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    2641 results match your criteria Archivos de la Sociedad Espanola de Oftalmologia [Journal]

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    Diplopia secondary to orbital fracture in adults.
    Arch Soc Esp Oftalmol 2017 Sep 8. Epub 2017 Sep 8.
    Servicio de Cirugía Maxilofacial, Hospital POVISA, Vigo, Pontevedra, España.
    Objective: To evaluate the incidence and evolution of diplopia as a complication of orbital fractures in adults.

    Patients And Methods: A review was conducted on medical records of all consecutive adults with orbital fracture referred between January 2014 and December 2015. An analysis was made of the incidence of diplopia secondary to fracture in the acute phase and its evolution. Read More

    ADenoVirus Initiative Study in Epidemiology (ADVISE): Results of a multicentric epidemiology study in Spain.
    Arch Soc Esp Oftalmol 2017 Sep 7. Epub 2017 Sep 7.
    Unidad de Inflamación y Superficie Ocular, Servicio de Oftalmología, Instituto de Investigación Sanitaria, Hospital Clínico San Carlos (IdISSC), Madrid, España; Redes Temáticas de Investigación Cooperativa en la Red (RETICS), Instituto Carlos III, Madrid, España.
    Objective: Non-interventional, observational, epidemiology study to assess clinical characteristics and frequency of adenovirus conjunctivitis diagnosed by AdenoPlus(®) in patients who presented with signs and symptoms of acute conjunctivitis. Safety aspects during use of the test were analyzed as well.

    Method: This analysis presents the data obtained from the 386 patients enrolled in Spain. Read More

    Human immunodeficiency virus-associated giant conjunctival Kaposi's sarcoma: complete remission with antiretroviral therapy and systemic chemotherapy.
    Arch Soc Esp Oftalmol 2017 Sep 5. Epub 2017 Sep 5.
    INOF-Centro de Investigación y Cirugía Ocular, Centro Médico Teknon, Barcelona, España.
    Case Report: A 35-year-old male patient with a large unilateral haemorrhagic conjunctival tumour lesion and another contralateral haemorrhagic conjunctival flat lesion associated with violaceous cutaneous macules on the extremities and angiomatous lesions in the upper gastrointestinal tract as initial clinical manifestation of HIV-related immunodeficiency. Cutaneous, gastric mucosal and conjunctival biopsy was consistent with Kaposi's sarcoma with complete remission after highly active antiretroviral therapy and systemic chemotherapy.

    Conclusion: HIV-related conjunctival Kaposi's sarcoma, even a large one, can have a good response to antiretroviral therapy and systemic chemotherapy without any additional topical eye treatment. Read More

    Geographic atrophy: Etiopathogenesis and current therapies.
    Arch Soc Esp Oftalmol 2017 Sep 5. Epub 2017 Sep 5.
    Servicio de Oftalmología, Hospital Universitario y Politécnico La Fe, Valencia, España.
    Geographic atrophy is characterized by severe visual deficit whose etiology and pathophysiology are yet to be elucidated. As a working hypothesis, oxidative damage could trigger a chronic inflammation in Bruch's membrane-RPE-choriocapillaris complex, mostly due to complement pathway overactivation. Some individuals with mutations in the complement system and other factors have diminished capacity in the modulation of the inflammatory response, which results in cell damage and waste accumulation. Read More

    Genetic variant of Stickler's syndrome.
    Arch Soc Esp Oftalmol 2017 Sep 4. Epub 2017 Sep 4.
    Servicio de Oftalmología, Hospital Universitario Son Espases , Palma de Mallorca, España.
    Cases Reports: Three myopic components of a same family came for study because presented severely degraded vitreous, equatorial membranes, retinal pigment epithelium hyperplasia, vascular sheathed and sclerosis of peripheral predominance. A genetic study confirmed the diagnosis of Stickler syndrome with a variant in the mutation of the COL2A1 gene.

