Ophthalmology Case Reports

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Short Article - Ophthalmology Case Reports (2017) Volume 1, Issue 1

Neurofibromatosis and Ectodermal Dysplasia-Different Perspective.

Anubhav Chauhan1*, Shveta Chauhan2

1Department of Ophthalmology, Dr Yashwant Singh Parmar Govt. Medical College, Nahan, District Sirmour, Himachal Pradesh, India

2Pine Castle, Near Mist Chamber, Khalini, Shimla 171002, Himachal Pradesh, India

*Corresponding Author:
Dr Anubhav Chauhan
Department of Ophthalmology
Himachal Pradesh
E-mail: [email protected]

Accepted date: March 31, 2017

DOI: 10.35841/ophthalmology.1.1.19

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Neurofibromatosis and Ectodermal Dysplasia are two systemic diseases which involve major organs of the human body and require a thorough systemic examination. During the complete evaluation of patients suffering from these diseases, often the ocular and oral examination is missed. Hence, adequate knowledge regarding these diseases need to be shared among various specialties.

A few major ocular involvements in Neurofibromatosis are keratopathy, cataract, intrascleral schwannoma, glaucoma, epiretinal membrane, retinal detachment, retinal macroaneurysm, optic nerve tumors, optic atrophy, refractive errors, strabismus, nystagmus [1], Lisch nodules (Iris hamartomas-these are virtually diagnostic of the disease and over the last few years, they have acquired a definitive role to establish or exclude the diagnosis of neurofibromatosis-type1), ptosis, proptosis, absence of orbital roof, prominent corneal nerves, choroidal hamartomas and glaucoma [2]. Oral and bony involvement in the form of periodontitis, enlarged mandibular foramen, increased coronoid notch and increased bone density is also seen [3].

The reported ophthalmologic manifestations in Ectodermal Dysplasia are strabismus, telecan thus, fused lids at birth, blepharophimosis, entropion, absence of eyelashes, bilateral eyelid cysts, agenesis of lacrimal puncta, dacryocystitis, blepharitis, conjunctivitis, deficient meibomian gland function, dry eye, corneal limbal deficiency, corneal opacity and glaucoma [4] while oral involvement is in the form of anodontia or hypodontia of the primary and/or permanent teeth, hypoplastic conical teeth, and underdevelopment of the alveolar ridges [5].


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