RESUMO
PURPOSE OF REVIEW: Retinal disease can manifest with visual symptoms similar to those which result from central nervous system disorders. We provide a framework for considering retinal causes of common visual complaints presenting to a neurology clinic. RECENT FINDINGS: Technological advances have afforded quicker detection and a more thorough understanding of these retinal entities and are crucial to consider when evaluating visual complaints in the neurology clinic. SUMMARY: It is essential to maintain a working knowledge of common retinal conditions that symptomatically overlap with common neurologic conditions. Furthermore, the ophthalmoscopic exam and retinal imaging modalities can both aid in the diagnosis and workup of visual complaints and neurologic disease.
Assuntos
Doenças do Sistema Nervoso/complicações , Neurologia , Doenças Retinianas/etiologia , Técnicas de Diagnóstico Oftalmológico/tendências , Humanos , Imagem Multimodal/métodos , Imagem Multimodal/tendências , Doenças do Sistema Nervoso/diagnóstico , Neurologia/métodos , Neurologia/tendências , Retina/diagnóstico por imagem , Retina/fisiopatologia , Doenças Retinianas/diagnósticoRESUMO
PURPOSE: To present the case of a family with a novel PRPH2/RDS mutation. METHODS: A case report of a 44-year-old woman and her immediate family, including the father and a sister who shared her PRPH2/RDS mutation. RESULTS: A 44-year-old woman presented with examination findings consistent with a butterfly-type pattern dystrophy. A sister had a similar butterfly-type dystrophy, whereas their father had a severe cone-rod dystrophy. Genetic testing revealed the same novel PRPH2/RDS mutation in all three affected individuals, suggesting that this single mutation can produce at least two disparate retinal disease phenotypes. CONCLUSION: This case describes a novel p.Y225X nonsense mutation in the PRPH2/RDS gene and demonstrates that it is both pathologic and capable of significant phenotypic variability.
Assuntos
Doenças Retinianas , Feminino , Humanos , Periferinas/genética , Mutação , Doenças Retinianas/genética , Testes Genéticos , Fenótipo , LinhagemRESUMO
An illuminated microcatheter is frequently used to perform trabeculotomy ab externo in infants with primary congenital glaucoma (PCG). Enlarged corneas in these children can make it challenging to traverse 360o of Schlemm's canal (SC) before reaching the passable limit of the microcatheter. Using basic geometry, we predicted that the iTrack microcatheter would fail to cannulate SC completely in eyes with a horizontal corneal diameter (HCD) >14.8 mm. A retrospective chart review of patients with PCG undergoing angle surgery identified the frequency of corneas with HCD >14.8 mm and confirmed that this calculated cut-off predicts which eyes can-or cannot-be cannulated successfully (ie, 360o) by the iTrack microcatheter.