Ophthalmic manifestations in Rothmund–Thomson syndrome: Case report and review of literature

Abstract

A 24-year-old male patient presented to us with diminution of vision in both eyes with watering and photophobia for the past 8 years. General physical examination showed short stature and poikiloderma. Ocular findings include photophobia with reflex tearing, dry eye, cicatricial ectropion, symblepharon approaching pupillary area of cornea, and multiple superficial punctuate erosions on the cornea. Both eyelids showed scanty meibomian glands on infrared meibography. The rest of the anterior and posterior segment was normal. The patient was treated with topical lubricants which reduced photophobia and corneal erosions. He then underwent symblepharon release with buccal mucosal grafting, which improved ectropion. Patient improved symptomatically with reduction of photophobia and improvement in vision as well.

Protective Mechanisms Against DNA Replication Stress in the Nervous System

“…Rothmund-Thomson syndrome (OMIM 268400) is a very rare recessive autosomal disease [151]. Clinical manifestations of the syndrome include skin depigmentation, hypogonadism, alopecia, short stature, juvenile cataracts, microphthalmia, microcornea, glaucoma, cognitive deficits, and, eventually, cerebral atrophy [152,153]. A high predisposition to neoplasias-specially, osteosarcoma-was also reported [154] ( Table 1).…”