Congenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome
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Published on: August 9, 2024
Dewang Angmo1, Tanmay Thulkar2, Ekta Shaw2
1Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India dewang45@gmail.com.
Insights
This study reports a rare case of congenital pterygium in an infant with Rubenstein-Taybi syndrome, highlighting the potential role of genetic factors in pterygium development.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- Pterygium is a common conjunctival overgrowth typically affecting adults aged 20-40.
- Congenital pterygium is exceptionally rare, with limited documented cases in medical literature.
- Rubenstein-Taybi syndrome is a genetic disorder associated with various developmental abnormalities.
Observation:
- A case of an infant diagnosed with Rubenstein-Taybi syndrome presented with bilateral nebulo-macular corneal opacity.
- A whitish-pink tissue, identified as congenital pterygium, was observed originating from the nasal bulbar conjunctiva in both eyes.
- The pterygium tissue did not involve the cornea significantly, as indicated by a negative probe test.
Findings:
- The infant exhibited bilateral infero-nasal nebulo-macular corneal opacity measuring 6 × 5 mm.
- Congenital pterygium was diagnosed in conjunction with corneal opacity in this infant with Rubenstein-Taybi syndrome.
- This case adds to the scarce literature on congenital pterygium, with only two prior reports.
Implications:
- The occurrence of congenital pterygium in an infant with a known genetic syndrome suggests a potential genetic etiology for pterygium.
- Further research into genetic factors may elucidate the pathogenesis of pterygium, particularly in its congenital form.
- This case underscores the importance of comprehensive ophthalmological examination in infants with genetic syndromes.
Abstract:
Pterygium is a benign, wing-shaped fibrovascular overgrowth of subconjunctival tissue that can encroach over the cornea. This condition usually occurs in individuals aged 20-40 years but is rarely seen in children. We report a case of an infant with Rubenstein-Taybi syndrome presenting with nebulo-macular corneal opacity and congenital pterygium. On examination under anaesthesia, bilateral infero-nasal nebulo-macular corneal opacity (6 × 5 mm) with a whitish pink tissue originating from nasal bulbar conjunctiva was noticed. The probe test was negative for this tissue. To the best of our knowledge, only two other cases of congenital pterygium have been reported in the literature. The presence of this anomaly supports the hypothesis of genetic factors having a role in the development of pterygium.
