Inherited Retinal Degenerations Masquerading as Age-related Macular Degeneration in Older Adults
Genetic AMD Masquerades
DOI:
https://doi.org/10.62856/djcro.v1i1.24Keywords:
age-related macular degeneration, cone dystrophy, inherited retinal dystrophy, Stargardt diseaseAbstract
Inherited retinal degenerations (IRD) classically present in youth, but may present in older adults. Misdiagnosis as age-related macular degeneration (AMD) can be avoided with appropriate investigations which may alter management and prognosis for some. We describe a retrospective case series of with IRD referred as AMD. An 82-year-old female had a bullseye maculopathy (CRX deletion) and a 72-year-old male had Stargardt disease with biallelic ABCA4 genotype. An index of suspicion in atypical ‘AMD’ cases combined with appropriate clinical and molecular investigations can achieve an IRD diagnosis altering management decisions.
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