ABSTRACT
ABSTRACT We describe the case of a 15-year-old girl with decreased visual acuity associated with elevated intraocular pressure in both eyes and angle closure on gonioscopy. She also presented attenuation of retinal vessels and optic disc pallor with large excavation in the left eye. Ultrasound biomicroscopy revealed an anteriorly positioned ciliary body and absence of ciliary sulcus, confirming the plateau iris configuration. Spectral-domain optical coherence tomography revealed a bilateral cystoid macular edema. Genetic screening revealed heterozygous variants of the Crumbs homolog 1 (CRB1) gene (c.2843G>A and c.2506C>A). The patient underwent trabeculectomy for intraocular pressure control and topical treatment for macular edema. This case highlights the importance of performing gonioscopy and evaluating intraocular pressure in patients with a shallow anterior chamber despite young age. In addition, it also shows the importance of genetic screening, when available, in elucidating the diagnosis and providing patients and their families' information on the patient's prognosis and possible therapeutic options.
RESUMO Nós descrevemos um caso de uma paciente de 15 anos com queda de acuidade visual e aumento da pressão intraocular em ambos os olhos, juntamente com fechamento angular no exame de gonioscopia. Na fundoscopia a paciente apresentava atenuação dos vasos retinianos, palidez de disco e aumento de escavação em olho esquerdo. Ao exame da biomicroscopia ultrassônica, foi evidenciado corpo ciliar anteriorizado e ausência de sulco ciliar em ambos os olhos, relevando presença de íris em plateau. Ao exame de tomografia de coerência óptica, visualizamos presença de edema macular cistoide bilateral. O screening genético revelou heterozigose no gene CRB1 (c.2843G>A and c.2506C>A), confirmando o diagnóstico de retinose pigmentar. Este caso reforça a importância do exame de gonioscopia e da avaliação da pressão intraocular em pacientes em câmara rasa, mesmo em pacientes jovens. Além disso, mostra a importância do screening genético como ferramenta útil para elucidação diagnóstica.
Subject(s)
Humans , Adolescent , Glaucoma, Angle-Closure , Retinitis Pigmentosa , Glaucoma, Angle-Closure/surgery , Glaucoma, Angle-Closure/genetics , Retinitis Pigmentosa/complications , Retinitis Pigmentosa/genetics , Eye Proteins/genetics , Membrane Proteins , Nerve Tissue ProteinsABSTRACT
ABSTRACT Reticular pigmentary retinal dystrophy, also known as Sjögren's reticular dystrophy, is a rare condition characterized by macular lesions with a reticular pattern, which are best seen on fluorescein angiogram. Choroidal neovascularization secondary to this type of dystrophy is even less common. This report describes a case of reticular pigmentary retinal dystrophy with vision loss due to neovascular membrane, which responded well to treatment with anti-vascular endothelial growth factor.
RESUMO A distrofia reticular pigmentar da retina, também conhecida como distrofia reticular de Sjögren, é uma doença rara, caracterizada por lesões maculares com um padrão reticular, que são mais bem visualizadas na angiografia com fluoresceína. A neovascularização de coroide secundária a este tipo de distrofia é ainda menos comum. Este relato descreve um caso de distrofia reticular pigmentar da retina, com perda de visão devido à membrana neovascular, que respondeu bem ao tratamento com fator de crescimento endotelial antivascular.
Subject(s)
Humans , Male , Aged , Retinitis Pigmentosa/complications , Choroidal Neovascularization/etiology , Choroidal Neovascularization/drug therapy , Retinal Dystrophies/complications , Ranibizumab/administration & dosage , Sjogren's Syndrome/complications , Follow-Up Studies , Choroidal Neovascularization/diagnosis , Angiogenesis Inhibitors/administration & dosage , Angiogenesis Inhibitors/therapeutic use , Intravitreal Injections , Ranibizumab/therapeutic useABSTRACT
Retinose pigmentar indica um grupo heterogêneo de doenças genéticas oculares raras em que tanto bastonetes quanto cones estão danificados, levando a um prognóstico ruim com eventual perda da visão. Descrevemos o caso de mulher de 22 anos com edema macular recorrente devido à retinose pigmentar. Obteve-se sucesso terapêutico após o tratamento com o implante intravítreo de dexamentasona (Ozurdex®, Allergan,USA).
Retinitis pigmentosa denotes a heterogeneous group of rare genetic diseases in which both rods and cones eye are damaged. It is a disease of poor prognosis. We describe the case of a 22 years old woman successfully treated with intravitreal implant of dexamentasone (OZURDEX®, Allergan, USA) for the treatment of macular edema due to retinitis pigmentosa.
