Abstract
Purpose:
Anophthalmia and microphthalmia (A/M) are rare congenital malformations due to genetic defects, infections or drug exposure during pregnancy. A/M often occurs with other disorders, both ocular and general. Early intervention with ocular prosthesis can stimulate orbital growth and prevent facial asymmetry. The aim of this study was to describe a group of children/young adults with A/M emphasizing on investigation, treatment and follow-up.
Methods:
A review of medical records of 18 individuals (10 females, 8 males) with a mean age of 8.7 years (range 0.8 - 31.8) with A/M treated with ocular prosthesis at Sahlgrenska University Hospital, Gothenburg, Sweden between year 2000 and 2012.
Results:
The median age by diagnosis was 10 days (1-110 days); n=16. In this group of 18 individuals, three have anophthalmia (A) and 15 microphthalmia (M). A majority has other malformations in the A/M eye and eight individuals have findings in the fellow eye. MRI/CT revealed CNS pathology in 2 out of 14 cases. Visual evoked potential (VEP) was performed in seven cases, all pathological. Seven individuals have subnormal visual acuity in the fellow eye, s ix are in contact with vision support services and 15 have a follow-up at an eye clinic. Almost half of the group wears glasses. Eleven individuals have extra ocular findings (i.e. cardiac defects, autism, septo-optic dysplasia, and hearing impairment), which indicate a syndromic condition. Genetic tests (karyotype, array and/or targeted gene analysis) were done in five cases without significant results. Intrauterine varicella infection caused one M. Ocular prosthesis was started at a median age of 7.8 months (22 days-16 years). Treatment with ocular prosthesis was tolerated well, no complication but local irritation in form of redness and secretion were noted; especially when the child had a cold. All, but two were treated locally by antibiotics one or several times. Four children, (A, n=2; M, n=2) had ocular plastic surgery.
Conclusions:
The investigation of A/M children should include MRI of CNS and orbit, ultrasound of the bulb and VEP. The ophthalmologist who makes the diagnosis A/M needs to monitor the visual development of the fellow eye but also initiate treatment with prosthesis, pediatric assessment, hearing test and genetic counseling.
Keywords: 421 anterior segment •
462 clinical (human) or epidemiologic studies: outcomes/complications •
419 anatomy