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Clinical History

61 yo female known for Diabetes x 10 years, otherwise healthy

History of poor vision since very young age (possibly birth), nystagmus and nyctalopia

No family history

Exam and Test Findings

VA 20/400 OU

SLE: PSCC OU

GVF: Constricted to 10 degrees OU

ERG: non detectable 

Fundus/FAF/OCT

Fundus photoFAFOCT

Diagnosis/Review of Findings

Findings consistent with diagnosis of Leber's Congenital Amaurosis 

History of severe visual impairment beginning in early childhood, nystagmus, and undetectable ERG are suggestive of LCA. Other suggestive clinical features would include oculo-digital sign, amaurotic pupils, keratoconus. 

Review of findings

Fundus: Diffuse choroidal sclerosis, vascular attenuation, pigment deposits, and significant atrophic maculopathy. Note that in LCA fundus appearance can vary from severe disease (as in this case) to normal retinal features.

FAF: Maculopathy with diffusely abnormal lipofuscin metabolism

OCT: Significant retinal remodelling with no recognizable IS/OS junction. Globular foveal lesions (not typical).