Pathologic myopia as a concurrent condition in Pierre Robin sequence: a case report and literature review

Introduction Pierre Robin sequence (PRS) is a rare congenital disorder often associated with multisystem abnormalities, yet cases combined with pathologic myopia and medial upper eyelid entropion with trichiasis in whom no pathogenic genetic variants are detectable are rare. Case presentation This article reports on a 4-year-old male child with syndromic PRS, whose parents verbally stated that no pathogenic variants were identified in previous genetic testing. Since birth, he has undergone multiple surgeries for micrognathia, cleft palate, and secretory otitis media. He presented for ophthalmic evaluation due to high myopia in both eyes. Ocular examinations revealed the following: best-corrected visual acuity (BCVA) was 0.12 in the right eye and 0.1 in the left eye; bilateral medial upper eyelid entropion with trichiasis was observed, accompanied by rough nasal corneal epithelium; the fundus showed tessellated appearance with Grade A2 macular atrophy. The axial length was 31.38 mm in the right eye and 32.13 mm in the left eye, and optical coherence tomography indicated choroidal thinning. The child underwent bilateral posterior scleral reinforcement (PSR). During the 35-month postoperative follow-up, the child underwent second-stage bilateral upper eyelid entropion correction and trialed low-vision aids and acupuncture. Currently, the child's BCVA is 0.3 in the right eye and 0.12 in the left eye while near vision reaches 0.8 at 10 cm with the use of spectacle- mounted near low-vision aids. Axial length growth has slowed compared to pre-operative rates, The rate of axial length growth has slowed compared to the pre-operative period, and the fundus condition remains stable. Conclusion Syndromic PRS can be associated with complex ocular abnormalities. Even in cases where no pathogenic genetic variants are identified, multidisciplinary management is crucial. PSR, entropion correction, and early low vision rehabilitation interventions can effectively improve prognosis. Multidisciplinary collaboration and long-term follow-up are essential components of care.