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PURPOSE: To analyze the relationship between a focal increase of choroidal thickness (ChT) and exudative activity of macular neovascularization (MNV) secondary to pathologic myopia. METHODS: Retrospective analysis including eyes with pathologic myopia presenting with a focally increased ChT underneath active MNV. All patients included were treated, and ChT was measured before and after each intravitreal injection by two experienced ophthalmologists. RESULTS: Fifty-two eyes of 52 patients with myopic MNV (19 men and 33 women) were included in this analysis. ChT at T-1 averaged 51.09 ± 33.56 µ m, whereas at the time of MNV activation (T0), ChT was significantly thicker: 85.11 ± 43.99 µ m ( P < 0.001). After a single intravitreal injection, the ChT significantly decreased to 53.23 ± 34.15 µ m ( P < 0.001). CONCLUSION: This study showed that focal ChT variations may be considered an interesting corollary sign of MNV in high myopic patients, indicating the activity of myopic neovascularization.
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Neovascularización Coroidal , Miopía , Masculino , Humanos , Femenino , Neovascularización Coroidal/etiología , Neovascularización Coroidal/complicaciones , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Miopía/complicaciones , Miopía/diagnóstico , Miopía/patología , Hemodinámica , Angiografía con FluoresceínaRESUMEN
SIGNIFICANCE: Lipemia retinalis is a very rare ocular manifestation of severe hypertriglyceridemia. It is usually symptomatic and regresses after normalization of triglycerides levels. Early recognition is important to prevent ocular and life-threatening complications. PURPOSE: This study aimed to report a case of marked lipemia retinalis secondary to type V hypertriglyceridemia assessed with swept-source optical coherence tomography (OCT) and OCT angiography (OCT-A), with follow-up after dietary lipid restriction. METHODS: Observational case report of lipemia retinal findings on color fundus photography, swept-source OCT and OCT-A, initially and after triglycerides lowering. CASE REPORT: A 32-year-old pregnant patient with gestational diabetes and a history of hypertriglyceridemia was referred for diabetic retinopathy screening. Fundus examination revealed bilateral milky-white discoloration of retinal vessels with a "salmon-colored" retina. Swept-source OCT and OCT-A revealed extremely hyperreflective and dilated retinal vessels and multiple high-flow retinal hyperreflective dots, corresponding to dilated retinal capillaries. Choroidal vessels were enlarged and engorged, and choriocapillaris layer appeared thickened and hyperreflective with dilated and tortuous capillaries. Serum triglycerides were very high (70.02 mmol/L). After 21 days of very-low-fat diet, it was lowered to 15 mmol/L. We noted a normalization of the clinical, structural, and vascular findings. However, peripheral retinal vessels remained hyperreflective, despite their clinical normalization. CONCLUSIONS: Swept-source OCT and OCT-A were beneficial in assessing lipemia retinalis noninvasively and monitoring choroidal and retinal vascular changes. Lipemia retinalis signs regressed initially in the posterior pole, choroidal anomalies were first to resolve, and clinical normalization preceded tomographic resolution.
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Hiperlipidemias , Hipertrigliceridemia , Enfermedades de la Retina , Adulto , Angiografía/efectos adversos , Femenino , Angiografía con Fluoresceína , Humanos , Hiperlipidemias/complicaciones , Hipertrigliceridemia/complicaciones , Embarazo , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/etiología , Vasos Retinianos , Tomografía de Coherencia Óptica/métodos , TriglicéridosRESUMEN
PURPOSE: Our aim was to highlight the presence and the frequency of posterior staphyloma (PS) in non-highly myopic retinitis pigmentosa (RP) patients and to study the relationship between PS and choroidal thickness (CT). METHODS: This was a retrospective case-control study of 77 eyes (39 patients) with RP, axial length inferior to 26 mm and clinically preserved macular area. All patients underwent fundus photography, A- and B-scan ocular ultrasonography, fundus autofluorescence (FAF) and swept source optical coherence tomography (SS-OCT). PS was defined by an outward bowing of the sclera on SS-OCT and B-scans. The relationship between the PS and SS-OCT layers thicknesses was determined. RESULTS: Over 77 RP eyes of 39 patients studied, a PS was identified in 17 eyes (22%) of nine patients. Fifteen eyes had a narrow macular staphyloma (NMS), and two eyes had a wide macular staphyloma (WMS). Mean age in this group was 34.2 years (range 19-53 years), mean axial length was 23.60 ± 0.61 mm and mean CT was 185.7 ± 71 um versus 259.7 um in eyes without PS. The staphyloma edges corresponded to area of outer retina loss on SS-OCT and were larger than the hyperautofluorescent ring on FAF. We found a significant association between PS and CT in our RP patients (p = 0.003). The mean CT was significantly thinner in PS eyes compared to eyes without staphyloma. There was no significant association between PS and with visual acuity, years of progression, retinal thickness nor FAF findings. CONCLUSIONS: PS was present in 22% of non-highly myopic eyes with RP. Narrow macular staphyloma was the most common type observed in our series. A marked thinning of the choroid was noted in PS eyes when compared to RP eyes without PS, as well as the outer retina degeneration.