    Discussion: Stickler's syndrome should be suspected in families with a characteristic phenotype with vitreous syneresis and alterations in the retina, but there may be genetic variants that do not express the classic phenotype. Read More

    Tattoo associated retinochoroiditis.
    Arch Soc Esp Oftalmol 2017 Aug 24. Epub 2017 Aug 24.
    New York University School of Medicine, Department of Ophthalmology, New York, EE.UU.
    Clinical Case: A young woman was referred to our offices with impairment of visual acuity after she received a third tattoo on her arm. Systemic medical and laboratory work-up were performed in order to exclude an infectious agent or inflammatory disease. A yellowish juxtafoveal lesion in left eye along with a plaque-like outer retinal disruption and focal pigmentary defects was assessed using multi-modal diagnostic imaging. Read More

    Recurrent conjunctival atypical fibroxanthoma in Pigmentosum Xeroderma.
    Arch Soc Esp Oftalmol 2017 Aug 23. Epub 2017 Aug 23.
    Departamento de Oftalmología, Hospital Universitario y Politécnico la Fe, Valencia, España.
    Case Report: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. Read More

    Remifentanil: A help in topical strabismus surgery.
    Arch Soc Esp Oftalmol 2017 Aug 19. Epub 2017 Aug 19.
    Servicio de Anestesiología, Reanimación y Terapéutica del Dolor, Hospital General de Segovia, Segovia, España.
    Objective: To analyze the analgesic effect of remifentanil, side effects and complications in topical strabismus surgery. To study the results of strabismus surgery with this type of anesthesia.

    Material And Method: Retrospective descriptive study. Read More

    Dermal-fat graft for anophthalmic socket in children enucleated for retinoblastoma.
    Arch Soc Esp Oftalmol 2017 Aug 2. Epub 2017 Aug 2.
    Instituto Nacional de Pediatría, Ciudad de México, México.
    Retinoblastoma is the most frequent intraocular tumour in childhood. The definitive treatment is enucleation. The management of the anophthalmic socket consists in the use of a plastic implant. Read More

    Purtscher-like retinopathy preceding acute renal failure.
    Arch Soc Esp Oftalmol 2017 Jul 28. Epub 2017 Jul 28.
    Hospital Universitario Virgen del Rocío, Sevilla, España.
    Case Report: The case is reported of a 61 year-old woman with Purtscher-like retinopathy associated with acute renal failure. Ophthalmic examination, fluorescein-angiography, and optical coherence tomography were consistent with Purtscher-like retinopathy. Ophthalmic symptoms and signs preceded renal failure. Read More

    Retinal toxicity after accidental intravitreal injection of mepivacaine and adrenaline.
    Arch Soc Esp Oftalmol 2017 Jul 28. Epub 2017 Jul 28.
    Hospital Universitario Virgen del Rocío, Sevilla, España.
    Case Report: The case is presented of a 32 year-old male with no medical history of interest who suffered a traffic accident with mild traumatic brain injury. He had a left supraciliary incised and contused wound that extended to the left upper eyelid, with no loss of vision. After palpebral anaesthetic injection, there was a sudden visual acuity decrease in the left eye and hyposphagma located between I-III at 4mm from the limbus, with increased intraocular pressure. Read More

    Tuberculosis, granulomatosis with polyangiitis, or both? A case report.
    Arch Soc Esp Oftalmol 2017 Jul 27. Epub 2017 Jul 27.
    Instituto de Oftalmología Fundación de Asistencia Privada Conde de Valenciana IAP, Ciudad de México, México.
    Introduction: Tuberculosis (TB) is a chronic granulomatose infection, and granulomatosis with polyangiitis (GP) is a small vessel vasculitis, both of which affect the lungs. The combination of these diseases is rare. Both have similar clinical features, making the differential diagnosis difficult. Read More

    Asymptomatic choroidal tubercle in a patient with Crohn's disease on adalimumab treatment.
    Arch Soc Esp Oftalmol 2017 Jul 22. Epub 2017 Jul 22.
    Servicio de Oftalmología, Hospital Clínico Universitario, Valladolid, España.
    Introduction: Adalimumab, an anti-tumour necrosis factor alpha therapy for active Crohn's disease (CD), is associated with increased risks of tuberculosis infection.

