High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation

作者：Gocho Kiyoko; Akeo Keiichiro; Itoh Naoko; Kameya Shuhei^*; Hayashi Takaaki; Katagiri Satoshi; Gekka Tamaki; Ohkuma Yasuhiro; Tsuneoka Hiroshi; Takahashi Hiroshi

来源：Ophthalmic Surgery Lasers & Imaging Retina, 2016, 47(12): 1115-1126.

DOI：10.3928/23258160-20161130-05

BACKGROUND AND OBJECTIVE: To report the clinical features of Japanese patients at Stage 1 and 2 of central areolar choroidal dystrophy (CACD).
PATIENTS AND METHODS: Five family members had comprehensive ophthalmic examinations including adaptive optics (AO) retinal imaging. Mutation analysis of the PRPH2 gene was performed by Sanger sequencing. The protocol conformed to the tenets of the Declaration of Helsinki and was approved by the institutional review board of The Jikei University School of Medicine.
RESULTS: Four family members had a heterozygous PRPH2 mutation, p. R172Q; however, one member with a mutation did not show any ophthalmological abnormalities. Two patients had mild parafoveal retinal dystrophy and a reduction of cone density determined by AO analysis.
CONCLUSION: The results indicate that the parafoveal cone photoreceptors can be affected even at the early stage of CACD.

• 出版日期2016-12