Abstract
Purpose
To report a case of bilateral congenital optic disc coloboma associated with the right seventh and eighth cranial nerve palsy.
Case Summary
A female neonate with right facial palsy (seventh cranial nerve palsy) and right earlobe hypoplasia was referred for examination for retinopathy of prematurity (ROP). Bilateral optic disc coloboma and peripapillary choroidal defect was detected on the fundus examination and the anterior segment examination revealed no specific findings. On the otolaryngologic examination, laryngomalacia and floppy epiglottis were observed and left otitis media and mastoiditis were noted on the temporal bone computed tomography (CT). On the auditory brain stem response (ABR), right electro-potential was not detected and right cochlear nerve palsy (eighth cranial nerve palsy) was diagnosed. Further chromosomal analysis and brain magnetic resonance imaging (MRI) revealed no abnormal findings. However, on echocardiography, an atrial septal defect was detected and on upper gastrointestinal series, gastroesophageal reflux disease (GERD) was diagnosed.
References
1. Mann I. Developmental Abnormalities of the Eye. 2nd ed.Philadelphia, PA: JB Lippincott;1957. p. 74–91.
2. Duvall J, Miller SL, Cheatle E, Tso MO. Histopathologic study of ocular changes in a syndrome of multiple congenital anomalies. Am J Ophthalmol. 1987; 103:701–5.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
3. Yamashita T, Kawano K, Ohba N. Autosomal dominantly inherited optic nerve coloboma. Ophthalmic Paediatr Genet. 1988; 9:17–24.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
4. Schimmenti LA, Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet. 2003; 24:191–202.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
5. Chung GW, Edwards AO, Schimmenti LA, et al. Renal-coloboma syndrome: report of a novel PAX2 gene mutation. Am J Ophthalmol. 2001; 132:910–4.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
6. Salomon R, Tellier AL, Attie-Bitach T, et al. PAX2 mutations in oligomeganephronia. Kidney Int. 2001; 59:457–62.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
7. Eccles MR, Schimmenti LA. Renal-coloboma syndrome: a multi- system developmental disorder caused by PAX2 mutations. Clin Genet. 1999; 56:1–9.
10. Pollock S. The morning glory disc anomaly: contractile movement, classification and embryogenesis. Doc Ophthalmol. 1987; 65. 439–60.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
11. Brodsky MC. Congenital anomalies of the optic disc. Miller NR, Newman NG, editors. Walsh & Hoyt's Clinical Neuroophthalmology. 5th ed.Baltimore, MO: Williams & Wilkins;1998. chap. 18.
12. Olsen TW, Summers CG, Knobloch WH. Predicting visual acuity in children with colobomas involving the optic nerve. J Pediatr Ophthalmol Strabismus. 1996; 33:47–51.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
13. Moore M, Salles D, Jampol LM. Progressive optic nerve cupping and neural rim decrease in a patient with bilateral autosomal dominant optic nerve colobomas. Am J Ophthalmol. 2000; 129:517–20.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
14. Hahn KS, Chae BS, Kim JH, Kim SM. A Case of Coloboma of the optic nerve disk. J Korean Opthalmol Soc. 1969; 10:2:21–2.
15. Lee CY, Kim JH, Shin HH. A Case of Congenital Coloboma of Optic Nerve Head. J Korean Opthalmol Soc. 1982; 23:853–6.
16. Asano Y, Minagawa K, Okuda A, et al. A case of Walker-Warburg syndrome. Brain Dev. 2000; 22:454–7.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
17. Sacoor MF, Motswaledi MH. Three cases of focal dermal hypoplasia (Goltz syndrome). Clin Exp Dermatol. 2005; 30:735–7.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
20. Strömland K, Miller M, Sjögreen L, et al. Oculo-auriculovertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A. 2007; 15:1317–25.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
21. Engiz O, Balci S, Unsal M, et al. 31 cases with oculoauriculover-tebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings. Genet Couns. 2007; 18:277–88.
22. Menascu S, Donner EJ. Linear nevus sebaceous syndrome: case reports and review of the literature. Pediatr Neurol. 2008; 38:207–10.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
23. Lalani SR, Safiullah AM, Fernbach SD, et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006; 78:303–14.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)
24. Jongmans MC, Admiraal RJ, van der Donk KP, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006; 43:306–14.
![crossref](/image/icon/bnr_ref_cross.gif)
![crossref](/image/icon/bnr_ref_cross.gif)