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Miopía Degenerativa , Retinitis Pigmentosa , Enfermedades de la Esclerótica , Adulto , Estudios de Casos y Controles , Humanos , Persona de Mediana Edad , Miopía Degenerativa/complicaciones , Miopía Degenerativa/diagnóstico , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/diagnóstico , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Adulto JovenRESUMEN
Purpose To explore the association between the polymorphism (S/F) p.R102G in the complement component 3 (C3) gene and age-related macular degeneration (AMD) in a Tunisian population. Methods The molecular study was performed by polymerase chain reaction using sequence-specific primers (PCR-SSP) in 207 control subjects free of any eye disease (fundus normal) and 145 patients with exudative AMD. The CH50 activity and quantification of C3 and C4 have been made by technical home method and nephelometry, respectively. Results The prevalence of C3 GG genotype polymorphism was significantly higher in AMD patients compared to controls (OR: 2.41, IC 95% [1.90-3.05], p = 0.0007). However, no correlation was found between this allelic variant and the type of neovascularization. Similarly, there is no association between this polymorphism and the presence of functional and/or quantitative hypocomplementemia. Conclusions The C3 GG genotype of the gene could be a susceptibility factor for AMD in the Tunisian population. However, it does not seem to influence the clinical profile of the disease.
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Complemento C3/genética , Predisposición Genética a la Enfermedad/epidemiología , Predisposición Genética a la Enfermedad/genética , Degeneración Macular/epidemiología , Degeneración Macular/genética , Polimorfismo de Nucleótido Simple/genética , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Asociación Genética , Marcadores Genéticos/genética , Humanos , Incidencia , Degeneración Macular/diagnóstico , Masculino , Persona de Mediana Edad , Mutación/genética , Reproducibilidad de los Resultados , Medición de Riesgo/métodos , Sensibilidad y Especificidad , Túnez/epidemiologíaRESUMEN
OBJECTIVES: Consanguinity is common in Tunisia. However, little information exists on its impact on recessive disorders. In this study, we evaluate the impact of consanguineous marriages on the occurrence of some specific autosomal recessive disorders and consider how other factors, such as population substructure and mutation frequency, may be of equal importance in disease prevalence. METHODS: Consanguinity profiles were retrospectively studied among 425 Tunisian patients suffering from autosomal recessive xeroderma pigmentosum, dystrophic epidermolysis bullosa, nonsyndromic retinitis pigmentosa, Gaucher disease, Fanconi anemia, glycogenosis type I, and ichthyosis, and compared to those of a healthy control sample. RESULTS: Consanguinity was observed in 341 cases (64.94%). Consanguinity rates per disease were 75.63, 63.64, 60.64, 61.29, 57.89, 73.33, and 51.28%, respectively. First-cousin marriages were the most common form of consanguinity (48.94%) with the percentages of 55.46, 45.46, 47.87, 48.39, 45.61, 56.66, and 35.90%, respectively. A very high level of geographic endogamy was also observed (93.92%), with the values by disease ranging between 75.86 and 96.64%. We observed an overall excess risk associated to consanguinity of nearly sevenfold which was proportional to the number of affected siblings and the frequency of disease allele in the family. Consanguinity was significantly associated with the first five cited diseases (odds ratio = 24.41, 15.17, 7.5, 5.53, and 5.07, respectively). However, no meaningful effects were reported among the remaining diseases. CONCLUSIONS: This study reveals a variation in the excess risk linked to consanguinity according to the type of disorder, suggesting the potential of cryptic population substructure to contribute to disease incidence in populations with complex social structure like Tunisia. It also emphasizes the role of other health and demographic aspects such as mutation frequency and reproductive replacement in diseases etiology.