    Case Report: The case is presented of a 48 year-old male with active CD on treatment with adalimumab. After three months, he developed a miliary pulmonary tuberculosis infection, with a solitary non-reactive choroidal tubercle temporal-superior to the optic disc being found in an ophthalmological study. Read More

    Colour vision abnormality as the only manifestation of normal pressure hydrocephalus.
    Arch Soc Esp Oftalmol 2017 Jul 23. Epub 2017 Jul 23.
    Servicio de Oftalmología, Hospital Clínico Universitario, Valladolid, España.
    Clinical Case: The case is presented of a 73-year-old male patient who referred to having black and white vision. Computed tomography showed normal pressure hydrocephalus (NPH). Magnetic resonance imaging was not performed because the patient refused to undergo further examinations. Read More

    Strabismus-associated myopia. Review.
    Arch Soc Esp Oftalmol 2017 Jul 23. Epub 2017 Jul 23.
    Servicio de Oftalmología, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, España.
    Introduction: The treatment of strabismus associated with myopia is often a therapeutic challenge for the ophthalmologist. The strabismus associated with myopia has certain peculiarities and there are even certain types of strabismus that occur exclusively in myopia, such as strabismus fixus, requiring treatments with specific surgical techniques.

    Materials And Methods: It is important to make a correct differential diagnosis, because there are many conditions described with this association. Read More

    Corneal melting after cataract surgery in a patient with autoimmune disease.
    Arch Soc Esp Oftalmol 2017 Jul 22. Epub 2017 Jul 22.
    Servicio de Superficie Ocular y Córnea, Centro de Oftalmología Barraquer, Barcelona, España.
    Case Report: A 78-year-old woman with rheumatoid arthritis and secondary Sjögren's syndrome presented with corneal melting three days after cataract extraction that required penetrating keratoplasty. By the fourth month, a second corneal transplant was needed due to a new descemetocele associated with her systemic disease.

    Discussion: The underlying disease, together with the surgical history, was responsible for the complication presented. Read More

    Pseudoexfoliation signs in the anterior segment assessed by optical coherence tomography and Scheimpflug device.
    Arch Soc Esp Oftalmol 2017 Jul 22. Epub 2017 Jul 22.
    Centro Internacional de Oftalmología Avanzada, Madrid, España; Departamento de Oftalmología, Universidad de Extremadura , Badajoz, España.
    Objective: To evaluate different anterior segment parameters in eyes with pseudoexfoliation (PSX), fellow eyes, and controls using optical coherence tomography and a Scheimpflug imaging system.

    Methods: Three groups were studied: 44 eyes of 44 patients with PSX, 30 clinically unaffected fellow eyes, and 148 eyes of 148 healthy controls. The anterior chamber depth and volume, corneal volume and thickness, pupil diameter and corneal densitometry were measured using a Scheimpflug imaging system (Pentacam, Oculus Inc. Read More

    Intraocular metastasis: comparison of clinical presentation with a known and unknown primary tumour.
    Arch Soc Esp Oftalmol 2017 Jul 21. Epub 2017 Jul 21.
    Unidad de Tumores Intraoculares del Adulto, Servicio de Oncología Radioterápica, Hospital Clínico Universitario de Valladolid, Valladolid, España.
    Objective: The purpose of the present study is to review the frequency of intraocular metastases as first presentation of systemic disease, and to identify clinical and tumour characteristics.

    Methods: Retrospective study of consecutive cases diagnosed of intraocular metástasis at a referral intraocular tumours unit between 1993 and 2014. General, epidemiological and ophthalmological characteristics were recorded. Read More

    Topical brinzolamide in congenital nystagmus: A retrospective study.
    Arch Soc Esp Oftalmol 2017 Jul 19. Epub 2017 Jul 19.
    Unidad de Estrabología, Servicio de Oftalmología, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, España; Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Universidad Complutense, Madrid, España.
    Objective: To evaluate the effect of treatment with topical brinzolamide on visual acuity and nystagmus intensity in patients with congenital nystagmus.

    Material And Methods: A retrospective study was designed in which the clinical records of 14 patients with congenital nystagmus were reviewed. All patients underwent a complete ophthalmological examination and a Perea video-oculography (VOG) before, and three days after, initiation of treatment with topical brinzolamide (Azopt). Read More

    Ultrasound, histopathological, and genetic features of uveal melanoma in a Mexican-Mestizo population.
    Arch Soc Esp Oftalmol 2017 Jul 17. Epub 2017 Jul 17.
    Departamento de Ultrasonido, Asociación para Evitar la Ceguera en México, Coyoacán, México.
    Objective: To describe the ultrasound, histopathological and genetic characteristics of uveal melanoma in a Mexican-Mestizo population.

