Rare Diseases Symptoms Automatic Extraction

Spectrum of congenital defects of the eye and its adnexia in the pediatric age group; experience at a tertiary facility in Nigeria.

[aniridia]

The aim of this study was to investigate the types and presentation pattern of congenital defects of the eye and adnexia in our center. This is a retrospective review of congenital defects of the eye and adnexia over a 20-month period at a tertiary referral center in Lagos, Nigeria. Records were analyzed for age at presentation, laterality, gender, vision assessment, and type(s) of abnormality. Out of 412 pediatric patients, 40 (9.7 %) were seen to have congenital abnormality of the eye and/or its adnexia during the study period. There were 17 (42.5 %) males. Twelve patients (30.0 %) presented with involvement of the right eyes, nine (22.5 %) with left eyes, while 19 (47.5 %) had bilateral involvement. Twenty-eight patients (70.0 %) were aged 1 year or less at the time of presentation. A total of 69 entities were recognized as some children had two or more malformations. The common congenital defects identified were cataract (39.1 %), ptosis (17.4 %), glaucoma (8.7 %), and cornea opacity (7.2 %). Other less common congenital defects include: microphthalmos, anophthalmos, coloboma (lid and iris), dermoid cyst, and aniridia. All of the patients with available visual acuity documentation had visual impairment. A high proportion of the patients were lost to follow-up. Cataract, ptosis, and glaucoma were the commonest congenital defects of the eye and adnexia in our center and were associated with visual impairments. The significant loss of the patients during follow-up needs urgent investigation and attention to forestall this trend.

Diseases presenting "cataract" symptom

  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • aniridia
  • coats disease
  • cohen syndrome
  • lamellar ichthyosis
  • werner syndrome
  • zellweger syndrome

This symptom has already been validated