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Linear naevus sebaceous syndrome, optic disc staphyloma, and non-rhegmatogenous retinal detachment
  1. Department of Ophthalmology and Eye Hospital, University Erlangen-Nürnberg, Germany
  2. Department of Ophthalmology and Eye Hospital, University of Köln, Germany
  1. Department of Ophthalmology and Eye Hospital, University Erlangen-Nürnberg, Germany
  2. Department of Ophthalmology and Eye Hospital, University of Köln, Germany
  1. Dr J Jonas, Universitäts-Augenklinik, Schwabachanlage 6, 91054 Erlangen, Germany

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Editor,—Linear naevus sebaceous syndrome, with its synonyms Schimmelpenning-Feuerstein-Mims syndrome,1 2 epidermal naevus syndrome, and Solomon syndrome, is a rare congenital and sporadic disorder without known familial aetiology. It includes deformities and dysplasias of the skin, eyes, brain, skeleton, and heart, such as a linear naevus sebaceous Jadassohn, mental retardation, convulsions, asymmetries of the cranial structures and dilated cerebral ventricles ipsilateral to the naevus.1-3 Ocular abnormalities described in patients with Schimmelpenning-Feuerstein-Mims syndrome are microphthalmia, colobomas of the eyelids, large optic nerve heads, and congenital teratomas or dermoids of the conjunctiva and cornea.4-6 The present study reports on an unusual association of Schimmelpenning-Feuerstein-Mims syndrome with an optic disc staphyloma and non-rhegmatogenous retinal detachment.


A 38 year old male patient presented with retinal non-rhegmatogenous detachment extending from the optic disc to the ora serrata in the inferior nasal quadrant of his right eye. With the macula attached, central visual acuity measured 20/33 with a refractive error of −5.0 dioptres. The vitreous was clear with no marked vitreous reaction in the sense of a proliferative vitreoretinopathy. Visual acuity in his left eye was finger counting due to a corneal dermoid extending from the limbus to the centre of the cornea. Ophthalmoscopy of the right eye revealed a staphyloma of the optic nerve head in association with a macrodisc and a pit-like appearance of the nasal region of the optic disc (Fig 1), a parapapillary chorioretinal atrophy at the temporal border of the optic disc, and alterations of the retinal pigment epithelium in the fovea in addition to the retinal detachment. A retinal defect was not found. In the left eye, ophthalmoscopy was not possible owing to the corneal opacification. Sonography of the left eye was unremarkable. General findings included a linear sebaceous naevus and patchy alopecia on the anterior and posterior part of the scalp. There was no family history of consanguinity or birth defects.

Figure 1

Fundus photograph showing the large optic nerve head (area 13.75 mm2) with optic disc staphyloma, a pit-like appearance of the nasal region of the optic disc, and associated non-rhegmatogenous retinal detachment (white arrows).

After retinal detachment surgery including encircling band, transscleral exodrainage of the subretinal fluid, and exocryocoagulation of the retinal periphery in the region of the retinal detachment, the retina attached in the right eye. A retinal defect was not found during surgery. Five days later, the retina redetached again, extending from the inferonasal intrapapillary region of the optic disc to the ora serrata. Again, the vitreous was unremarkable. A second operation was carried out consisting of pars plana vitrectomy including removal of the posterior vitreous surface, temporary instillation of perfluorocarbon liquid, endodrainage of the subretinal fluid through a planned peripheral small retinotomy, and ocular endotamponade by silicone oil. After instillation of the perfluorcarbon liquid, the subretinal fluid was pressed to the fundus periphery without leaking into the vitreous cavity. Endodrainage of the subretinal fluid became possible first after intentionally performing a small peripheral retinotomy to release the subretinal fluid. Four months later, silicone oil was removed. After a follow up period of an additional 3 months, in which visual acuity increased to 20/33, the retina redetached again necessitating a second pars plana vitrectomy with silicone oil endotamponade. Again, a peripheral, central, or paracentral retinal defect was not detected. After additional 12 months, silicone oil was removed leading to a new retinal redetachment, again starting in the intrapapillary nasal inferior region of the optic nerve head. In the following revitrectomy, no retinal defect was found, neither in the periphery nor in the vicinity of the optic disc where the retinal detachment had started each time. During the first operation, a subconjunctival tumour located at the 12 o'clock position close at the limbus in the right eye was removed. Its histological examination showed ectopic lacrimal gland tissue.

This report suggests that an optic nerve head staphyloma with a macrodisc, pit-like appearance of the nasal disc region, and with associated non-rhegmatogenous retinal detachment may be added to the panoply of features of Schimmelpenning-Feuerstein-Mims syndrome. It confirms recent reports on the association of the linear naevus sebaceous syndrome with large optic nerve heads and retinal or choroidal colobomas.6 7 With no retinal defect either in the paracentral region or in the fundus periphery detected, the pathogenesis of the retinal detachment starting in the intrapapillary region of the staphylomatous optic nerve head remains unclear. It might be similar to the pathogenesis of non-rhegmatogenous retinal detachments observed in eyes with optic nerve head pits. The association of the linear naevus sebaceous syndrome with the ectopic lacrimal gland tissue at the limbus confirms a recent report on complex limbal choristomas in the linear naevus sebaceous syndrome.6 7