopia/cirurgia , Fenótipo , VitrectomiaRESUMO
BACKGROUND/PURPOSE: To report a case of Stickler Type IV with familial exudative vitreoretinopathy phenotype. METHODS: Retrospective case report. RESULTS: A 24-year-old woman presented with right eye exotropia and decreased vision. She had no facial or typical retinal features of Stickler syndrome but complained of right-sided hearing loss and right-sided neck pain. Examination of the right eye showed a chronic combined exudative and traction retinal detachment with temporal retinal dragging associated with far temporal retinal exudations and fibrovascular proliferations. The left eye had an attached retina with large areas of peripheral temporal retinal nonperfusion on fluorescein angiography, sharply demarcated by end circulation vascular pruning and mild peripheral vascular leakage, consistent with familial exudative vitreoretinopathy phenotype. Genetic analysis identified two heterozygous c.1052C>A and c.1349A>G variants in COL9A1, but did not disclose any mutation in genes classically associated with familial exudative vitreoretinopathy. CONCLUSION: Familial exudative vitreoretinopathy-like retinal vascular features can be the presenting sign in patients with Stickler syndrome Type IV.
Assuntos
Oftalmopatias Hereditárias , Descolamento Retiniano , Doenças Retinianas , Feminino , Humanos , Vitreorretinopatias Exsudativas Familiares , Estudos Retrospectivos , Descolamento Retiniano/diagnóstico , Retina , Angiofluoresceinografia , Doenças Retinianas/diagnóstico , Colágeno Tipo IXRESUMO
Purpose: To report novel life-threatening coronary and systemic arterial disease associated with Retinal Arterial Macroaneurysms with Supravalvular Pulmonic Stenosis (RAMSVPS) syndrome, previously known as Familial Retinal Arterial Macroaneurysms (FRAM). Observations: A 29-years old woman with longstanding poor vision in her right eye presented with acute myocardial infarction and subclavian bruit. Her polyangiogram showed peculiar ostial coronary aneurysms, left anterior descending coronary artery stenosis, occlusion of the left subclavian artery, stenosis of both renal arteries, irregularities in the mesenteric artery and tapering of the aorta. Takayasu arteritis was initially presumed, however fundus examination revealed beading and macroaneurysms along major retinal arteries, intraretinal exudation and hemorrhages, retinal arterial sheathing and stenosis, Coats'-like features and submacular gliosis in the right eye, vitreous hemorrhage in the left eye, and persistent hyaloid artery remnant in both eyes. These features evoked RAMSVPS syndrome. Genetic testing identified the same homozygous IGFBP7 c.830-1G > A mutation reported with RAMSVPS syndrome, rectifying the systemic diagnosis. Conclusion and importance: RAMSVPS syndrome can be associated with more life-threatening coronary and widespread major arterial disease than previously recognized. It is crucial for ophthalmologists to recognize RAMSVPS syndrome and refer patients for a thorough cardiovascular evaluation. Likewise, a careful retinal examination and the possibility of an IGFBP7 mutation should be considered in the setting of systemic arterial or cardiac disease.
RESUMO
Purpose: This work aims to assess the value of intravitreal triamcinolone acetonide (IVTA) as an adjunctive therapy in advanced Coats disease with exudative retinal detachment (ERD). Methods: A retrospective review was conducted of patients with Coats disease stage 3 or higher who received IVTA to decrease subretinal fluid (SRF), facilitate retinal ablative therapy, and avoid surgical drainage. Primary outcomes were SRF resolution and avoidance of surgical SRF drainage. Results: Seventeen eyes of 17 patients (mean, [SD] age, 3.9 [3.4] years) met the inclusion criteria. ERD configuration was bullous in 7 and shallow in 10 eyes. Following a single IVTA injection, ablative therapy was achieved after a mean (SD) of 2.1 (3.0) weeks. Complete SRF resolution was observed in 13 eyes (76.4%) after a mean of 1.3 IVTA injections and a mean of 2 (SD, 1.27) laser sessions, and none of these eyes required SRF drainage up to last follow-up (mean [SD], 50.5 [26.24] months). In 4 eyes with bullous ERD at presentation, SRF persisted (P = .015) despite additional measures including surgical drainage. Final visual acuity ranged from 20/100 to no light perception. Cataract developed in 12 of the 17 eyes (70.5%). None developed an increase in intraocular pressure at final follow-up. Conclusions: IVTA injection can be a helpful adjunctive modality to address SRF in advanced Coats disease. It may obviate the need to surgically drain SRF to effectively treat the condition, particularly when the ERD is not highly bullous.
