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Br J Ophthalmol. Apr 2001; 85(4): 424–427.
PMCID: PMC1723940

Retinal dystrophies caused by mutations in RPE65: assessment of visual functions


AIMS—To characterise the disease in patients with mutations in RPE65.
METHODS—Individuals from two families were studied clinically.
RESULTS—13 and 20 year old compound heterozygote individuals from one family with R234X and 1121delA mutations showed nystagmus, macular dystrophy and low contrasted spots in the fundus. Some heterozygotes had macular drusen. A 40 year old compound heterozygote individual from another family with L22P and H68Y mutations had few bone spicule pigment deposits and macular atrophy.
CONCLUSION—Compound heterozygote individuals had severe rod-cone dystrophies featuring few pigment deposits in the fundus, pigment epithelium atrophy, and early involvement of the macula, with variations in severity leading to the diagnosis of Leber's congenital amaurosis or retinitis pigmentosa. Macular drusen in heterozygotes carrying a null allele may reflect the decreased capacity in the RPE65 function.

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Selected References

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Figures and Tables

Figure 1
Pedigree of two families with members affected by either Leber's congenital amaurosis (family 1) or retinitis pigmentosa (family 2). Black symbols indicate clinically affected individuals, open symbols unaffected people. Individuals carrying age related ...
Figure 2
Fundus photographs (A, C, E) and fluorescein angiograms (B, D, F). Right eye of patient III-2 (A, B) and left (C) and right (D) eyes of patient III-3 from family 1, both affected with Leber's congenital amaurosis, exhibit yellowish spots, attenuation ...
Figure 3
Right eye of 47 year old individual II-7 who is heterozygote (1121delA/+) shows many small macular drusen.

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