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. 2024 Nov 1;44(11):2035-2039.
doi: 10.1097/IAE.0000000000004149.

DIAGNOSTIC AND THERAPEUTIC CHALLENGES

Landon J Rohowetz, Janet L Davis, Siying Lin, Andrew R Webster, Omar A Mahroo

DIAGNOSTIC AND THERAPEUTIC CHALLENGES

Landon J Rohowetz et al. Retina. .

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.

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References

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