Ocular findings in Schimmelpenning–Feuerstein–Mims syndrome

Author:

Mohan Sashwanthi1,Bhambhani Varsha2,Srinivasan Bhaskar2,Ratra Dhanashree1

Affiliation:

1. Department of Vitreoretinal Diseases, Sankara Nethralaya, 41/18, College Road, Chennai, Tamil Nadu, India

2. Department of Cornea and Refractive Surgery, Sankara Nethralaya, 41/18, College Road, Chennai, Tamil Nadu, India

Abstract

Schimmelpenning–Feuerstein–Mims syndrome (SFM), also known as organoid nevus syndrome or linear nevus sebaceous of Jadassohn, is a rare congenital phacomatosis. It includes cutaneous sebaceous nevus along with skeletal, neurological, cardiovascular, and ocular abnormalities. We report a case of a 14-year-old boy with this rare SFM syndrome. We highlight the various ocular features observed in this patient such as epibulbar choristoma, symblepharon, and choroidal osteoma along with the systemic features and discuss the management of each.

Publisher

Medknow

Subject

General Medicine

Reference9 articles.

1. Schimmelpenning syndrome:A case report and literature review;Wang;Pediatr Neonatol,2014

2. The linear naevus sebaceus syndrome;Van de Warrenburg;Clin Neurol Neurosurg,1998

3. Ophthalmic features of the organoid nevus syndrome;Shields;Trans Am Ophthalmol Soc,1996

4. Review of choroidal osteomas;Alameddine;Middle East Afr J Ophthalmol,2014

5. Ocular manifestations of schimmelpenning-feuerstein- mims syndrome-A rare phakomatosis;Rahman;Acta Sci Ophthalmol,2021

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