Overlooked Morgagnian Cataract in a Japanese Patient with Oculocutaneous Albinism: A Case Report

抄録

Introduction: Oculocutaneous albinism (OCA) is an inherited disorder of melanin deficiency in the skin, hair, and eyes, associated with tyrosinase gene mutations. We report that congenital amblyopia caused by this disease may prevent early detection of vision loss due to treatable cataracts.

Case presentation: A 55-year-old Japanese woman with a history of OCA presented with progressive bilateral vision loss. Ophthalmologic assessment indicated best-corrected visual acuity of hand motion in the right eye and 0.03 in the left eye, along with pronounced bilateral nystagmus. Slit-lamp examination revealed a Morgagnian cataract in the right eye. Under general anesthesia, bilateral cataract surgery was performed. Phacoemulsification and in-the-bag lens fixation were performed in the left eye, whereas intrascleral lens fixation was required in the right eye due to weak zonules. Although the best-corrected visual acuity modestly improved to 0.15 in both eyes after three months, the patient reported subjective visual function improvements in both eyes.

Conclusion: This case highlights the importance of regular, detailed eye examinations for patients with albinism, to prevent delayed diagnoses of treatable conditions.