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1.
Arq. bras. oftalmol ; Arq. bras. oftalmol;83(6): 473-477, Nov.-Dec. 2020. tab, graf
Artículo en Inglés | LILACS | ID: biblio-1153078

RESUMEN

ABSTRACT Purpose: To describe the findings on optical coherence tomography angiography associated with Alport syndrome. Methods: Descriptive study from a referral ophthalmology service (Hospital Evangélico de Vila Velha, Brazil). Patients diagnosed with Alport syndrome were included. Results: The study group consisted of four patients (one female and three males) diagnosed with Alport syndrome. Visual acuity in the worst eye was between 20/40 and 20/60. All male patients had anterior lenticonus on biomicroscopy. The observed retinal findings included dots and flecks and pigmentary changes in the macula. On optical coherence tomography angiography, the inner retinal layers of all patients displayed thinning (especially in the temporal quadrant of the macula) and an increase in the foveal avascular zone. A thick choroid was observed in both eyes of the two youngest patients. Conclusions: In patients with Alport syndrome, the inner retinal layers suffer changes due to type IV collagen mutations. Optical coherence tomography angiography makes it possible to visualize and document these findings, making it a useful tool in the detection of early retinal findings associated with Alport syndrome.


RESUMO Objetivos: Descrever os achados na angiografia por tomografia de coerência óptica associada à síndrome de Alport. Métodos: Estudo descritivo de um serviço de referência em Oftalmologia (Hospital Evangélico de Vila Velha, Brasil). Os pacientes diagnosticados com síndrome de Alport, foram incluídos. Resultados: O grupo de estudo foi composto por quatro pacientes (um feminino e três homens) com diagnóstico de síndrome de Alport. A acuidade visual no pior olho estava entre 20/40 a 20/60. Todos os pacientes do sexo masculino apresentaram lenticone anterior à biomiscroscopia. Os achados da retina observados incluíram pontos e manchas e alterações pigmentares na mácula. Na angiotomografia de coerência óptica, as camadas internas da retina de todos os pacientes apresentaram afinamento (especialmente na região temporal da mácula) e aumento da zona avascular foveal. Uma coroide espessa foi observada em ambos os olhos dos dois pacientes mais jovens. Conclusões: Em pacientes com síndrome de Alport, as camadas internas da retina sofrem alterações devido à mutação do colágeno tipo IV. A angiotomografia de coerência óptica permite visualizar esses achados, tornando-o uma ferramenta útil na detecção de achados iniciais da retina associados à síndrome de Alport.


Asunto(s)
Humanos , Masculino , Femenino , Mácula Lútea , Nefritis Hereditaria , Vasos Retinianos , Brasil , Angiografía con Fluoresceína , Tomografía de Coherencia Óptica , Nefritis Hereditaria/diagnóstico por imagen
2.
Arq Bras Oftalmol ; 83(6): 473-477, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33470273

RESUMEN

PURPOSE: To describe the findings on optical coherence tomography angiography associated with Alport syndrome. METHODS: Descriptive study from a referral ophthalmology service (Hospital Evangélico de Vila Velha, Brazil). Patients diagnosed with Alport syndrome were included. RESULTS: The study group consisted of four patients (one female and three males) diagnosed with Alport syndrome. Visual acuity in the worst eye was between 20/40 and 20/60. All male patients had anterior lenticonus on biomicroscopy. The observed retinal findings included dots and flecks and pigmentary changes in the macula. On optical coherence tomography angiography, the inner retinal layers of all patients displayed thinning (especially in the temporal quadrant of the macula) and an increase in the foveal avascular zone. A thick choroid was observed in both eyes of the two youngest patients. CONCLUSIONS: In patients with Alport syndrome, the inner retinal layers suffer changes due to type IV collagen mutations. Optical coherence tomography angiography makes it possible to visualize and document these findings, making it a useful tool in the detection of early retinal findings associated with Alport syndrome.


Asunto(s)
Mácula Lútea , Nefritis Hereditaria , Brasil , Femenino , Angiografía con Fluoresceína , Humanos , Masculino , Nefritis Hereditaria/diagnóstico por imagen , Vasos Retinianos , Tomografía de Coherencia Óptica
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