Purpose: To report the case of a patient with Oguchi disease with bilateral macular holes (MHs) and golden tapetal reflex findings before and after vitrectomy and review the related literature.
Case: An 81-year-old man presented to our hospital for right eye surgery for MH. Golden tapetal reflex was observed in both eyes, and Oguchi disease was suspected. Optical coherence tomography showed that the distance between the photoreceptor inner/outer segment and retinal pigment epithelium (RPE) lines were shortened and that both lines were not identifiable in the nasal macula. The MH was closed and the golden tapetal reflex did not disappear postoperatively. One and a half years subsequently, an MH also developed in the left eye, which was closed postoperatively. Five days after the surgery, the left eye developed rhegmatogenous retinal detachment (RRD) that was successfully attached by a second surgery. Thereafter, the reflex disappeared but partially reappeared especially in undetached retina 9 months subsequently. The electroretinography was consistent with that of Oguchi disease, confirmed by a homozygous SAG variant (c.926delA) found in gene analysis.
Conclusions: Observation of the reflex after vitrectomy indicates that it may not be involved in the presence/absence of posterior vitreous and internal limiting membranes. On the other hand, after the second vitrectomy, the reflex disappeared regardless of re-attachment and then partially reappeared, suggesting that only mildly impaired retinal outer and RPE layers by RRD may be associated with reappearance; however, the details of these mechanisms are unknown.
Nippon Ganka Gakkai Zasshi (J Jpn Ophthalmol Soc) 124: 402-409, 2020.