Subject(s)
Female , Humans , Young Adult , Dexamethasone/administration & dosage , Glucocorticoids/administration & dosage , Intravitreal Injections/methods , Macular Edema/drug therapy , Retinitis Pigmentosa/drug therapy , Drug Implants , Macular Edema/etiology , Retinitis Pigmentosa/complications , Time Factors , Treatment Outcome , Visual AcuityABSTRACT
Cistos vítreos são achados raros do segmento posterior ocular. Podem ocorrer em olhos com doenças oculares preexistentes ou em olhos aparentemente normais. Este estudo é um relato de caso de um paciente com retinose pigmentária e cisto vítreo, e descreve sua apresentação clínica e ultrassonográfica.
Vitreous cyst is a rare condition of the posterior segment of the eye. It can occur in eyes with coexistent ocular diseases or in eyes that are otherwise normal. This study reports a case of vitreous cyst in a patient with retinitis pigmentosa and presents its clinical and ultrasonographic features.
Subject(s)
Humans , Male , Middle Aged , Cysts/diagnosis , Retinitis Pigmentosa/diagnosis , Vitreous Body , Cysts/complications , Retinitis Pigmentosa/complications , Visual AcuitySubject(s)
Humans , Retinal Degeneration/etiology , Retinal Degeneration/therapy , Night Blindness/genetics , Night Blindness/etiology , Night Blindness/therapy , Visual Fields , Retinal Vessels/abnormalities , Genetic Therapy/statistics & numerical data , Retinitis Pigmentosa/complications , Photoreceptor CellsABSTRACT
We describe a previously unreported co-existence of retinitis pigmentosa and congenital toxoplasmosis. An eight year old male presented to our center with complaints of decreased night vision. Fundus evaluations in both the eyes demonstrated features typical of retinitis pigmentosa. There were well-defined punched out healed chorio-retinal scars suggestive of congenital toxoplasmosis. On the basis of history, clinical findings and reduction of a and b wave amplitudes on scotopic and photopic electroretinograph, a diagnosis of retinitis pigmentosa with congenital toxoplasmosis was made. Retinitis pigmentosa may co-exist with congenital toxoplasmosis that may affect the patient's overall ocular morbidity and visual acuity.
Subject(s)
Animals , Antibodies, Anti-Idiotypic/immunology , Antibodies, Protozoan/immunology , Child , Diagnosis, Differential , Electroretinography , Humans , Immunoglobulin G/immunology , Male , Retinitis Pigmentosa/complications , Toxoplasma/immunology , Toxoplasmosis, Congenital/complications , Visual AcuityABSTRACT
A 15-year-old girl with retinitis pigmentosa, blepharophimosis, blue dot cataract and primary overaction of inferior oblique muscle in both the eyes is being reported. Computerized search using Medline did not reveal any such previously reported association.
Subject(s)
Adolescent , Blepharophimosis/complications , Cataract/complications , Diagnosis, Differential , Electromyography , Eye Movements/physiology , Female , Humans , Lens, Crystalline/pathology , Ocular Motility Disorders/complications , Retinitis Pigmentosa/complications , Visual AcuityABSTRACT
PURPOSE: To report a case of bilateral spontaneous anterior lens dislocation associated with retinitis pigmentosa (RP). METHODS: A 45-year-old male with RP presented with elevated intraocular pressure (IOP) in the right eye and was treated with laser iridotomy (LI). After LI, complete crystalline lens dislocation into the anterior chamber occurred. Surgical intervention, including anterior vitrectomy, intracapsular cataract extraction (ICCE), and IOL scleral fixation was performed. Two years later, the same episode occurred in his left eye and a similar treatment was done. RESULTS: Surgery was successful in both eyes. CONCLUSIONS: This is the first report of bilateral spontaneous anterior lens dislocation in a RP patient.
Subject(s)
Humans , Male , Middle Aged , Anterior Chamber , Cataract/complications , Cataract Extraction , Electroretinography , Follow-Up Studies , Iris/surgery , Laser Therapy/adverse effects , Lens Implantation, Intraocular/methods , Lens Subluxation/diagnosis , Ocular Hypertension/complications , Retinitis Pigmentosa/complications , Sclera/surgery , Suture Techniques , Visual Fields , VitrectomyABSTRACT
A 45-year-old man with retinitis pigmentosa (RP), who had undergone uneventful extracapsular cataract extraction (ECCE) in his right eye eight years previously, and phacoemulsification in his left eye six years previously, had spontaneously dislocated intraocular lenses (IOL) within the capsular bag in both eyes one month apart. We removed the dislocated IOLs, and performed anterior vitrectomy and scleral fixation of the new IOLs. Mild contraction of the capsular bags and uneven distribution of the zonular remnants' clumps along the equator of the capsules were found by scanning electron microscopic (SEM) examination. In this study, we propose the correlation between RP and zonular weakness. To our knowledge, this is the first case report of bilateral spontaneous dislocation of IOLs within the capsular bag of an RP patient.
Subject(s)
Adult , Humans , Male , Foreign-Body Migration/etiology , Lens Capsule, Crystalline/pathology , Lens Implantation, Intraocular , Lenses, Intraocular , Ligaments/ultrastructure , Microscopy, Electron, Scanning , Phacoemulsification , Reoperation , Retinitis Pigmentosa/complications , VitrectomyABSTRACT
The simultaneous occurrence of nanophthalmos, angle closure glaucoma and pigmentary retinal dystrophy documented in the present case represents a rare syndrome.
