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Title

A case of maculopathy in Rogers syndrome

Purpose	To highlight the presence of retinal dystrophy in a case of thiamine-responsible megaloblastic anemia.
Methods	case report
Results	A seven-year-old female patient with insulin-dependent diabetes, implanted cochlear deafness and suspicion of Rogers syndrome, presented in the ophthalmology department for low visual acuity. The ophthalmological examination revealed a decreased visual acuity (best corrected visual acuity was 5/10 RLE) and the anterior segment showed no particularities. The posterior pole examination showed an abnormal macular reflection. Mutations in the gene SLC19A2, located on the chromosome 1q23.3 ; confirmed the presence of Rogers syndrome. Spectral domain optical coherence tomography of the left and the right eye revealed an irregularity of the photoreceptor layer compatible with a macular dystrophy. The full-field electroretinogram showed a decrease of the photopic amplitudes and flickers with generally preserved scotopic amplitudes.
Conclusion	The most common ocular involvement in Rogers syndrome are optic atrophy and retinitis pigmentosa. In the case of decreased vision, we should also considered maculopathy. Macular involvement in Rogers syndrome was rarely reported in the literature. We present a case of a young child of seven years-old.
Conflict of interest	No

Authors 1

Last name	SCIFO
Initials	L
Department	CHU Saint-Pierre
City	Bruxelles