Abstract

SA.15.10

Associated ocular and systemic findings in patients with clinical anophthalmia or microphthalmia

Christina Gerth1, Michael Schittkowski2, Volker Hingst1, Rudolf Guthoff1
1Universitäts-Augenklinik Rostock, 2Abteilung Augenheilkunde, Universitätsmedizin Göttingen, Göttingen

Objective
Clinical anophthalmia or microphthalmia are rare developmental eye malformations, which can be caused by different gene mutations. (Hever et al. Clin Genet 2006) To initiate genotype analysis we investigate the ocular and systemic phenotype in a large patient cohort with unilateral or binocular anophthalmia or microphthalmia.
Methods
Patients with uni- or bilateral anophthalmia or microphthalmia examined at our clinic since 1996 were included in the study. Data collection included: (1) ocular function and phenotype in the other eye in patients with unilateral anophthalmia and microphthalmia, (2) congenital extraocular abnormalities or diseases in all patients, (3) intracerebral abnormalities detected by cerebral magnet resonance imaging (MRI). Data were collected in a retrospective review and as an ongoing prospective study.
Results
85 patients (42 female, 43 male) with unilateral (n= 42) or bilateral (23) anophthalmia or unilateral (n= 17) or bilateral (3) microphthalmia were included so far. Systemic findings/ anomalies were diagnosed in 17/42, 12/23 and 5/17 patients with unilateral or bilateral anophthalmia or unilateral microphthalmia, respectively. Abnormal contralateral eyes were found in 19/42 and 7/17 patients with unilateral anopthalmia or microphthalmia. Most common were iris/ retinal/ choroidal coloboma of different extent. Intracerebral abnormalities were found in 9/28, 10/15, 5/14 and 0/1 patients with available MRIs in patients with unilateral or bilateral anophthalmia or unilateral or bilateral microphthalmia, respectively.
Conclusions
Ocular phenotype in the other eye and systemic anomalies in patients with anophthalmus or microphthalmus can vary from normal to severely abnormal. Intracerebral changes are less common in unilateral anophthalmia or microphthalmia but need to be evaluated for neurological treatment and early developmental support. Phenotype assessment will be important for aimed genotype identification and genotype-phenotype correlation.

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