Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa.
OBJECTIVE
To describe early-onset cystoid macular edema (CME) in a family with retinitis pigmentosa (RP) due to the p.P347L in the rhodopsin gene (RHO).


METHODS
All affected family members, including a 44-year-old mother and four children in their teens (two daughters, 17 and 15 years old, and two sons, 13 and 11 years old), have a mutation of p.P347L in RHO. Funduscopy, Goldmann perimetry, spectral domain optical coherence tomography (SD-OCT) and electroretinogram (ERG) were performed in all affected members to assess the retinal anatomy and function.


RESULTS
The mother had very poor visual acuity of light perception in both eyes, and marked foveal atrophy was observed via SD-OCT. Although the macular appearance in the funduscopy looked unremarkable in the four children, SD-OCT revealed bilateral CME in all the children. The rod response in ERG was extinguished and the cone response was decreased in all children.


CONCLUSIONS
The results present the possibility that CME in RP patients may be associated with a specific genotype such as the p.P347L in RHO. We speculate that the severe visual prognosis of this mutation may be related to early-onset CME, as shown in this family. However, further investigation in more RP patients with this mutation and CME will be needed.
Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
Cinoo
C
Kim
Hum
H
Chung
Hyeong Gon
HG
Yu
D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D005838:Genotype; D006801:Humans; D008269:Macular Edema / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D012243:Rhodopsin / Q000235:genetics*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests
D012243:Rhodopsin