Ocular manifestations in neurofibromatosis: A case series

Nikita Nijhawan 1, *, Jayashree S Shah 2, Niveditha RK 3 and Lokesha HM 4

1 Postgraduate Department of Ophthalmology, Sri Siddhartha Medical College and Research Centre, Tumkur, Sri Siddhartha Academy of Higher Education, Tumkur, Karnataka, India.
2, Professor and Head Department of Ophthalmology, Sri Siddhartha Medical College and Research Centre, Tumkur, Sri Siddhartha Academy of Higher Education, Tumkur, Karnataka, India.
3 Assistant professor, Department of Ophthalmology, Sri Siddhartha Medical College and Research Centre, Tumkur, Sri Siddhartha Academy of Higher Education, Tumkur, Karnataka, India.
4 Professor, Sri Siddhartha Medical College and Research Centre, Tumkur, Sri Siddhartha Academy of Higher Education, Tumkur, Karnataka, India.
 
Research Article
International Journal of Science and Research Archive, 2024, 13(01), 2994–3000.
Article DOI: 10.30574/ijsra.2024.13.1.2008
Publication history: 
Received on 11 September 2024 ; revised on 20 October 2024; accepted on 22 October 2024
 
Abstract: 
Background: A collection of inherited diseases known as neurofibromatosis (NF) are distinguished by a broad spectrum of clinical manifestations. A genetic mutation on chromosome 17 (17q11.2) is the cause of NF type 1 (NF1), whereas a mutation on chromosome 22 (22q12.2) is the cause of NF type 2 (NF2). In NF1, ocular symptoms are more frequent. Patients with NF1 commonly appear with globe enlargement, glaucoma, and orbital facial involvement. Palpebral neurofibromas have the potential to grow extensively and, in rare instances, develop into malignant tumors. Optic nerve gliomas can result in strabismus and proptosis. Up to 80% of patients with NF2 may experience early-onset cataracts, optic nerve hamartomas, and mixed pigment retinal and epithelial hamartomas.
Case presentation: We present four cases of neurofibromatosis, each displaying typical clinical features of the disorder.
·         Case 1: A 28-year-old male presented with headaches, reduced vision, and multiple tiny discolorations in both eyes for six months. Examination revealed multiple hyperpigmented skin lesions (2-5 mm) across his body, and ocular assessment showed normal pupillary reactions and distant vision of 6/6 in both eyes. Slit-lamp examination identified multiple dome-shaped lesions on the iris, consistent with Lisch nodules.
·         Case 2: A 42-year-old female experienced reduced vision for six months and skin lesions for five years. Examination revealed multiple discrete skin-colored papules and café-au-lait macules on her hands. Her vision was 6/12 in both eyes, with normal pupillary reactions. Slit-lamp findings were also consistent with Lisch nodules.
o    Case 3: A 48-year-old male reported vision loss in both eyes over two months, accompanied by swelling of the right upper eyelid, which was increasing in size. Lisch nodules were found on the iris of the left eye, and he was diagnosed with typical NF.
o    Case 4: A 38-year-old male presented with diminished vision. Slit-lamp examination revealed multiple dome-shaped lesions on the iris, suggesting Lisch nodules, along with skin lesions on the face and other body areas
Conclusion:  Managing neurofibromatosis requires a multidisciplinary approach, involving close collaboration between healthcare providers. Monitoring visual prognosis, enrolling patients in clinical trials, and regular disease monitoring are essential steps in managing the condition.
 
Keywords: 
Neurofibromatosis; Lisch nodules; Café-au-lait macules; Chromosome 17 [17q 11.2]; Chromosome 22 [22q 12.2] 
 
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