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Frecuencia de los Genes , Genes Recesivos , Predisposición Genética a la Enfermedad/genética , Adolescente , Adulto , Anciano , Alelos , Niño , Preescolar , Consanguinidad , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Prevalencia , Túnez/epidemiología , Adulto JovenRESUMEN
BACKGROUND: Chronic corneal ulcers still pose etiological and therapeutic challenge. They are serious complications and often associated with poor functional prognosis. AIM: We report the case of a patient with bilateral and chronic corneal ulcer revealing a rare familial form of bilateral agenesis of the lacrimal gland. CASES REPORT: A 39-year-old man was referred to our department for bilateralchronic and sterile ulcer. The tear break-up time was less than one second and the schirmer test detected no wetting in 5 minutes. He mentioned that lacrimation had been totally absent even when crying as was the case of his brother and his sister. Orbital echography showed absence of lacrimal gland. Orbital magnetic resonance imaging revealed absence of both lacrimal glands. Our patients were treated with permanent topical artificial tears. We performed also permanent occlusion of lower lachrymal poncti to preserve basic tear flow. CONCLUSION: Congenital lacrimal gland agenesis is rare. We report, to ourknowledge, the first case of Tunisian family with three patients suffering from bilateral lacrimal gland agenesis and the first documented familiarly cases diagnosed in adulthood.
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Anomalías del Ojo/genética , Aparato Lagrimal/anomalías , Adulto , Úlcera de la Córnea/etiología , Femenino , Humanos , MasculinoRESUMEN
BACKGROUND: Uncorrected refractive error has recently been identified as the leading cause of visual impairment in children worldwide. The prevalence of myopia is increasing. Determination of the epidemiology of myopia is important to develop screening strategy. PURPOSE: to estimate the prevalence and the degree of severity of myopia among primary schoolchildren in Tunisia and to assess its effect on school performance. METHODS: A random cluster design was used to recruit children from primary schools across urban and rural settings in Tunisia, during 2009 to 2012. A total of 6192 students aged 6 to 14 years old were enrolled. Students with visual acuity of 9/10 or worse underwent a complete ophthalmic examination, and cycloplegic autorefraction was used to determine refractive error. Myopia was defined as a spherical equivalent (SE) of - 0.50 dioptre (D) or worse. We also searched for a possible relation between uncorrected myopia and academic failure. RESULTS: The prevalence of myopia was 3.71%. Mean and SD of spherical equivalent was -3,10 ± 0,86 D. The myopia rate increased significantly with age (p=0.04), but was not significantly related to gender (p=0.823). There was no significant association between the student's area of residence and myopia (p=0.932). 85.21% of myopic students experienced unsatisfactory academic performances. CONCLUSION: The present study reveals the prevalence of myopia among schoolchildren in Tunisia. The high rate of academic failure in myopic schoolchildren emphasizes an unmet need for its screening and its correction.
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Miopía/epidemiología , Adolescente , Niño , Estudios Transversales , Escolaridad , Femenino , Humanos , Masculino , Prevalencia , Índice de Severidad de la Enfermedad , Túnez/epidemiologíaRESUMEN
Background Maculopathy is a common complication of retinitis pigmentosa (RP), and compromise the visual acuity of RP patients even in the less advanced stages. Aim To report the morphological macular findings detected by spectral domain optical coherence tomography (SD-OCT) and to determine their prevalence in patients with retinitis pigmentosa (RP). Methods SD-OCT scans from 100 patients (196 eyes) affected by RP were reviewed. Results We noted a normal macula appearance in 48.5%, macular edema in 14.5% and macular atrophy in 37%. Mean central macular thickness was 167.79 microns and we did not note any statistically significant correlation between visual acuity and foveal thickness. Visual acuity was statistically better in eyes with a larger number of hyper-reflective layers (p<0.001) and in eyes with photoreceptor inner/outer (IS/OS) segment junction distinct (p<0.001). We have identified three types of tomographic macular edema: a cystoids macular edema in 6.8%, a tractional edema in 8.2% and mixed edema in 1%. We identified two tomographic types of macular atrophy: a central- foveal atrophy in 34 eyes (11.6%) and diffuse atrophy in 38 eyes (12.9%). Epiretinal membrane was present in 24 eyes (8.2%). Conclusions The OCT contributes to the analysis of epidemiological and morphological of different macular involvement in RP. OCT has a prognostic value, which essentially depends on the morphology of the IS/OS line and number of hyper-reflective layers.