RESUMO
PURPOSE: To highlight recognizable patterns of subretinal fibrosis in enhanced S-cone syndrome (ESCS). DESIGN: Retrospective case series. PARTICIPANTS: Forty-seven patients with subretinal fibrosis identified from 101 patients with clinically diagnosed ESCS, confirmed by full-field electroretinography (35/47), genetic testing (34/47), or both. METHODS: Multimodal retinal imaging, electroretinography, and genetic analysis. MAIN OUTCOME MEASURES: Patterns of subretinal fibrosis with angiographic, OCT, and genetic correlations. RESULTS: Eighty-five eyes of 47 patients (24 male patients; 36 unrelated consanguineous families) had subretinal fibrosis. Mean age at presentation was 14 years. Best-corrected visual acuity ranged from 20/20 to hand movements. All 34 genetically tested patients were homozygous for pathogenic NR2E3 variants. Subretinal fibrosis was always in the macular area, although it extended beyond in some patients. Six recurrent patterns of submacular fibrosis were noted: central unifocal nodular, circumferential unifocal nodular, multifocal nodular, arcuate, helicoid, and thick geographic. Some patients showed a combination of patterns. Previous misdiagnosis as inflammatory disease was common. Fibrosis was fairly symmetrical in a given patient but not always present or identical in other affected individuals with a given homozygous mutation from the same or other families. CONCLUSIONS: These recognizable patterns of submacular fibrosis are part of the ESCS phenotypic spectrum and strongly suggest the disease. In addition to facilitating diagnosis, recognition of these patterns can spare patients unnecessary workup for an inflammatory cause.
Assuntos
Oftalmopatias Hereditárias/complicações , Macula Lutea/diagnóstico por imagem , Degeneração Retiniana/complicações , Transtornos da Visão/complicações , Adolescente , Adulto , Criança , Pré-Escolar , Eletrorretinografia , Oftalmopatias Hereditárias/diagnóstico , Feminino , Fibrose/diagnóstico , Fibrose/etiologia , Angiofluoresceinografia/métodos , Fundo de Olho , Humanos , Lactente , Masculino , Degeneração Retiniana/diagnóstico , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Transtornos da Visão/diagnóstico , Adulto JovemRESUMO
Background: Coats-like retinal vasculopathy in retinitis pigmentosa (RP) is rare. This study describes its clinical spectrum, management outcomes and genetic associations in patients with autosomal recessive RP (arRP).Materials and methods: Retrospective review of ophthalmic, multimodal imaging, genetic findings and treatment outcomes of arRP patients who developed Coats-like features. Identification of patients included searching a retinal dystrophy registry of 798 patients.Results: Ten eyes of six patients with arRP (4 males, 2 females, mean age 33 years) demonstrated Coats-like features, namely inferotemporal peripheral retinal telangiectasis combined with unilateral inferotemporal vasoproliferative tumor (VPT) in 4 eyes. Exudative retinal detachment (ERD) developed in five eyes of which four had VPT. Ablation of the vasculopathy using retinal laser photocoagulation and/or cryotherapy in eight eyes, allowed ERD and/or lipid exudation to decrease in seven eyes despite incomplete vasculopathy regression. Additional intravitreal triamcinolone acetonide injection in one eye failed to regress the ERD and associated VPT. Observation in one eye caused increased exudation. Six mutations, including three novel mutations, were found in CRB1, CNGB1, RPGR, and TULP1.Conclusions: Coats-like features in arRP range from retinal telangiectasis to VPTs with extensive ERD and occur predominantly in the inferotemporal retinal periphery. In addition to their classic association with CRB1 mutations, other genes are implicated. To the best of our knowledge, this is the first report describing CNGB1 mutations in Coats-like RP. Awareness of the vasculopathy spectrum is important, and timely ablation of the vasculopathy with long-term monitoring is recommended to prevent additional visual loss in RP patients.
