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Review
. 2018 Apr;39(2):271-274.
doi: 10.1080/13816810.2017.1408850. Epub 2017 Dec 4.

Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature

Mohsin H Ali  1 , Nathalie F Azar  1 , Vinay Aakalu  1 , Felix Y Chau  1 , Javaneh Abbasian  1 , Pete Setabutr  1 , Irene H Maumenee  1
Affiliations
Review

Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature

Mohsin H Ali et al. Ophthalmic Genet. 2018 Apr.

Abstract

Background: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients.

Materials/methods: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography. In addition, we review the literature on ocular manifestations of Wolf-Hirschhorn syndrome.

Results: Microarray analysis revealed an unbalanced translocation between 4p16.3-15.3 and Xp22.33-p22.2. Systemic findings included "Greek warrior helmet" facies, hypotonia, cleft palate, neonatal tooth eruption, talipes equinovarus, bilateral clinodactyly, clitoromegaly, partial agenesis of the corpus callosum, bilateral renal hypoplasia, and two atrial septal defects. Ocular findings included normal intraocular pressures and corneal diameters, large-angle exotropia, downward slanting of the palpebral fissures, absent eyelid creases, upper and lower eyelid retraction with shortage of the anterior eyelid lamellae, euryblepharon, lagophthalmos with poor Bell's reflex and exposure keratopathy, hypertelorism, Axenfeld's anomaly, megalopapillae, and cavitary optic disc anomaly.

Conclusions: We describe the ocular phenotype of a patient with Wolf-Hirschhorn syndrome, including the rare descriptions and photographs of Axenfeld's anomaly, megalopapilla, and cavitary optic disc anomaly in this condition.

Keywords: Axenfeld anomaly; Wolf-Hirschhorn syndrome; cavitary optic disc anomaly; megalopapilla.

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Conflict of interest statement

Declaration of Interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Figures

Figure 1
Figure 1
External photograph showing bilateral downward slanting palpebral fissures, hypertelorism, bilateral lateral upper eyelid colobomas, bilateral congenital blepharoptosis, and bilateral absent eyelid creases.
Figure 2
Figure 2
External photograph (A) showing an externally visible, circumferential posterior embryotoxon. This finding was present bilaterally. RetCam-assisted examination of the iridocorneal angle (B) revealed prominent iris processes that extended across the iridocorneal angle to an anteriorly displaced Schwalbe line (posterior embryotoxon). This finding was present in all visualized quadrants of both eyes.
Figure 3
Figure 3
Fundus photographs of the right (A) and left (B) eyes revealing bilateral megalopapilla and congenital cavitary optic disc anomaly.
See this image and copyright information in PMC

References

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