Subject(s)
Adult , Female , Fundus Oculi , Glaucoma, Angle-Closure/complications , Humans , Microphthalmos/complications , Photography , Retinitis Pigmentosa/complications , Syndrome , UltrasonographyABSTRACT
Two cases of retinitis pigmentosa (RP) with associated sickle cell disease in one patient, and situs inversus totalis in the other are reported. To our best knowledge, these associations have never been reported in RP.
Subject(s)
Adolescent , Adult , Anemia, Sickle Cell/complications , Dextrocardia/complications , Diagnosis, Differential , Electrocardiography , Electroretinography , Erythrocyte Count , Humans , Male , Pedigree , Radiography, Thoracic , Retina/pathology , Retinitis Pigmentosa/complications , Situs Inversus/complications , Visual FieldsABSTRACT
Se realiza un estudio sobre las afecciones otorrinolaringologicas en 64 pacientes con retinosis pigmentaria que acudieron a la consulta de otorrinolaringologia, procedentes del Centro Provincial de Retinosis Pigmentaria de la provincia de Camagueey. Del total de pacientes estudiados, 38 pertenecian al sexo masculino y 26 al sexo femenino. Se observo que las afecciones nasosinusiales mas frecuentes fueron las desviaciones septales en el 37,37 por ciento de los casos, agenesia del seno frontal en el 7,81 por ciento y la sinusitis maxilar en el 6,25 por ciento. La amigdalitis cronica en el 6,25 por ciento fue la enfermedad de faringe mas frecuente y dentro de las afecciones oticas, las presbiacusia y la enfermedad de Usher en el 14,06 por ciento, fueron las causas mas frecuentes. Los estudios radiograficos del hueso temporal mostraron mastoides diploicas en el 9,53 por ciento y escleroticas en el 5,47 por ciento de los pacientes estudiados. Los pacientes con enfermedad de usher mostraron examen de reclutamiento positivo en el 100 por ciento de los casos
Subject(s)
Humans , Otorhinolaryngologic Diseases/complications , Retinitis Pigmentosa/complicationsABSTRACT
Propósito: Determinar los Síndromes más frecuentes Asociados a Retinosis Pigmentaria en Cuba y señalar algunas de sus características oftalmológicas. Método: Se caracterizaron clínicamente y clasificaron 245 enfermos de RP que compartiendo su cuadro oftalmológico conformaban síndromes complejos asociados. Se estimó su prevalencia y forma de progresión basados en análisis del campo visual y de la agudeza visual, así como también se correlacionaron estos últimos con los hallazgos del examen físico oftalmológico. Resultados: La prevalencia de RP asociada en Cuba fue de un 9,2 por ciento entre la población de enfermos de RP. Predominó la herencia autosómica recesiva en un 72,5 por ciento entre la población de enfermos de RP. Predominó la herencia autosómica recesiva en un 72,6 por ciento de los casos. Los Síndromes de Usher y Bardet-Biedl fueron los más frecuentes con un 64,1 por ciento y 13,9 por ciento, respectivamente. Otros Síndromes encontrados fueron el Kearns Sayre (2,4 por ciento), Strumpell Loraine (2 por ciento), el Rud, Refsum, Marphan y otras degeneraciones del sistema nervioso central que se encontraron en un 17,6 por ciento. Analizados en conjunto, el cuadro de RP sin pigmento se encontró en un 8,9 por ciento. Distintos grados de compromiso macular se determinaron en un 54 por ciento, predominando el edema cistoide y la atrofia epitelial. En un 69,4 por ciento el debut de la enfermedad fue precoz, entre 5 a 10 años de edad y un 75 por ciento de los enfermos estudiados se encontraban en un estadio final de la enfermedad. Conclusiones: La frecuencia de presentación de la RP Asociada en Cuba es ligeramente superior a la reportada en la literatura, así como precoz fue el debut de los síntomas, lo que se debe a la labor de pesquisaje
Subject(s)
Humans , Retinitis Pigmentosa/complications , Cuba , Refsum Disease/complications , Kearns-Sayre Syndrome/complications , Marfan Syndrome/complications , Visual Acuity/physiology , Visual Fields/physiologyABSTRACT
Se estudian 6 generaciones de una familia afectados de retinitis pigmentosa pesquisados a partir de un caso índice. Se analiza su tipo de herencia, signos y síntomas oftalmológicos y estudio electrorretinográfico. Se encuentra una retinitis pigmentosa autosómica dominante. Las características oftalmológicas tienen topografía inicial variada, electrorretinograma ausente y complicaciones oftalmológicas asociadas como catarata y glaucoma. Se observan un cambio en la historia natural de la enfermedad en las últimas generaciones, lo que sugiere una influencia ambiental