Assuntos
Crioterapia/métodos , Proteínas do Olho/genética , Fotocoagulação a Laser/métodos , Descolamento Retiniano/cirurgia , Vasculite Retiniana/cirurgia , Retinose Pigmentar/complicações , Doenças Vasculares/cirurgia , Adulto , Exsudatos e Transudatos , Feminino , Genes Recessivos , Humanos , Masculino , Mutação , Descolamento Retiniano/patologia , Vasculite Retiniana/etiologia , Vasculite Retiniana/patologia , Estudos Retrospectivos , Doenças Vasculares/etiologia , Doenças Vasculares/patologiaRESUMO
We present two cases of a novel missense variant mutation in the DHX38 gene, which is associated with autosomal recessive retinitis pigmentosa (RP) in two Saudi sisters who presented with poor visual acuity since childhood. On initial examination, the best-corrected visual acuity was 20/300 in both eyes for the two sisters. Fundus examination revealed widespread retinal pigmentary changes, linear peripheral hyperpigmentation clumps, bone spicules, and bilateral optic nerve drusen with bilateral macular hyperpigmentation. Spectral-domain optical coherence tomography scans reveal losses of the outer retinal layer and the presence of subretinal fibrosis and thinning of the choroid. Molecular sequencing analysis of the DHX38 exome identified a novel missense mutation of the homozygous variant c. 2571 (p. Ala857=), which co-segregates with the autosomal recessive RP gene that encodes the premRNA splicing factor, PRP16. The aim of this report is to describe the clinical feature associated with this variant and to provide additional evidence that DHX38 is involved in RP. To the best of our knowledge, this variant has not been described in the literature.
Assuntos
Hiperpigmentação , Retinose Pigmentar , Criança , RNA Helicases DEAD-box/genética , Humanos , Mutação de Sentido Incorreto , Linhagem , Fatores de Processamento de RNA/genética , Retina , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/genética , Arábia Saudita/epidemiologia , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: To describe the stages of development and natural course of a full-thickness macular hole (FTMH) in a patient with enhanced S-cone syndrome (ESCS). METHODS: This study reported the serial ophthalmologic examinations and macular spectral-domain optical coherence tomography (SD-OCT) imaging over a period of 6 years in a 29-year-old man with ESCS confirmed by electroretinography (ERG) and NR2E3 molecular genetic analysis. RESULTS: At presentation, patient had night blindness and visual acuity (VA) of 20/300 in the right eye (OD) and 20/100 in the left eye (OS). Examination showed bilateral retinal midperipheral pigmentary deposits and a macular schisis in OD. Electroretinography and NR2E3 genetic analysis confirmed ESCS. A year later, a lamellar MH (LMH) appeared at the fovea in OD. SD-OCT confirmed it as inner retinal layer LMH with outer retinal preservation and displayed, on the temporal side of the LMH, prominent splitting between the inner and outer retinal layers. At 2 years, a focal defect in the ellipsoid zone appeared on SD-OCT, followed by split in the outer retinal layer creating a progressively expanding outer LMH. The latter had rolled edges which then fused with the inner LMH margins creating a single full-thickness FTMH. Over the next 4 years, enlargement of the FTMH with increased adjacent retinal splitting continued. No visible vitreous abnormalities or vitreoretinal traction forces were identified at any stage during follow-up. VA OD remained unchanged. CONCLUSION: This case illustrates that the clinical evolution of FTMH in ESCS may be progressive and likely involves degeneration and intraretinal, rather than vitreoretinal, traction. This should be kept in mind when considering surgical intervention in these cases.