    Material And Methods: A total of 39 enucleated eyes with a histopathological diagnosis of uveal melanoma were assessed by describing the clinical findings, and ultrasound, histopathological and genetic features.

    Results: A high correlation was observed between tumour height measurement using ultrasound and histopathology. Read More

    Binocular diplopia in a tertiary hospital: Aetiology, diagnosis and treatment.
    Arch Soc Esp Oftalmol 2017 Jul 15. Epub 2017 Jul 15.
    Sección de Motilidad Ocular, Departamento de Oftalmología, HGU Gregorio Marañón, Madrid, España.
    Objective: To study the causes, diagnosis and treatment in a case series of binocular diplopia.

    Material And Method: A retrospective chart review was performed on patients seen in the Diplopia Unit of a tertiary centre during a one-year period. Diplopia was classified as: acute≤1 month since onset; subacute (1-6 months); and chronic (>6 months). Read More

    Macular choroidal thickness after vitreoretinal surgery: Long-term effect of pars plana vitrectomy with and without encircling scleral buckling surgery.
    Arch Soc Esp Oftalmol 2017 Jul 3. Epub 2017 Jul 3.
    Servicio de Oftalmología, Clínica Universitaria de Oftalmología, Hospital Santa Maria, Centro Hospitalario Lisboa Norte, Lisboa, Portugal; Facultad de Medicina, Universidad de Lisboa, Lisboa, Portugal.
    Purpose: To evaluate the macular choroidal thickness (CT) of eyes subjected to pars plana vitrectomy (PPV) whether or not combined with encircling scleral buckling (ESB) surgery for primary rhegmatogenous retinal detachment repair at 6 months or more after surgery.

    Methods: This observational study included: 15 eyes (15 patients) submitted to combined ESB+PPV; 15 eyes submitted to PPV and their respective 30 normal fellow eyes (FE). Two 6mm lineal perpendicular optical coherence tomography B-scans centred on the fovea with enhanced depth imaging were performed on each eye. Read More

    Clinical safety and professional liability claims in Ophthalmology.
    Arch Soc Esp Oftalmol 2017 Jun 29. Epub 2017 Jun 29.
    Servicio de Responsabilidad Profesional, Colegio Oficial de Médicos de Barcelona, Consejo General de Colegios de Médicos de Cataluña, Barcelona, España; Unidad de Medicina Legal, Departamento de Salud Pública, Facultad de Medicina, Universidad de Barcelona, Barcelona, España.
    Introduction: Patient safety is an international public health priority. Ophthalmology scientific societies and organisations have intensified their efforts in this field. As a tool to learn from errors, these efforts have been linked to the management of medical professional liability insurance through the analysis of claims. Read More

    BIlateral juxtapapillary retinal capillary haemangioma: Usefulness of aflibercept in the management of its complications.
    Arch Soc Esp Oftalmol 2017 Jun 23. Epub 2017 Jun 23.
    Servicio de Oftalmología, Hospital Virgen del Puerto, Plasencia (Cáceres), España.
    Case Report: A 45 year-old man with a history of adrenal phaeochromocytoma presented with a subretinal juxtapapillary haemorrhage on his left eye and a small asymptomatic vascular tumour in the contralateral eye. With the mentioned findings, the patient was diagnosed with bilateral retinal capillary haemangioma in the context of a von Hippel Lindau disease. Intravitreal aflibercept was prescribed, with a good outcome of the disease. Read More

    Comparison of 5468 retreatments after laser in situ keratomileusis by lifting the flap or performing photorefractive keratectomy on the flap.
    Arch Soc Esp Oftalmol 2017 Jun 23. Epub 2017 Jun 23.
    Departamento de Catarata y Cirugía Refractiva, Clínica Baviera, Valencia, España.
    Purpose: To assess visual outcomes of retreatment after laser in situ keratomileusis (LASIK) by lifting the flap or performing photorefractive keratectomy (PRK) on the flap, as well as to establish whether there was an increased risk of epithelial ingrowth (EIG) when LASIK and lifting of the flap are separated by a long time interval and to determine the incidence of corneal haze after PRK.

