1. Clinical Features of Japanese Patients With Anti-α-enolase Antibody–Positive Autoimmune Retinopathy: Novel Subtype of Multiple Drusen
- Author
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Yosuke Nakamura, Shuichiro Eguchi, Wataru Saito, Kaoru Fujinami, Kei Shinoda, Michitaka Sugahara, Ryo Ando, Susumu Ishida, Satoru Kase, Atsuhiro Kanda, Shohei Mori, and Kousuke Noda
- Subjects
Adult ,Male ,Retinal degeneration ,medicine.medical_specialty ,Visual acuity ,Adolescent ,genetic structures ,Retinal Drusen ,Fundus (eye) ,Drusen ,Carbonic Anhydrase II ,Autoimmune retinopathy ,Autoimmune Diseases ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Japan ,Ophthalmology ,Electroretinography ,Recoverin ,medicine ,Humans ,Aged ,Retrospective Studies ,Aged, 80 and over ,Retinal pigment epithelium ,medicine.diagnostic_test ,business.industry ,Middle Aged ,medicine.disease ,Immunohistochemistry ,eye diseases ,medicine.anatomical_structure ,Phosphopyruvate Hydratase ,030221 ophthalmology & optometry ,Female ,sense organs ,medicine.symptom ,business ,Erg ,Tomography, Optical Coherence ,030217 neurology & neurosurgery - Abstract
Purpose To evaluate clinical features of Japanese patients with anti-α-enolase antibody–positive autoimmune retinopathy (anti-enolase AIR). Design Multicenter retrospective observational case series. Methods Forty-nine eyes of 25 Japanese anti-enolase AIR patients (16 female and 9 male; mean age at first visit, 60.8 years) were included. Fundus characteristics, perimetry, spectral-domain optical coherence tomography (SD-OCT), electroretinography (ERG), best-corrected visual acuity (BCVA), and complicating systemic tumors were assessed. Protein localization of α-enolase was examined by immunohistochemistry in an enucleated eye of 1 patient. Results Patients were classified into 3 groups: multiple drusen (48%), retinal degeneration (36%), and normal fundus (16%). Drusen varied in size from small deposits to vitelliform-like lesions. Images on SD-OCT revealed dome-shaped hyperreflectivity beneath the retinal pigment epithelium (RPE), corresponding to drusen. Perimetry showed that ring scotoma was the most frequent (39%). Rod-system and/or single-flash cone responses revealed decreased responses in 81% of the eyes. Combined rod and cone system responses demonstrated significantly lower a-wave amplitudes in the degeneration group than in the drusen group (P = .005). BCVA was improved or maintained in 80% of the eyes during follow-up. Malignant or benign tumors were detected in 30% of patients. The RPE and photoreceptor layers were immunopositive for α-enolase. Conclusions The drusen subtype, scarcely described in the literature, is suggested to characterize Japanese patients with anti-enolase AIR. The different funduscopic features with different functional severities may have resulted from antibody-mediated damage to RPE as well as photoreceptor cells.
- Published
- 2018
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