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Mácula Lútea/diagnóstico por imagen , Retinitis Pigmentosa/diagnóstico por imagen , Tomografía de Coherencia Óptica/métodos , Adolescente , Adulto , Anciano , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Retinitis Pigmentosa/patología , Agudeza Visual , Adulto JovenRESUMEN
AIM: To describe a case of ophthalmic artery occlusion associated with anisocoria and revealing a cavernous sinus thrombosis due to sinusitis. OBSERVATION: A 48-year-old man with a history of diabetes presented acutely with loss of vision and proptosis in the left eye. Ophthalmologic examination concluded in a left ophthalmic artery occlusion with anisocoria and total ophthalmoplgia. Cardiac assessment was normal. Magnetic resonance imaging (MRI) revealed left ophthalmic artery and internal carotid occlusions, left cavernous and transverse sinus thrombosis and sphenoid sinusitis. The patient underwent extensive haematological and medical assessment to search for embolic sources and disease causing thrombophilia. The patient recovered from the thrombosis episode, but sustained permanent blindness. CONCLUSION: Ophthalmic manifestations may be the only signs revealing cavernous sinus thrombosis which must be usually suspected. Visual prognostic was very poor.
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Arteriopatías Oclusivas/etiología , Trombosis del Seno Cavernoso/diagnóstico , Arteria Oftálmica/diagnóstico por imagen , Oftalmoplejía/etiología , Anisocoria/etiología , Arteriopatías Oclusivas/diagnóstico por imagen , Trombosis del Seno Cavernoso/etiología , Humanos , Masculino , Persona de Mediana Edad , Sinusitis del Esfenoides/complicacionesRESUMEN
To report a case of bilateral granulomatous post-streptococcal syndrome uveitis in association with reactive arthritis as manifestation of post-streptococcal syndrome. To our knowledge, this could represent the first reported case in the literature. A 9-year-old girl, with no past ocular history, presented with a 5-day history of bilateral blurred vision, red eyes, photophobia and walking difficulties because of a right ankle pain. Ophthalmic examination disclosed a visual acuity limited to hand motion, mutton-fat keratic precipitates, anterior chamber cells and posterior synechiae in both eyes. Ocular pressure was normal. Physical examination showed a fever (38 °C), inflammatory ankle arthritis and scarlet fever (streptococcal lesion). Anti-streptococcal lysine O titer was 419 µ/ml. The patient was treated with topical steroids, cycloplegics, high-dose oral steroids and preventive course of penicillin with total improvement and no recurrence. Post-streptococcal syndrome should be considered in the etiology of acute bilateral granulomatous uveitis in children, and anti-streptococcal lysine O titer should be considered in serodiagnostic testing.
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Artritis Reactiva/microbiología , Granuloma/microbiología , Infecciones Estreptocócicas , Uveítis Anterior/microbiología , Tobillo , Niño , Femenino , Humanos , Síndrome , Trastornos de la Visión/microbiologíaRESUMEN
BACKGROUND: Inherited retinal dystrophies are the major causes of blindness and visual impairment. Visual loss is due to neurosensory retinal and pigment epithelium cells degeneration. The most severe were Leber Congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and early onset RP. The LCA and juvenile RP are called «Early Onset Retinal Dystrophy¼ (EORD). OBJECTIVE: Molecular exploration of the R91W (RPE65 gene) in Tunisian patients with Early Onset Retinal Dystrophy and early onset RP. METHODS: All patients underwent a complete ophthalmological and a general examinations. The R91W exploration was performed by direct sequencing of exon 4 of the RPE65 gene and enzyme digestion. RESULTS: Among 47 patients, 13 were from Nabeul. Twenty three had an EROD with a visual loss under the age of 2 years. Twenty four were with early onset RP and had these symptoms between the ages of 4 and 10 years. The best corrected visual acuity ranged from 2/10 to 1/60. Among the explored 94 chromosomes, the R91W (325C>T) allele was identified in heterozygous state in a sibling from Nabeul. The allele frequency was 2.12% (2/94). CONCLUSION: All our patients had severe forms of RP with a decrease in visual acuity and a wide advanced retinal degeneration. The R91W mutation (325C>T) was not the major cause of EORD and early onset RP among Tunisian patients.