    Methods: Retrospective study of 4077 patients (5468 eyes) who underwent LASIK and subsequent retreatment were reviewed in order to study their visual results and identify cases of EIG and corneal haze.

    Results: Enhancements included 5196 eyes from 3876 patients that were retreated by lifting the flap, and 272 eyes from 201 patients that were retreated by PRK on the flap. Read More

    Tubulointerstitial nephritis and uveitis syndrome (TINU). Treatment with immunosuppressive therapy.
    Arch Soc Esp Oftalmol 2017 Jun 22. Epub 2017 Jun 22.
    Departamento de Oftalmología, Hospital Universitario Virgen del Rocío, Sevilla, España.
    Case Report: Two cases of tubulointerstitial nephritis and uveitis are presented. Immunosuppressive therapy was required to control the uveitis. Contrary to that usually described, uveitis became chronic, which made immunosuppressive therapy necessary. Read More

    Optic nerve metastasis caused by lung adenocarcinoma.
    Arch Soc Esp Oftalmol 2017 Jun 21. Epub 2017 Jun 21.
    Hospital Universitario San Juan de Alicante, San Juan, Alicante, España.
    Introduction: Isolated optic nerve metastases are extremely uncommon. Many cases are associated with involvement from locations such as the choroid, orbit, or central nervous system. Optic nerve metastases often have their origin in primary tumours of the breast, lung, and stomach, in adults. Read More

    Anatomical and refractive outcomes in patients with treated retinopathy of prematurity.
    Arch Soc Esp Oftalmol 2017 Jun 14. Epub 2017 Jun 14.
    Departamento de Oftalmología, Clínica Alemana de Santiago Facultad de Medicina Universidad del Desarrollo, Santiago, Chile; Departamento de Oftalmología, Hospital de Niños Roberto del Río, Santiago, Chile.
    Objective: To describe the anatomical and refractive outcomes after treatment with intravitreal bevacizumab or laser in a patient cohort with retinopathy of prematurity (ROP).

    Methods: A multicentre, prospective, and observational study was performed on patients with ROP treated at Hospital Roberto del Río. Those patients with less than 6months of follow-up were excluded. Read More

    Eplerenone, a new treatment for an old problem: Retinitis pigmentosa with recalcitrant macular edema.
    Arch Soc Esp Oftalmol 2017 Jun 14. Epub 2017 Jun 14.
    Servicio de Oftalmología, Hospital Virgen del Puerto, Plasencia (Cáceres), España.
    Case Report: The case involves a 35-year-old man, with a history of retinitis pigmentosa, who presented with a bilateral cystoid macular oedema associated with bilateral epiretinal membrane, which was resistant to treatment with oral acetazolamide and intravitreal bevacizumab. The treatment with oral eplerenone was able to improve the visual acuity and macular thickness of this patient.

    Discussion: A variety of treatments have been proposed for the management of cystoid macular oedema, associated with retinitis pigmentosa, with variable results. Read More

    Non-lens-based surgical techniques for presbyopia correction.
    Arch Soc Esp Oftalmol 2017 Sep 16;92(9):426-435. Epub 2017 Jun 16.
    Unidad de Cirugía Refractiva y Cataratas, Clínica Baviera Madrid, Madrid, España.
    Introduction: Presbyopia is the most prevalent refractive error. With a progressive aging population, its surgical correction is an important challenge for the ophthalmology community, as well as the millions of patients who suffer from it, and who are increasingly demanding alternatives to its correction with glasses or contact lenses.

    Material And Methods: A review is presented with a synthesised discussion on the pathophysiological theories of presbyopia and an updated and analytical description of the non-lens involvement surgical techniques used to treat presbyopia. Read More

    Sarcoidosis of the lacrimal gland as a first manifestation.
    Arch Soc Esp Oftalmol 2017 Jun 10. Epub 2017 Jun 10.
    Servicio de Patología, Hospital Central Sur de Alta Especialidad-PEMEX, Ciudad de México, México.
    Objective/method: The first manifestation of sarcoidosis is usually at the pulmonary level. The case is described of a 40-year-old female patient, who presented with an increased volume of the lacrimal gland and mechanical ptosis of upper left eyelid as the first expression of this disease.

