Abstract

P 172

A German family with North Carolina macular dystrophy

Agnes B. Renner1,2, Elke Cropp1, Miriam Doblhofer1, Joachim Wachtlin3
1Augenklinik, Campus Benjamin Franklin, Charité - Universitätsmedizin Berlin, Berlin; 2Augenklinik, Universitätsklinikum Regensburg, 3Augenklinik, Sankt-Gertrauden Krankenhaus, Berlin

Objective
North Carolina Macular Dystrophy (NCMD) is a rare congenital autosomal dominant maculopathy and appears to be completely penetrant. To date, the underlying gene is not identified. The ophthalmoscopic findings are highly variable ranging from few central drusen to severe atrophic macular lesions. We report of a German family with three affected generations.
Methods
The data were retrospectively analyzed. Fundus autofluorescence (FAF) was done with the Heidelberg Retina Angiograph (HRA Classic, Heidelberg Engineering, Germany). Optical coherence tomography was performed with Stratus OCT3 (Carl Zeiss Meditec, Germany). Full-field and multifocal electroretinography (ERG) was done according to the ISCEV standards.
Results
The 4 years old daughter was referred to us with suspected congenital toxoplasmosis. Positive family history and unusual macula lesions led us to examine her mother and grandmother. Grandmother (57 yrs), mother (34 yrs) and daughter, all presented with severe bilateral central lesions but relatively good visual acuity ranging between 0.02 and 0.7. In grandmother and mother, the atrophic lesions were hyperpigmented and deep excavated showing reduced FAF and thinning of the retina. Both women reported that the macula lesions were found in early childhood and diagnosed as congenital toxoplasmosis and treated with antibiotics. The daughter presented with less pigmented central lesions containing subretinal white fibrous tissue. The FAF was reduced. Two years later, central lesions showed only subtle changes of the pigmentation in the daughter. The grandmother reported of unchanged visual function since childhood. The mother presented with large central scotoma in both eyes, amplitude reduction in full-field and multifocal ERG and reported of visual loss several years ago. Severe macular lesions but relatively good and stable visual acuity in three generations of a family led us to the diagnosis NCMD.
Conclusions
NCMD can be misdiagnosed as congenital toxoplasmosis in case of hyperpigmented atrophic macular lesions. Family history and examination and including NCMD as a possible differential diagnosis can avoid misdiagnosis and an unnecessary antibiotic treatment with possible side effects.

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