Assuntos
Oftalmopatias Hereditárias , Perfurações Retinianas , Eletrorretinografia , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética , Fóvea Central , Humanos , Masculino , Degeneração Retiniana , Perfurações Retinianas/diagnóstico , Estudos Retrospectivos , Tomografia de Coerência Óptica , Transtornos da VisãoRESUMO
Background: Gyrate atrophy of the choroid and retina (GA) is a rare autosomal recessive disorder characterized by nyctalopia, myopia, sharply demarcated expanding peripheral chorioretinal atrophic lesions, early cataract, progressive visual loss and hyperornithinemia. Only three cases of GA associated with rhegmatogenous retinal detachments (RRD) have been reported. The genotype-phenotype correlation of RRD in GA is limited by lack of genetic information in the previously reported cases. Here we report two young sisters with a characteristic GA phenotype associated with a novel variant in the ornithine aminotransferase gene (OAT), in whom one developed unilateral RRD at the age of 9 years.Materials and Methods: Retrospective report of two cases including genetic analysis and multimodal retinal imaging.Results: A 9-year-old Saudi girl presented with a funnel-shaped RRD, extensive proliferative vitreoretinopathy, peripheral choroidal detachment and neovascular glaucoma in her right eye. Fundus examination of her left eye showed an attached retina with sharply-demarcated peripheral chorioretinal atrophic patches suggestive of GA. Whole exome sequencing confirmed GA by revealing a homozygous c.980 C > G (p. Pro327Arg) variant in exon 8 of OAT. The RRD was inoperable. The chorioretinal lesions in the left eye enlarged slowly over 3 years of follow up. Examination of the proband's older sister revealed a similar but more advanced GA phenotype in both eyes.Conclusions: A characteristic GA phenotype associated with a novel variant in OAT is reported. This variant might be associated with childhood-onset RRD in the proband.
Assuntos
Atrofia Girata/patologia , Mutação , Ornitina-Oxo-Ácido Transaminase/genética , Fenótipo , Descolamento Retiniano/patologia , Adolescente , Criança , Feminino , Atrofia Girata/complicações , Atrofia Girata/genética , Humanos , Prognóstico , Descolamento Retiniano/complicações , Descolamento Retiniano/genética , Estudos RetrospectivosRESUMO
OBJECTIVE: We examined the incidence and natural history of macular retinochoroidal neovascularization (RCN) in enhanced S-cone syndrome (ESCS). DESIGN: Retrospective case series. METHODS: This single-center study included 14 of 93 patients with ESCS who had signs of active or inactive RCN in ≥1 eye. We conducted multimodal retinal imaging, full-field electroretinography, and molecular genetic analysis of NR2E3 gene. Our main outcome measures included the cumulative incidence of RCN in ESCS, type of RCN, and mode of evolution of RCN. RESULTS: Fourteen (15.1%) of 93 patients with ESCS had RCN in ≥1 eye at 2 to 27 years of age. All 22 RCNs (21 eyes of 14 patients) were macular. Twelve of the RCNs were active with exudates/hemorrhages. Of these, 5 appeared de novo in a subretinal location, with photographic evidence of no pre-existing lesions. The latter were compatible with type 3 neovascularization or retinal angiomatous proliferation and subsequently evolved into unifocal fibrotic nodules. The remaining active lesions all had some degree of pre-existing fibrosis and remained stable. Ten inactive fibrotic nodules, identical to end-stage de novo lesions, were found and were presumed to represent healed RCNs. CONCLUSIONS: RCN, a treatable condition, may occur as early as 2 years of age and may be much more common in patients with ESCS than previously estimated. It may be the primary cause of the unifocal submacular fibrosis that is commonly observed in this condition. Additional research is needed to establish the pathogenesis of RCN in patients with ESCS and its optimal management.