    Result/conclusion: The diagnosis of systemic sarcoidosis with primary presentation of the lacrimal gland was made after performing several immunological studies with negative results, imaging studies, and taking of glandular and lymph node biopsies. Read More

    Neurotrophic keratopathy in a patient with familial amyloidosis.
    Arch Soc Esp Oftalmol 2017 Sep 9;92(9):447-450. Epub 2017 Jun 9.
    Consorci Sanitari de Terrassa, Tarrasa (Barcelona), España.
    Introduction: Familial amyloidotic polyneuropathy is a disease related to amyloid material deposits in the extracellular matrix that can affect many tissues, including the eye.

    Case Report: This case includes clinical data, a full corneal study report, and histopathological findings, as well as the treatment and follow up of bilateral neurotrophic keratopathy in a 33 year-old patient with familial amyloidotic polyneuropathy.

    Discussion: Although amyloidotic deposits were also found in the conjunctival tissue, this is not a typical form of ophthalmic amyloidosis. Read More

    Quality of life in glaucoma patients and normal subjects related to the severity of damage in each eye.
    Arch Soc Esp Oftalmol 2017 Jun 7. Epub 2017 Jun 7.
    Hospital de l' Esperança-Parc de Salut Mar, Barcelona, España.
    Objective: To assess the quality of life in glaucoma patients and normal subjects, and to assess its relationship with the severity of damage in each eye.

    Methods: A cross-sectional study was conducted with prospective selection of cases. The study included 464 subjects and were distributed into 4categories. Read More

    Focal choroidal excavaction associated with idiopathic choroidal neovascularization.
    Arch Soc Esp Oftalmol 2017 Jun 2. Epub 2017 Jun 2.
    Servicio de Oftalmología, Hospital Universitario Virgen del Rocío de Sevilla, Sevilla, España.
    Case Report: The case is presented of a 45 year-old man with a focal choroidal excavation associated with choroidal neovascularisation not included in the area of excavation. Clinical features were analysed using retinography, fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography. The patient was treated with 3 intravitreal injections of bevacizumab, with a good response. Read More

    Clinical, fundoscopic, tomographic and angiographic characteristics of dome shaped macula classified by bulge height.
    Arch Soc Esp Oftalmol 2017 May 30. Epub 2017 May 30.
    Servicio de Oftalmología, Hospital General Universitario Gregorio Marañón, Instituto Provincial de Oftalmología, Madrid, España.
    Objective: To classify dome shaped macula cases by their bulge height (BH). To analyse the characteristics associated with the groups formed by this classification.

    Methods: Observational, descriptive and cross-sectional study on 15 selected eyes with dome shaped macula and high myopia. Read More

    Efficacy of the SENSIMED Triggerfish(®) in the postoperative follow-up of PHACO-ExPRESS combined surgery.
    Arch Soc Esp Oftalmol 2017 Aug 31;92(8):372-378. Epub 2017 May 31.
    Servicio de Oftalmología, Hospital Clínico Universitario de Valencia, Valencia, España.
    Objective: To determine the usefulness of the SENSIMED Triggerfish(®) system in the postoperative control of combined phacoemulsification and ExPRESS implant (PHACO-ExPRESS) surgery in patients with cataract and chronic open angle glaucoma (COAG) during a 2 months follow-up.

    Methods: A prospective study conducted on 15 eyes that were subjected to PHACO-ExPRESS combined surgery. Using the SENSIMED Triggerfish(®) system, two records of the circadian patterns of intraocular pressure (IOP) were performed, one before and one after surgery. Read More

    Next generation sequencing in the diagnosis of Stargardt's disease.
    Arch Soc Esp Oftalmol 2017 May 29. Epub 2017 May 29.
    Sección de Genómica Estructural y Funcional, Servicio Genética INGEMM-IdiPAZ-CIBERER, Hospital Universitario La Paz, Madrid, España.
    Introduction: Stargardt's disease is the most frequent form of inherited macular dystrophy in children and adults. It is a genetic eye disorder caused by mutations in ABCA4 gene with an autosomal recessive inheritance. ABCA4 is a very polymorphic and large gene containing 50 exons. Read More

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