Evaluation of Photoreceptors in Bietti Crystalline Dystrophy with CYP4V2 Mutations Using Adaptive Optics Scanning Laser Ophthalmoscopy.

Abstract

PURPOSE:

To evaluate photoreceptors in Bietti crystalline dystrophy patients with CYP4V2 mutations using high-resolution images of the macula obtained with adaptive optics scanning laser ophthalmoscopy (AO-SLO).

DESIGN:

Prospective observational case series with comparison to healthy controls.

METHODS:

Seven eyes of 7 Bietti crystalline dystrophy patients with CYP4V2 mutations and 12 normal eyes of 12 age- and axial length-matched healthy volunteers were studied. All participants underwent ophthalmologic examinations and AO-SLO assessments. All patients underwent spectral-domain optical coherence tomography, fundus autofluorescence, Humphrey field analysis, and electroretinography. AO-SLO images were analyzed 0.5 mm and 1.0 mm from the center of the fovea in the superior, inferior, nasal, and temporal quadrants.

RESULTS:

Mean ± standard deviation cone density (cells/mm(2)) 0.5 mm from the center of the fovea was 17,209 ± 2276 in patients and 20 493 ± 2758 in controls, which was statistically different (P = .001); however, mean cone density 1.0 mm from the center of the fovea was 15 685 ± 2302 in patients and 15 705 ± 1848 in controls, which was not statistically different (P = .20). There was no correlation between cone density and mean deviation measured using a Humphrey field analysis or visual acuity in patients.

CONCLUSIONS:

In Bietti crystalline dystrophy patients with CYP4V2 mutations, cone density remained for visual dysfunction by evaluation using high-resolution AO-SLO. These findings support the theory that disorder of the retinal pigment epithelium and the photoreceptors in the patients are the primary and secondary pathologic changes, respectively. This is consistent with results from previous basic studies.

• Authors: Manabu Miyata, Sotaro Ooto, Ken Ogino, Norimoto Gotoh, Satoshi Morooka, Yukiko Makiyama, Tomoko Hasegawa, Masako Sugahara, Masayuki Hata, Kenji Yamashiro, Nagahisa Yoshimura
• Journal: American journal of ophthalmology (Am J Ophthalmol) Vol. 161 Pg. 196-205.e1 (Jan 2016) ISSN: 1879-1891 [Electronic] United States
• PMID: 26521715 (Publication Type: Journal Article, Observational Study, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2016 Elsevier Inc. All rights reserved.

Chemical References

• Cytochrome P-450 Enzyme System
• CYP4V2 protein, human
• Cytochrome P450 Family 4

Topics

• Adult
• Aged
• Aged, 80 and over
• Cell Count
• Corneal Dystrophies, Hereditary (diagnosis, genetics)
• Cytochrome P-450 Enzyme System (genetics)
• Cytochrome P450 Family 4
• Electroretinography
• Female
• Healthy Volunteers
• Humans
• Male
• Middle Aged
• Mutation
• Ophthalmoscopy
• Photoreceptor Cells, Vertebrate (pathology)
• Prospective Studies
• Retinal Diseases (diagnosis, genetics)
• Retinal Pigment Epithelium (pathology)
• Tomography, Optical Coherence
• Visual Field Tests
• Visual Fields (physiology)