[Ocular manifestations of Malan syndrome: a case report]

A 6-year-old male pediatric patient with Malan syndrome presented to the Ningxia Fye Hospital of Ningxia Hui Autonomous Region People's Hospital with low vision in both eyes. The patient had a history of night blindness and exhibited bilateral enophthalmos. Best-corrected visual acuity was 0.2 in both eyes, with no improvement after refractive correction. Both direct and consensual pupillary light reflexes were sluggish. Fundus examination revealed bilateral pale optic discs, with a cup-to-disc ratio of approximately 0.6. Optical coherence tomography revealed marked thinning of the peripapillary retinal nerve fiber layer and the macular ganglion cell and inner plexiform layer in both eyes. The field electroretinogram indicated moderately impaired rod and cone function bilaterally, while the flash visual evoked potential suggested bilateral optic nerve atrophy. These findings indicate that children with Malan syndrome require comprehensive ophthalmic evaluation, routine assessment of the optic nerve status across all age groups, and timely implementation of appropriate interventions to maximize residual visual function and improve quality of life and social adaptability.