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Enfermedades Hereditarias del Ojo/genética , Distrofias Retinianas/genética , Retinitis Pigmentosa/genética , cis-trans-Isomerasas/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Frecuencia de los Genes , Humanos , Masculino , Persona de Mediana Edad , Mutación , Túnez , Adulto JovenRESUMEN
Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal-recessive form (arMCOP) of the disease. Based on published linkage data, we refined the position of the disease locus (MCOP6) in an interval of 250 kb in chromosome 2q37.1 in two large Faroese families. We detected three different mutations in PRSS56. Patients of the Faroese families were either homozygous for c.926G>C (p.Trp309Ser) or compound heterozygous for c.926G>C and c.526C>G (p.Arg176Gly), whereas a homozygous 1 bp duplication (c.1066dupC) was identified in five patients with arMCOP from a consanguineous Tunisian family. In one patient with MCOP from the Faroe Islands and in another one from Turkey, no PRSS56 mutation was detected, suggesting nonallelic heterogeneity of the trait. Using RT-PCR, PRSS56 transcripts were detected in samples derived from the human adult retina, cornea, sclera, and optic nerve. The expression of the mouse ortholog could be first detected in the eye at E17 and was maintained into adulthood. The predicted PRSS56 protein is a 603 amino acid long secreted trypsin-like serine peptidase. The c.1066dupC is likely to result in a functional null allele, whereas the two point mutations predict the replacement of evolutionary conserved and functionally important residues. Molecular modeling of the p.Trp309Ser mutant suggests that both the affinity and reactivity of the enzyme toward in vivo protein substrates are likely to be substantially reduced.
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Genes Recesivos/genética , Microftalmía/genética , Mutación/genética , Serina Endopeptidasas/genética , Serina Proteasas/genética , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Análisis Mutacional de ADN , Ojo/enzimología , Ojo/patología , Familia , Regulación Enzimológica de la Expresión Génica , Sitios Genéticos/genética , Humanos , Meiosis/genética , Ratones , Microftalmía/enzimología , Modelos Moleculares , Datos de Secuencia Molecular , Serina Endopeptidasas/química , Serina Endopeptidasas/metabolismo , Serina Proteasas/química , Serina Proteasas/metabolismoRESUMEN
AIM: To study the epidemiological profile and the degree of severity of hyperopia in Tunisia primary school and to assess its effect on school performance. METHODS: A cross-sectional, descriptive survey was conducted among 6-14 aged Tunisian children attending primary urban and rural schools. A total of 6192 children were selected using stratified random cluster sampling. Cycloplegic refractive error was measured among all children with uncorrected visual acuity less than 9/10 or signs of astheniopia. Hyperopia was defined as spherical equivalent (SE) 2.0 diopters (D). We have also searched a possible relation between degree of severity of hyperopia and school performance. RESULTS: The prevalence of hyperopia was 2.61%. The spherical equivalent mean was + 3.73 ± 0.94 D. The mean age was 9.67 ± 0.44 years. This prevalence was 2.77% in boys and 2.47% in girls. 3.13% of students were living in urban areas and 1.42% in rural areas. The hyperopia rate decreased significantly with age (p = 0.021), but it was not significantly related to gender (p=0.54). The difference in the prevalence of hyperopia between urban and rural areas was not statistically significant (p = 0.067). There was no significant association between the degree of severity of hyperopia and school performance (p=0.41). CONCLUSION: In our study, the prevalence of hyperopia among schoolage children in Tunisia was 2.61%.The identification of this refractive error and its correction as soon as possible would ensure these children better visual comfort and a better education.
