Optical coherence tomography and electro-oculogram abnormalities in X-linked retinitis pigmentosa.
OBJECTIVE
To determine the correlations between morphological optical coherence tomography (OCT) and electrophysiological electro-oculogram (EOG) alterations in families with X-linked retinitis pigmentosa (XLRP).


METHODS
Observational case series.


METHODS
About 32 eyes of 16 members of four different families: Seven obligate carriers, four affected male homozygotes and five unaffected females underwent ophthalmologic completed exams including EOG and OCT. All the subjects were previously tested with genetic analysis. The results were statistically analysed.


RESULTS
The abnormalities in OCT were detected in all carriers and affected males consisting of macular edema and increased RPE reflectivity compared to no alterations in unaffected females. The EOG was flat in all affected males; distinctly abnormal in eight eyes of obligate carriers; normal in two eyes of obligate carriers and in all unaffected females. In two obligate carriers, the EOG was not performed due to a nuclear cataract. The correlations between OCT and EOG alterations were statistically significant.


CONCLUSIONS
The OCT and EOG were demonstrated to be useful methods to identify the minimal alterations in carriers of X-linked retinitis pigmentosa.
Vingolo
Enzo Maria
EM
Department of Ophthalmology, Inherited Retinal Diseases Unit, Via Dandini 5, 00154, Rome, Italy. evingolo@rdn.it
Livani
Maria Luisa
ML
Domanico
D
D
Mendonça
Regina H F
RH
Rispoli
Eduardo
E
D004585:Electrooculography; D004594:Electrophysiology / Q000379:methods; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D012160:Retina / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000503:physiopathology; D041623:Tomography, Optical Coherence