研究目的
Investigating the progressive visual loss, increased glare sensitivity, and color sense disorder in a 53-year-old patient to diagnose cone dystrophy using macular OCT and multifocal ERG.
研究成果
The study concludes that in cases of unexplained visual loss without obvious ophthalmologic findings, comprehensive diagnostic testing including OCT and mfERG is crucial for diagnosing cone dystrophy. Despite advanced imaging and electrophysiology, molecular genetic confirmation may not always be possible, highlighting the challenges in diagnosing rare retinal dystrophies.
研究不足
The study is limited by being a single case report, which may not be generalizable. Additionally, molecular genetic testing did not confirm the diagnosis, indicating potential limitations in current genetic testing methodologies for rare retinal dystrophies.
1：Experimental Design and Method Selection:
The study utilized optical coherence tomography (OCT) and multifocal electroretinogram (mfERG) for diagnostic investigation.
2：Sample Selection and Data Sources:
A single case study of a 53-year-old male patient presenting with progressive visual loss and other symptoms.
3：List of Experimental Equipment and Materials:
OCT for macular thickness mapping, mfERG for retinal function assessment, Goldmann visual field test, Ishihara color plates for color vision testing.
4：Experimental Procedures and Operational Workflow:
Comprehensive ophthalmologic examination including visual acuity testing, intraocular pressure measurement, slit-lamp microscopy, fundus examination, OCT, mfERG, visual field testing, and color vision testing.
5：Data Analysis Methods:
Qualitative analysis of OCT and mfERG results to assess retinal structure and function.
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