Assuntos
Neovascularização de Coroide/epidemiologia , Oftalmopatias Hereditárias/complicações , Células Fotorreceptoras Retinianas Cones/patologia , Degeneração Retiniana/complicações , Neovascularização Retiniana/epidemiologia , Tomografia de Coerência Óptica/métodos , Transtornos da Visão/complicações , Acuidade Visual , Campos Visuais/fisiologia , Adolescente , Adulto , Criança , Pré-Escolar , Neovascularização de Coroide/diagnóstico , Neovascularização de Coroide/etiologia , Eletrorretinografia , Oftalmopatias Hereditárias/diagnóstico , Feminino , Humanos , Incidência , Lactente , Masculino , Degeneração Retiniana/diagnóstico , Neovascularização Retiniana/diagnóstico , Neovascularização Retiniana/etiologia , Estudos Retrospectivos , Arábia Saudita/epidemiologia , Transtornos da Visão/diagnóstico , Adulto JovemRESUMO
PURPOSE: Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly. METHODS: Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes. RESULTS: In this study, we describe 125 families with ciliopathies and show that deleterious variants in previously reported genes, including cryptic splicing variants, account for 87% of cases. Additionally, we further support a number of previously reported candidate genes (BBIP1, MAPKBP1, PDE6D, and WDPCP), and propose nine novel candidate genes (CCDC67, CCDC96, CCDC172, CEP295, FAM166B, LRRC34, TMEM17, TTC6, and TTC23), three of which (LRRC34, TTC6, and TTC23) are supported by functional assays that we performed on available patient-derived fibroblasts. From a phenotypic perspective, we expand the phenomenon of allelism that characterizes ciliopathies by describing novel associations including WDR19-related Stargardt disease and SCLT1- and CEP164-related Bardet-Biedl syndrome. CONCLUSION: In this cohort of phenotypically and molecularly characterized ciliopathies, we draw important lessons that inform the clinical management and the diagnostics of this class of disorders as well as their basic biology.
Assuntos
Síndrome de Bardet-Biedl , Ciliopatias , Alelos , Síndrome de Bardet-Biedl/genética , Cílios/genética , Ciliopatias/genética , Humanos , Canais de SódioRESUMO
PURPOSE: To describe a specific cone-rod dystrophy phenotype in a family with the homozygous c.1429G>A; p.Gly477Arg mutation in CRB1. The detailed phenotype of subjects with this specific mutation has not been described previously. METHODS: Clinical examination included full-field electroretinography and high-resolution and widefield retinal imaging and uveitis workup. Molecular genetic analysis included next-generation sequencing of known retinal dystrophy genes and Sanger sequencing for segregation analysis. RESULTS: Three affected male siblings (26, 16, and 8 years old) were diagnosed with cone-rod dystrophy, featuring bilateral macular hypoautofluorescent lesions. In addition, the eldest brother was found to have retinal vascular leakage throughout the retina without telangiectasia. Uveitis laboratory workup was unremarkable. The homozygous c.1429G>A; p.Gly477Arg mutation in CRB1 was found to segregate with disease in this family. CONCLUSION: To the best of our knowledge, diffuse vascular leakage without telangiectasia or exudation, with bull's eye maculopathy, has not been reported previously in CRB1-cone rod dystrophy. This expands the phenotype complexity associated with CRB1 mutations and confirms that dystrophies associated with mutations in this gene may appear with features of uveitis.
Assuntos
Distrofias de Cones e Bastonetes/genética , DNA/genética , Proteínas do Olho/genética , Homozigoto , Proteínas de Membrana/genética , Mutação de Sentido Incorreto , Proteínas do Tecido Nervoso/genética , Retina/patologia , Adolescente , Adulto , Criança , Distrofias de Cones e Bastonetes/diagnóstico , Distrofias de Cones e Bastonetes/metabolismo , Análise Mutacional de DNA , Proteínas do Olho/metabolismo , Seguimentos , Humanos , Masculino , Proteínas de Membrana/metabolismo , Proteínas do Tecido Nervoso/metabolismo , Linhagem , Fenótipo , Retina/metabolismo , Estudos Retrospectivos , Tomografia de Coerência ÓpticaRESUMO
Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and systemic evaluation of patients homozygous for RAMSVPS syndrome causative IGFBP7 variant. New clinical details on 22 previously published and 8 previously unpublished patients are described. Age at first presentation ranged from 1 to 34 years. The classical feature of macroaneurysms and vascular beading involving the retinal arteries was universal. Follow up extending up to 14 years after initial diagnosis revealed recurrent episodes of bleeding and leakage from macroaneurysms in 55% and 59% of patients, respectively. The majority of patients who underwent echocardiography (18/23) showed evidence of heart involvement, most characteristically pulmonary (valvular or supravalvular) stenosis, often requiring surgical correction (12/18). Four patients died in the course of the study from complications of pulmonary stenosis, cerebral hemorrhage, and cardiac complications. Liver involvement (usually cirrhosis) was observed in eight patients. Cerebral vascular involvement was observed in one patient, and stroke was observed in two. We conclude that RAMSVPS is a recognizable syndrome characterized by a high burden of ocular and systemic morbidity, and risk of premature death. Recommendations are proposed for early detection and management of these complications.
