Dr. Deepa John, J11405, Femi K Sam, Sheeja John
Ocular associations in Neurofibromatosis II (NF2) are lisch nodules, posterior subcapsular cataract, epiretinal membrane, combined hamartomata of retina and retinal pigment epithelium (CHRRPE) and optic disc glioma. Loss of heterozygosity for the NF-2 gene has been demonstrated in dysplastic or hamartomatous lesions of the retina and optic disc.
Case Report : A 20 year old male with seizures, left vestibular schwanomma and sensorineural hearing loss presented with decreased vision since 2 years of age. Vision in right eye was 2/60 and left eye 6/36. He had nystagmus, bilateral cataract and hyperpigmented retinal lesions at macula. He had been diagnosed and treated at multiple centres as ocular toxoplasmosis. A detailed fundus examination and OCT confirmed CHRRPE in association with NF2.
Conclusion :Though only a few cases of CHRRPE have been reported with NF2, hyperpigmented retinal lesions along with systemic features suggestive of NF2 should arouse its suspicion.