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A 37-year-old woman presented with progressive visual loss and primary amenorrhoea due to hypogonadotropic hypogonadism since 14 years of age. These symptoms were followed by cerebellar ataxia and lower limb spasticity, leading to wheelchair dependency at the age of 30 years. At examination at the age of 37 years, her vision was reduced to perception of hand motion, thus meeting the criteria of legal blindness (defined as visual acuity <20/400). This progressive visual loss was caused by chorioretinal degeneration as demonstrated by fundoscopy and optical coherence tomography (figure 1). Whereas patellar tendon reflexes were increased, Achilles tendon reflexes were …
Contributors MS: acquisition of data; design and conceptualisation of the study; drafting the manuscript. CK and TBH: acquisition of data; revising the manuscript. LS: conceptualisation and supervision of the study; revising the manuscript.
Competing interests MS received honoraria from Actelion Pharmaceuticals.
Patient consent Obtained.
Ethics approval Ethics Committee of the University of Tübingen, Germany.
Provenance and peer review Not commissioned; externally peer reviewed.