DIAGNOSTIC AND THERAPEUTIC CHALLENGES.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 39436304.
- Also identified by DOI 10.1097/IAE.0000000000004149 and PMC identifier 11496762.
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Abstract
A 61-year-old woman had worsening vision for 12 years associated with progressive patchy macular chorioretinal atrophy. There was latent tuberculosis and angioid streaks. Testing revealed a pathogenic variant of PRPH2 and a heterozygous ABCC6 variant. Her complex presentation was attributed to PRPH2, which can produce autosomal dominant retinal degeneration.