Assuntos
Predisposição Genética para Doença , Proteínas de Ligação a Fator de Crescimento Semelhante a Insulina/genética , Estenose da Valva Pulmonar/genética , Macroaneurisma Arterial Retiniano/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Angiofluoresceinografia , Fundo de Olho , Homozigoto , Humanos , Lactente , Masculino , Estenose da Valva Pulmonar/complicações , Estenose da Valva Pulmonar/diagnóstico por imagem , Estenose da Valva Pulmonar/patologia , Macroaneurisma Arterial Retiniano/complicações , Macroaneurisma Arterial Retiniano/diagnóstico por imagem , Macroaneurisma Arterial Retiniano/patologia , Artéria Retiniana/diagnóstico por imagem , Artéria Retiniana/metabolismo , Artéria Retiniana/patologia , Acuidade Visual/genética , Acuidade Visual/fisiologia , Adulto JovemRESUMO
PURPOSE: To describe a new form of childhood-onset rhegmatogenous retinal detachment (RRD) in autosomal recessive high myopia associated with mutations in LRPAP1. DESIGN: Retrospective cohort study. PARTICIPANTS: A total of 12 children (24 eyes) with recessive LRPAP1 mutations and associated high myopia. METHODS: Serial ophthalmological examination and retinal imaging during 4.6±1.9 (mean ± standard deviation) years. Retinal interventions included prophylactic laser and surgical retinal repair. MAIN OUTCOME MEASURES: Incidence and recurrence rate of RRD and retinal break formation. Association between LRPAP1 genotypes and RRD characteristics. RESULTS: Some 42% of children (5 children [6 eyes]) developed RRD at the age of 10.43±0.97 years. Four of the children who developed RRD were male (80%), and 1 was female (20%). Visual acuity was significantly reduced in eyes with RRD at presentation and at the most recent visit compared with eyes with no RRD (P < 0.001 for both). Two eyes had inoperable RRD. Four eyes for which primary retinal repair was done had redetachment (100% of operated eyes) due to variable degrees of proliferative vitreoretinopathy (PVR). Reattachment after surgical repair, which was maintained at least during 6 months of follow-up, was achieved in 3 eyes (75%), with final visual acuities of 20/300 in 2 eyes and 20/400 in 1 eye. CONCLUSIONS: This is the first description of a nonsyndromic, high myopia-related, recessive RRD without any signs of vitreoretinal degeneration. Recessive LRPAP1 gene mutations confer a high risk of childhood-onset RRD and PVR. Proliferative vitreoretinopathy in turn increases the risk of recurrent RRD and may lead to blindness. Recognizing the LRPAP1-related high myopia phenotype is important, and early childhood examination with additional close follow-up and prophylactic retinal laser should be considered.
Assuntos
DNA/genética , Proteína Associada a Proteínas Relacionadas a Receptor de LDL/genética , Mutação , Miopia/complicações , Descolamento Retiniano/genética , Acuidade Visual , Adolescente , Criança , Análise Mutacional de DNA , Feminino , Seguimentos , Humanos , Proteína Associada a Proteínas Relacionadas a Receptor de LDL/metabolismo , Masculino , Miopia/genética , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Estudos Retrospectivos , Adulto JovemRESUMO
The presence of retinal capillary hemangioblastoma and cerebellar hemangioblastoma in the context of Von Hippel-Lindau syndrome (VHL) is not characteristically associated with other ophthalmologic conditions. Here, we report the case of a 22-yearold female with a history of bilateral primary congenital glaucoma who presented with a right juxtapapillary retinal capillary hemangioblastoma and an old hemiretinal vein occlusion in which the retinal capillary hemangioblastoma was likely the contributing factor. Her systemic work up was positive for VHL syndrome and revealed the presence of a fatal large brainstem hemangioblastoma. To our knowledge, the association of VHL and congenital glaucoma and/or retinal venous occlusion has not been reported.
