We report a case of peripapillary subretinal neovascular membrane in association with optic disc drusen in a patient with the VACTERL (Vertebral defects, anal atresia, cardiac malformations, tracheoesophageal fistula with atresia, renal anomalies, and limb anomalies) association.
Case report
A 13-year-old girl with the VACTERL association was referred to the ophthalmology department complaining of reduced visual acuity in the left eye for the past 4 weeks and a possible diagnosis of papilloedema. A CT scan of the brain performed by the paediatricians was reported as normal. A lumbar puncture was considered, but a decision was made to refer her to the ophthalmic department for further investigations prior to the lumbar puncture.
On examination, her best-corrected Snellen acuity was 6/5 in the right and 6/18 in the left eye. The anterior segments were clear. Fundoscopy revealed a mildly elevated disc in the right eye. The left eye showed an elevated disc and a surrounding elevated lesion with subretinal exudation and haemorrhage. Extensive spotty and linear peripheral RPE lesions were also noted in the left fundus (Figure 1a). Ultrasound examination showed evidence of buried disc drusen in both eyes. Fundus fluorescein angiography revealed a large peripapillary subretinal neovascular membrane with retinal thickening extending up to the fovea. A diagnosis of a large peripapillary disciform in association with optic disc drusen was made. As the peripapillary disciform was threatening the fovea, it was decided to treat the lesion with argon laser photocoagulation. Follow-up at 2 weeks following treatment revealed an improvement in visual acuity, which was now 6/9–1 with marked resolution of retinal oedema. Fundus fluorescein angiography showed a well-treated peripapillary disciform (Figure 1b), although there was some residual leakage at the temporal disc margin.
Comment
The VACTERL association is a nonrandom association of malformations, which include vertebral anomalies, anal atresia, cardiac malformations, tracheooesophageal fistula, renal anomalies, and limb anomalies. Most cases of the VACTERL association are sporadic, with no recognised teratogen or chromosomal abnormality. However, features of VACTERL association have been reported with distal 13q deletion1 and mitochondrial cytopathy.2 It has been hypothesised that notochord anomalies allow ectopic expression of molecular signals in the developing embryo, and thus lead to VACTERL malformations.3
Ocular associations have very rarely been reported with the VACTERL association. Say et al4 described ophthalmic abnormalities in four patients, which included ptosis, strabismus, cloudy cornea, severe myopia, anisocoria, and heterochromia iridis. Bilateral lacrimal anlage ducts, microphthalmos, anophthalmos, microcornea, optic nerve hypoplasia, nystagmus, and hemifacial microsomia5, 6 are the other ocular abnormalities that have been reported with the VACTERL association.
The present case adds optic disc drusen and a peripapillary subretinal neovascular membrane to the list of ocular associations seen in VACTERL association.
References
Walsh LE, Vance GH, Weaver DD . Distal 13q deletion syndrome and the VACTERL association: case report, literature review, and possible implications. Am J Med Genet 2001; 98 (2): 137–144.
Damian MS, Seibel P, Schachenmayr W et al. VACTERL with the mitochondrial NP 3243 point mutation. Am J Med Genet 1996; 62: 398–403.
Gillick J, Mooney E, Giles S, Bannigan J, Puri P . Notochord anomalies in the adriamycin rat model: a morphologic and molecular basis for the VACTERL association. J Pediatr Surg 2003; 38 (3): 469–473.
Say B, Greenberg D, Harris R et al. The radial dysplasia/imperforate anus/vertebral anomalies syndrome (the VATER association): developmental aspects and eye findings. Acta Paediatr Scand 1977; 66: 233–235.
Harrison AR, Dailey RA, Wobig JL . Bilateral congenital lacrimal anlage ducts (lacrimal fistula) in a patient with the VACTERL association. Ophthal Plast Reconstr Surg 2002; 18 (2): 149–150.
Kiran PS, Dutta S, Narang A, Mukhopadhnyay K . Unusual manifestations of VACTERL association. Indian Pediatr 2003; 40 (2): 162–165.
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Mehta, P., Puri, P. & Talbot, J. Disc drusen and peripapillary subretinal neovascular membrane in a child with the VACTERL association. Eye 20, 847–848 (2006). https://doi.org/10.1038/sj.eye.6702018
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DOI: https://doi.org/10.1038/sj.eye.6702018
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