BACKGROUND: Maculopathy occurring in young patients is a challenge in differential diagnosis. Besides hereditary macular dystrophies and acquired macular degenerations, rare systemic disorders should be considered. CASE REPORT: A 36 year old female patient complained about a gradually decrease of visual acuity in both eyes and an increasing exotropia of her right eye. Visual acuity was 0.7, the orthoptical status revealed an intermittent exophoria with exclusion of the right eye. Slit lamp examination showed punctate and cristalline lens opacities. In fundus examination and fluorescein angiography clumpy pigment epithelium hypertrophies and atrophies with a reticular character could be observed. Color vision and perimetry were normal; dark visual acuity was reduced. Because of remarkable deformations of jaw and teeth, a high hairline and an uncertain step we arranged a neurological consultation. Clinical observation together with myotonic activities in electromyography and diffuse lesions in the cerebral medular corpus shown in MRT led to the diagnosis of myotonic dystrophy (Curschmann Steinert syndrome). CONCLUSION: Besides hereditary macular dystrophies and acquired macular degenerations the differential diagnosis of maculopathies in young patients also includes systemic disorders. Myotonic dystrophy (Curschmann Steinert syndrome) should be taken into account as a rare cause of a juvenile maculopathy.
BACKGROUND:Maculopathy occurring in young patients is a challenge in differential diagnosis. Besides hereditary macular dystrophies and acquired macular degenerations, rare systemic disorders should be considered. CASE REPORT: A 36 year old female patient complained about a gradually decrease of visual acuity in both eyes and an increasing exotropia of her right eye. Visual acuity was 0.7, the orthoptical status revealed an intermittent exophoria with exclusion of the right eye. Slit lamp examination showed punctate and cristalline lens opacities. In fundus examination and fluorescein angiography clumpy pigment epithelium hypertrophies and atrophies with a reticular character could be observed. Color vision and perimetry were normal; dark visual acuity was reduced. Because of remarkable deformations of jaw and teeth, a high hairline and an uncertain step we arranged a neurological consultation. Clinical observation together with myotonic activities in electromyography and diffuse lesions in the cerebral medular corpus shown in MRT led to the diagnosis of myotonic dystrophy (Curschmann Steinert syndrome). CONCLUSION: Besides hereditary macular dystrophies and acquired macular degenerations the differential diagnosis of maculopathies in young patients also includes systemic disorders. Myotonic dystrophy (Curschmann Steinert syndrome) should be taken into account as a rare cause of a juvenile maculopathy.