RESUMO
PURPOSE: To report novel retinal findings in Kearns-Sayre syndrome and correlate degree of retinopathy with other clinical findings. METHODS: Observational case series of patients from Saudi Arabia with retinal and neuroophthalmologic examinations, medical chart review, and mitochondrial genetic evaluation. RESULTS: The three unrelated patients had progressive external ophthalmoplegia and pigmentary retinopathy bilaterally. Muscle biopsy in two of the cases revealed mitochondrial myopathy. All three had abnormal findings on neuroimaging and modestly reduced visual acuity in both eyes with a variable pigmentary retinopathy. One of the patients had bilateral subretinal fibrosis with a full-thickness macular hole in the right eye. All three patients had single, large-scale mitochondrial DNA (mtDNA) deletions (5.0-7.6 kb in size) with blood mtDNA heteroplasmy levels ranging from below 20% to 57%. Severity of pigmentary retinopathy did not correlate with severity of progressive external ophthalmoplegia, but did correspond grossly with electroretinographic abnormalities, just as the degree of ocular motility restriction and ptosis in each patient correlated with the size of their extraocular muscles on neuroimaging. In addition, the size of the single, large-scale mtDNA deletion and level of mtDNA heteroplasmy corresponded with degree of ocular motility restriction but not with severity of retinopathy. CONCLUSION: Subretinal fibrosis and macular hole are novel retinal observations which expand clinical profile in Kearns-Sayre syndrome. Genetic testing for mtDNA deletions and heteroplasmy in blood, muscle biopsy, careful ocular and retinal examination including electroretinography, and imaging are indispensable tests for this condition.
Assuntos
Síndrome de Kearns-Sayre/patologia , Doenças Retinianas/patologia , Adolescente , Criança , Eletrorretinografia , Feminino , Humanos , Síndrome de Kearns-Sayre/fisiopatologia , Masculino , Doenças Retinianas/fisiopatologia , Perfurações Retinianas/patologia , Retinose Pigmentar/patologiaRESUMO
BACKGROUND/PURPOSE: To report characteristics and treatment outcome of choroidal neovascularization (CNV) secondary to laser photocoagulation and photodynamic therapy (PDT) in central serous chorioretinopathy. METHODS: Retrospective analysis of 12 eyes of 12 patients, who were diagnosed to have CNV secondary to laser photocoagulation or PDT for central serous chorioretinopathy. Collected data included demographic details, history of presenting illness, clinical examination details including visual acuity at presentation, and follow-up with imaging and treatment details. Main outcome measures were resolution of CNV activity at the last follow-up. Secondary outcomes included change in visual acuity at final follow-up from baseline, number of injections, treatment-free interval, and adverse events. RESULTS: This study included 12 eyes of CNV secondary to laser photocoagulation (8 eyes) and PDT (4 eyes). Mean age of study subjects was 47.6 ± 15.4 years (range 33-82) with 8 men and 4 women. Mean interval between laser photocoagulation/PDT and diagnosis of CNV was 23.9 ± 54.5 months. All subjects had unilateral CNV with classic CNV on fluorescein angiography. Eight eyes had extrafoveal CNV, and four eyes had juxtafoveal CNV. Baseline best-corrected visual acuity was 0.56 ± 0.51 (Snellen equivalent 20/60) logMAR, and final best-corrected visual acuity was 0.53 ± 0.51 (Snellen equivalent 20/60) logMAR with no significant difference (P = 0.84). All four eyes that presented with the CNV secondary to PDT group required additional PDT treatment because of poor response to antivascular endothelial growth factor therapy. At the last follow-up, only one patient in the laser group had active CNV; the remaining patients of both groups had scarred CNV. Mean follow-up duration was 22.4 ± 23.1 months. Mean number of injections was 3.16 ± 2.62. Longest treatment-free interval was 8.29 ± 11.4 months. CONCLUSION: Antivascular endothelial growth factor therapy appears to be safe and efficacious in CNVs secondary to laser photocoagulation and PDT. Choroidal neovascularizations secondary to PDT appear to be more resistant to antivascular endothelial growth factor therapy than those because of laser photocoagulation and required additional PDT.