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Hiperopía/epidemiología , Estudiantes/estadística & datos numéricos , Adolescente , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Prevalencia , Instituciones Académicas/estadística & datos numéricos , Túnez/epidemiologíaRESUMEN
PURPOSE: To report a very rare and atypical case of an elderly Caucasian female patient who developed perilesional multiple polypoidal choroidal vasculopathy (PCV) as a probable complication of choroidal osteoma (CO), associated to preretinal neovascular membrane overlying the lesion. METHODS: Observational case report. CASE OBSERVATION: A 60-year-old Caucasian woman presented with blurred vision in her right eye (RE). Fundus examination revealed a round white-yellowish calcified deep lesion in the juxta-papillary superior area, measuring 4 disc-diameters, with well-defined scalloped margins and an irregular surface. B-scan ultrasonography and orbital tomography confirmed the diagnosis of choroidal osteoma (CO). Further investigation with multimodal imaging including infracyanine green angiography, fluorescein angiography, swept source optical coherence tomography and angiography highlighted the presence of multiple aneurysmal choroidal dilations around the CO, corresponding to PCV. We also noted the presence of a preretinal neovascular membrane overlying the CO. The patient was monitored with regular follow-up since no signs of activity were detected on multimodal imaging. CONCLUSION: Our case report represents an exceptional and atypical association between pre-retinal neovascularization, PCV and choroidal osteoma. While the mechanisms underlying the development of PCV and pre-retinal neovascularization in the setting of CO are not well understood, it is imperative for ophthalmologists to recognize this association as a potential cause of sudden vision loss in patients with CO, and to consider appropriate diagnostic and management strategies.
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Neoplasias de la Coroides , Neovascularización Coroidal , Angiografía con Fluoresceína , Osteoma , Neovascularización Retiniana , Tomografía de Coherencia Óptica , Agudeza Visual , Humanos , Femenino , Persona de Mediana Edad , Osteoma/diagnóstico , Osteoma/complicaciones , Angiografía con Fluoresceína/métodos , Neoplasias de la Coroides/diagnóstico , Neoplasias de la Coroides/complicaciones , Neovascularización Coroidal/diagnóstico , Neovascularización Coroidal/etiología , Neovascularización Coroidal/tratamiento farmacológico , Neovascularización Retiniana/diagnóstico , Neovascularización Retiniana/etiología , Fondo de Ojo , Imagen Multimodal , Coroides/irrigación sanguínea , Pólipos/diagnóstico , Vasculopatía Coroidea PolipoideaRESUMEN
PURPOSE: Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness. This degenerative process primarily affects peripheral vision due to the loss of rods. Autosomal recessive RP (arRP) is clinically and genetically heterogeneous. It has been associated with mutations in different genes, including CRB1 (crumbs homolog 1). The aim of this study was to determine the causative gene in a Tunisian patient with arRP born to non-consanguineous parents. METHODS: Four accessible family members were included. They underwent full ophthalmic examination with best-corrected Snellen visual acuity, fundus photography and fluorescein angiography. Haplotype analysis was used to evaluate homozygosity in the family to 20 arRP loci. All exons and intron-exon junctions of candidate genes not excluded by haplotype analysis were PCR amplified and directly sequenced. RESULTS: The proband was a 43-year-old female patient. Best-corrected visual acuity was 20/63 (right eye) and 20/80 (left eye). Visual loss began during the third decade. Funduscopic examination and fluorescein angiography revealed typical advanced RP changes with bone spicule-like pigment deposits in the posterior pole and the midperiphery along with retinal atrophy, narrowing of the vessels, and waxy optic discs. Haplotype analysis revealed homozygosity with microsatellite markers D1S412 and D1S413 on chromosome 1q31.3. These markers flanked CRB1. Our results excluded linkage of all the other arRP loci/genes tested. Sequencing of the 12 coding exons and splice sites of CRB1 disclosed a homozygous missense mutation in exon 7 at nucleotide c. 2291G>A, resulting in an arginine to histidine substitution (p.R764H). CONCLUSIONS: R764H is a novel mutation associated with CRB1-related arRP. Previously, an R764C mutation was reported. Extending the mutation spectrum of CRB1 with additional families is important for genotype-phenotype correlations and characterization of the scope of mutation.
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Proteínas del Ojo/genética , Genes Recesivos/genética , Homocigoto , Proteínas de la Membrana/genética , Mutación/genética , Proteínas del Tejido Nervioso/genética , Retinitis Pigmentosa/genética , Adulto , Secuencia de Aminoácidos , Sustitución de Aminoácidos , Electroforesis en Gel de Agar , Exones/genética , Proteínas del Ojo/química , Femenino , Fondo de Ojo , Predisposición Genética a la Enfermedad , Humanos , Masculino , Proteínas de la Membrana/química , Datos de Secuencia Molecular , Proteínas del Tejido Nervioso/química , Linaje , Alineación de SecuenciaRESUMEN
To report an unusual clinical presentation of ocular trauma in a child. Observational case report used in this study. A 12 year-old previously healthy boy presented with decreased vision and corneal opacity in the right eye following a punch in the face three years earlier. At presentation, his vision in the right eye was counting fingers. Ophthalmologic examination of the right eye revealed paracentral Descemet's membrane detachment and slit-lamp examination showed corneal opacity occupying almost 80 % of the corneal surface. In addition, there was a corneal white liquid collection communicating with the anterior chamber. The contralateral eye was within normal limits. The patient underwent penetrating keratoplasty. Bacteriological cultures of the corneal liquid did not reveal the presence of germs. The post-operative course was uneventful, the graft was clear and there was no evidence of graft rejection or failure. Visual acuity in the operated eye was 5/10. At present, the patient is still being followed up. The authors believe that this case is unique since Descemet's membrane detachment with liquid collection and corneal opacification has never been reported in literature to date.
