Indian Journal of Ophthalmology

CASE REPORT
Year
: 2019  |  Volume : 67  |  Issue : 12  |  Page : 2101--2103

Retinal cafe-au-lait macules: A rare retinal finding in a patient with neurofibromatosis type 1


Ramesh Venkatesh1, Kushagra Jain1, Arpitha Pereira1, Shreya Dass Jain2, Aditya Aseem1, Padmamalini Mahendradas1, Naresh Kumar Yadav1,  
1 Department of Retina-Vitreous, Narayana Nethralaya, Bengaluru, Karnataka, India
2 Department of Retina and Vitreous, Narayana Nethralaya, All Skin Clinic, Indore, Madhya Pradesh, India

Correspondence Address:
Dr. Ramesh Venkatesh
Narayana Nethralaya, 121/C, Chord Road, 1st �R' Block, Rajajinagar, Bengaluru - 560 010, Karnataka
India

Abstract

We report the retinal and choroidal manifestations using multimodal imaging in a patient with Neurofibromatosis type 1 (NF-1). In this report, we describe the occurrence of a new retinal finding which we label as retinal café-au-lait macules. Also, we describe the superiority of multicolour imaging in comparison to colour fundus photography for identifying the retinal manifestations in NF-1.



How to cite this article:
Venkatesh R, Jain K, Pereira A, Jain SD, Aseem A, Mahendradas P, Yadav NK. Retinal cafe-au-lait macules: A rare retinal finding in a patient with neurofibromatosis type 1.Indian J Ophthalmol 2019;67:2101-2103


How to cite this URL:
Venkatesh R, Jain K, Pereira A, Jain SD, Aseem A, Mahendradas P, Yadav NK. Retinal cafe-au-lait macules: A rare retinal finding in a patient with neurofibromatosis type 1. Indian J Ophthalmol [serial online] 2019 [cited 2024 Mar 28 ];67:2101-2103
Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?2019/67/12/2101/271403


Full Text



Neurofibromatosis type 1 (NF-1), also known as Von Recklinghausen disease, is a genetic disease caused by the mutation of the NF1 gene located to chromosome 17q11.2.[1] NF-1 commonly affects the skin and eye. The dermatological manifestations for the diagnosis of NF-1 are the presence of café-au-lait spots, plexiform neurofibromas and axillary or inguinal freckles.[2] Ophthalmic manifestations in NF-1 include the presence of Lisch nodules, plexiform neurofibromas, prominent corneal nerves, choroidal hamartomas, retinal tumours and optic nerve glioma.[2],[3] The fundal lesions mainly the choroidal hamartomas are poorly visible on clinical examination and conventional colour fundus photography (CFP). Multicolour scanning laser imaging (MCI) is a newly introduced innovative, non-invasive, imaging modality developed for Spectralis SD-OCT (Heidelberg Engineering, Heidelberg, Germany). It has been widely used to describe the findings in various retinal and choroidal pathologies.[4] In MCI, three reflectance images of the retina are simultaneously acquired using three individual lasers thereby allowing analysis of changes at various levels within the retina and choroid. The information from these three images are integrated to form a composite multicolour image.[5] Newer imaging modalities like the swept-source optical coherence tomography angiography imaging have been used to describe the choroidal nodules seen in NF-1.[6] In this report, we identify new fundus lesions on the macula, not commonly seen with NF-1 and label them as the retinal café-au-lait macules. In addition, we describe the MCI features of other ophthalmic manifestations seen in NF-1.

 Case Report



A 31-year-old man, diagnosed with NF-1 since many years, was referred for ophthalmic examination. Best-corrected visual acuity was 20/20 in both eyes. The left eye upper lid showed a plexiform neurofibroma. Intraocular pressure was within normal limits in both eyes. Anterior segment examination was normal other than the presence of Lisch nodules [Figure 1]. Dilated fundus examination of the left eye was apparently normal while right eye fundus showed multiple, well-defined, light brown flat lesions temporal to the fovea of variable sizes and pigmentation. The pigmentation was noted at the margin in a few lesions and within the lesion in the rest. The remaining fundus appeared normal. Conventional CFP, fundus autofluoroscence (AF) images and MCI using the 30° scanning protocol was done and macula-centered images were taken. The right eye macular lesions showed increased reflectance and appeared white on blue (BR), green (GR) and infrared (IR) reflectance images and dark on fundus AF. In addition, both eyes IR images showed multiple areas of hyper reflectance located deep underneath the retina and retinal pigment epithelium within the choroid suggestive of choroidal hamartomas. The left eye BR, GR and IR images showed an area of increased reflectance temporal to the fovea suggestive of a small retinal astrocytic hamartoma. Enhanced depth optical coherence tomography imaging (EDI-OCT) was done through the choroidal hamartoma and retinal astrocytoma lesions confirming their presence [Figure 2] and [Figure 3].{Figure 1}{Figure 2}{Figure 3}

 Discussion



NF-1 is caused by the mutations in the NF1 gene which encodes for the tumour suppressor protein, neurofibromin. NF1 gene and neurofibromin have intriguing functions in keratinocytes and melanocytes.[7] Neurofibromin regulates melanin synthesis and keratinocyte differentiation in a currently unknown manner.

Mutation in the NF1 gene causes downregulation of neurofibromin and activation of the Ras-signalling pathway leading to the development of various dermatological and ophthalmic features of NF-1, including café-au-lait spots in the skin.

The lesions seen in the right eye macula are pale, flat and light brown in colour resembling the clinical description of café-au-lait spots noted in the skin in patients with NF-1. Similar looking macular conditions like torpedo maculopathy and amelanotic choroidal nevus were considered as well. However, the clinical features in our case did not correspond with the features described in literature.[8]

Histologically, café-au-lait spots contain increased melanin within the basal keratinocytes without melanocyte proliferation.[9] Increased reflectance seen on BR, GR and IR images and hypo AF seen on fundus AF image corresponding to the lesions seen on CFP and compared to the surrounding retina clearly suggests the increased melanin content within the lesion; similar to what has been described with café-au-lait spots seen in the skin. Hence, we label these lesions as retinal café-au-lait macules. Cotlier reported two cases of NF with mild pigmentary changes in the fundus and described them as café-au-lait spots.[10] In one case, associated retinal hamartomas were present as well. In addition, the orange red lesions seen on multicolour images corroborated well with the white lesions seen on IR images. These lesions were identified as choroidal hamartomas and further confirmed on OCT. Similar findings on MCI in a patient with NF-1 was reported by Kumar et al.[6] A small focus of hyper reflectance on MCI noted in the left eye temporal to the fovea could suggest the presence of abnormal astrocytic cells within the retinal layers. This is identified on the OCT image as well. Both the retinal and choroidal hamartomas, not seen on conventional CFP, were picked up better on MCI.

 Conclusion



Thus, with this report, we find MCI to be a superior imaging modality to conventional CFP in identifying the ophthalmic manifestations of NF-1. Also, we describe a relatively new and uncommon entity called retinal café-au-lait macules in this report.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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