Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.

Abstract

PURPOSE:

To present phenotypic features of 22 patients with S-antigen (SAG) mutations.

DESIGN:

Retrospective cohort study.

PARTICIPANTS:

Twenty-one Japanese patients from 16 families with a homozygous c.924delA mutation and 1 patient with a homozygous c.636delT mutation in the SAG gene.

METHODS:

Clinical records on symptoms; best-corrected visual acuity; and Goldmann perimetry, fundus photography, fundus autofluorescence (FAF), OCT, and electroretinography results were reviewed.

MAIN OUTCOME MEASURES:

Best-corrected visual acuity, Goldmann perimetry results, imaging findings, and electroretinography results.

RESULTS:

Ten patients had Oguchi disease and 12 had retinitis pigmentosa (RP) with mean follow-up periods of 13.8 and 10.2 years, respectively. Retinitis pigmentosa patients were older (mean age, 56.0 years) than those with Oguchi disease (mean age, 22.1 years; P < 0.001) at the initial visit. Night blindness noted in childhood was the most common initial symptom for both Oguchi disease (80.0%) and RP (91.7%) patients. Best-corrected visual acuity in the logarithm of the minimum angle of resolution (logMAR) was well preserved in Oguchi disease patients (mean, 0.02 logMAR in both eyes) but reduced in most RP patients (mean, 1.32 logMAR [right eye] and 1.35 logMAR [left eye]). Similarly, the visual field in the retinal area was preserved in Oguchi disease patients (mean, 677 mm2 right eye and 667 mm2 left eye) and reduced in RP patients (mean, 369 mm2 right eye and 294 mm2 left eye). Fundus images revealed a characteristic golden sheen with no retinal degeneration in Oguchi disease patients, excluding 2 with macular degeneration detected by FAF, OCT, or both and 1 with mild retinal degeneration confirmed by OCT and fluorescein angiography. Pigmentary retinal degeneration most evident posteriorly was observed in RP patients, accompanied by a characteristic golden sheen in 12 of 14 patients undergoing ultra-widefield fundus imaging. OCT showed disrupted macular structure, and FAF revealed variable hypofluorescence. Electroretinography identified absent rod responses in both diseases, along with relative preservation of cone responses in Oguchi disease patients. Three patients showed progressive loss of the golden sheen based on fundus images, including 1 who demonstrated RP 26 years after the initial diagnosis of Oguchi disease.

CONCLUSIONS:

Retinitis pigmentosa with SAG mutations often shows a characteristic golden sheen surrounding posterior pigmentary retinal degeneration. Oguchi disease can show progressive degeneration in adulthood, rarely resulting in RP.

• Authors: Koji M Nishiguchi, Yasuhiro Ikeda, Kosuke Fujita, Hiroshi Kunikata, Makoto Akiho, Kazuki Hashimoto, Katsuhiro Hosono, Kentaro Kurata, Yoshito Koyanagi, Masato Akiyama, Takefumi Suzuki, Ryo Kawasaki, Yuko Wada, Yoshihiro Hotta, Koh-Hei Sonoda, Akira Murakami, Mitsuru Nakazawa, Toru Nakazawa, Toshiaki Abe
• Journal: Ophthalmology (Ophthalmology) Vol. 126 Issue 11 Pg. 1557-1566 (11 2019) ISSN: 1549-4713 [Electronic] United States
• PMID: 31257036 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2019 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Chemical References

• Arrestin

Topics

• Adolescent
• Adult
• Aged
• Arrestin (genetics)
• Child
• Child, Preschool
• Electroretinography
• Eye Diseases, Hereditary (diagnosis, genetics, physiopathology)
• Female
• Follow-Up Studies
• Humans
• Male
• Middle Aged
• Mutation
• Night Blindness (diagnosis, genetics, physiopathology)
• Phenotype
• Retina (physiopathology)
• Retinitis Pigmentosa (diagnosis, genetics, physiopathology)
• Retrospective Studies
• Tomography, Optical Coherence
• Visual Acuity (physiology)
• Visual Field Tests
• Visual Fields (physiology)