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Opacidad de la Córnea/etiología , Lámina Limitante Posterior/lesiones , Lesiones Oculares/complicaciones , Traumatismos Faciales/complicaciones , Niño , Opacidad de la Córnea/diagnóstico , Opacidad de la Córnea/cirugía , Lámina Limitante Posterior/patología , Lámina Limitante Posterior/cirugía , Diagnóstico Diferencial , Lesiones Oculares/diagnóstico , Lesiones Oculares/cirugía , Traumatismos Faciales/diagnóstico , Estudios de Seguimiento , Humanos , Queratoplastia Penetrante , Masculino , Factores de TiempoRESUMEN
AIM: Our aim is to report a case with bilateral Waldenström's macroglobulinemia (WM) associated maculopathy, assessed with multimodal imaging including swept source optical coherence tomography (SS-OCT) and OCT-Angiography (OCT-A). METHODS: Observational case report. CASE PRESENTATION: A 61-year-old diabetic woman with history of treated WM currently in remission, presented with progressive bilateral visual loss. Best-corrected visual acuity was 20/100 in the right eye (RE) and 20/200 in the left eye (LE). Fundus examination showed bilateral microaneurysms and retinal punctuate hemorrhages and a large macular serous detachment in the LE. There was no retinal ischemia on FA nor macular dye leakage. SS-OCT showed a significant schisis-like intraretinal fluid accumulation in the RE and a large prominent macular detachment with significant subretinal fluid accumulation in the LE. Retinal and choriocapillaris vascular densities were normal on OCT-A. CONCLUSION: Our case illustrated characteristic multimodal imaging findings in WM associated maculopathy such as schisis-like intraretinal fluid accumulation and angiographically silent serous macular detachment. OCT-A could non-invasively analyze macular vascular densities layer-by-layer, without noticing any vascular anomaly.
Asunto(s)
Degeneración Macular , Desprendimiento de Retina , Enfermedades de la Retina , Macroglobulinemia de Waldenström , Femenino , Humanos , Persona de Mediana Edad , Macroglobulinemia de Waldenström/complicaciones , Macroglobulinemia de Waldenström/diagnóstico , Enfermedades de la Retina/complicaciones , Desprendimiento de Retina/diagnóstico , Degeneración Macular/complicaciones , Tomografía de Coherencia Óptica , Imagen Multimodal , Angiografía con Fluoresceína/métodosRESUMEN
AIMS: The aims of this study were to analyze retinal and choroidal changes on optical coherence tomography (OCT) and OCT-Angiography (OCT-A) in Alzheimer's disease (AD) patients and compare them to other forms of major dementia. We also aimed to analyze the correlation between clinical severity of global cognitive deficiency assessed by the mini-mental state exam (MMSE) score and OCT/OCT-A parameters. METHODS: Retrospective cross-sectional evaluative study of AD, and age-and gender-matched patients with other dementias. Fundus examination, OCT and OCT-A were compared. RESULTS: Ninety-one eyes of AD patients and 53 eyes of patients with other dementias were included. Retinal deposits were found in 6.59% of AD cases. OCT highlighted the presence of hyperreflective deposits and localized areas of outer retina and ellipsoid zone disruption, respectively in 20.87% and 15.38% of AD cases. Hyperreflective foci were noted within inner retinal layers in 4.39% of AD cases. Quantitative analysis revealed a thicker nasal retinal nerve fiber layer (p = 0.001) and ganglion cell complex in superior (p = 0.011) and temporal quadrants (p = 0.009) in eyes of AD patients, compared to other dementias. OCT-A showed a significantly higher fractal dimension of both superficial and deep capillary plexus (p = 0.005), with lower choriocapillaris density (p = 0.003) in AD patients. CONCLUSIONS: Structural OCT could highlight the presence of hyperreflective deposits in AD, probably reflecting beta-amyloid deposits, associated to outer retinal disruptions. Quantitative OCT analysis showed structural differences between AD patients and other dementias, and combined OCT-A could identify microvascular changes in AD patients representing new potential differential diagnosis criteria.
Asunto(s)
Enfermedad de Alzheimer , Disfunción Cognitiva , Humanos , Tomografía de Coherencia Óptica/métodos , Estudios Retrospectivos , Enfermedad de Alzheimer/diagnóstico , Estudios Transversales , Retina , Disfunción Cognitiva/diagnóstico , Angiografía , Angiografía con Fluoresceína/métodos , Vasos RetinianosRESUMEN
PURPOSE: To evaluate choroidal findings on multimodal imaging in eyes within pachychoroid spectrum diseases and to compare quantitative and qualitative choroidal features between non-neovascular (NNV-PDS) and neovascular (NV-PDS) pachychoroid diseases. METHODS: Retrospective cross-sectional study comparing between NV-PDS and NNV-PDS. All patients underwent multimodal imaging including infracyanine green angiography (IFCGA) and swept source optical coherence tomography (OCT) and angiography (OCT-A). The following parameters were analyzed: subfoveal choroidal thickness (SFCT), choroidal vascular index (CVI), presence of pachyvessels and choroidal vascular interconnections (CVIC), presence of choroidal neovascularization and choriocapillaris density. RESULTS: Of the 87 eyes included in the study, 63 eyes (73%) had NNV-PDS and 24 eyes (27%) had NV-PDS. Mean SFCT and CVI were significantly higher in NNV-PDS group (p = 0.01; p = 0.022). Pachyvessels were more diffusely distributed in NNV-PD group and more focally distributed in NV-PDS group (p = 0.029). CVIC were more frequently noted in NV-PDS group (p = 0.024). A higher CVI was associated to a thicker choroid (p < 0.001), with significant negative correlations between the presence of CVIC and both SFCT (p = 0.015) and CVI (p = 0.002). We also observed a lower choriocapillaris vascular density and higher number of choriocapillaris flow voids in eyes with NNV-PDS (p = 0.24; p = 0.61). CONCLUSION: NNV-PDS eyes had a significantly thicker SFCT, higher CVI and a lower rate of detected CVIC than eyes with NV-PDS. These highlighted choroidal vascular changes might lead to a better understanding of pachychoroid disease pathophysiology. More frequently observed in NV-PDS group, CVIC are believed to assess the development of vortex vein anastomoses as a remodelling process for vascular decongestion.
RESUMEN
Purpose: To report a case of a bilateral complex uveitic glaucoma (UG) with pupillary block, rupture of the anterior lens capsule, and malignant glaucoma in a young high-myopic patient and to report anterior segment optical coherence tomography (AS-OCT) findings initially and following surgery. Methods: A 21-year-old high-myopic woman who had a history of anterior uveitis with extensive posterior synechiae, presented with acute bilateral ocular pain, redness, and blurred vision following bilateral Nd: YAG laser peripheral iridotomy (LPI). Results: Visual acuity was limited to light perception in both eyes (OU), with a flat anterior chamber (AC) and anterior luxation of lens fragments. Intraocular pressure (IOP) was over 60 mmHg OU. AS-OCT showed closed angles and hyperreflective heterogeneous material within the flat AC. The iris and lens fragments were plated against the corneal endothelium OU. We performed an urgent pars plana vitrectomy associated with lensectomy. It was uneventful in OU. Repeated AS-OCT revealed a deep AC, widely open angles, and aphakia. IOP was lowered to 9 mmHg and visual acuity improved to 5/10 in OU. Conclusion: Performing LPI might be harmful in the presence of UG with extensive posterior synechia, resulting in complex mechanism glaucoma with aqueous misdirection syndrome associated with a pupillary block due to anterior lens luxation, even in high-myopic eyes. Nd: YAG LPI should not be performed simultaneously in OU, especially in pathologic eyes, to prevent bilateral vision-threatening complications. AS-OCT was of great help, allowing easy and detailed ultrastructural assessment of the ACs, and iridocorneal angles before and after surgery.