Ocular gamut of neurofibromatosis type 1
Background: Neurofibromatosis type 1 (NF1) is a multi-system autosomal dominant disorder affecting 1 in 3000 individuals. The diagnostic criteria of NF1 includes ocular manifestations. Objective: To study the ophthalmic manifestations of neurofibromatosis type 1 and evaluate complications, if any. M...
| Κύριοι συγγραφείς: | , , , |
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| Μορφή: | Άρθρο |
| Γλώσσα: | English |
| Έκδοση: |
Wolters Kluwer Medknow Publications
2023-01-01
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| Σειρά: | Kerala Journal of Ophthalmology |
| Θέματα: | |
| Διαθέσιμο Online: | http://www.kjophthal.com/article.asp?issn=0976-6677;year=2023;volume=35;issue=3;spage=284;epage=288;aulast=Shanthaveerappa |
| _version_ | 1827300222210932736 |
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| author | Prathibha Shanthaveerappa Nithisha Tegginamatha Neethu Narayan Rao Suyog Ajjampur Suryaprakash |
| author_facet | Prathibha Shanthaveerappa Nithisha Tegginamatha Neethu Narayan Rao Suyog Ajjampur Suryaprakash |
| author_sort | Prathibha Shanthaveerappa |
| collection | DOAJ |
| description | Background: Neurofibromatosis type 1 (NF1) is a multi-system autosomal dominant disorder affecting 1 in 3000 individuals. The diagnostic criteria of NF1 includes ocular manifestations. Objective: To study the ophthalmic manifestations of neurofibromatosis type 1 and evaluate complications, if any. Methodology: A total of 30 eyes of 15 neurofibromatosis cases presenting to the ophthalmology outpatient department (OPD) underwent a detailed ocular examination, and clinical manifestations in each case were analyzed. Results: Lisch nodules were the most common presentation. Twenty-eight eyes of 14 patients had bilateral and one had unilateral presentation. Six eyes of three patients had ectropion uveae, one eye had plexiform neurofibroma, and one eye had pulsatile proptosis with absence of lesser wing of sphenoid. Other manifestations seen were optic nerve glioma, secondary optic atrophy, closed angles with raised intraocular pressure (IOP), medullated nerve fiber and retinal pigment epithelium (RPE) atrophic changes. Conclusion: This case series represents a spectrum of ocular manifestations of NF1 and highlights the importance of ocular examination and regular follow-up in these patients. |
| first_indexed | 2024-04-24T15:49:35Z |
| format | Article |
| id | doaj.art-b9bdbc0e46bf47d8840aec15acc34a1c |
| institution | Directory Open Access Journal |
| issn | 0976-6677 |
| language | English |
| last_indexed | 2024-04-24T15:49:35Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Kerala Journal of Ophthalmology |
| spelling | doaj.art-b9bdbc0e46bf47d8840aec15acc34a1c2024-04-01T12:58:19ZengWolters Kluwer Medknow PublicationsKerala Journal of Ophthalmology0976-66772023-01-0135328428810.4103/kjo.kjo_23_22Ocular gamut of neurofibromatosis type 1Prathibha ShanthaveerappaNithisha TegginamathaNeethu Narayan RaoSuyog Ajjampur SuryaprakashBackground: Neurofibromatosis type 1 (NF1) is a multi-system autosomal dominant disorder affecting 1 in 3000 individuals. The diagnostic criteria of NF1 includes ocular manifestations. Objective: To study the ophthalmic manifestations of neurofibromatosis type 1 and evaluate complications, if any. Methodology: A total of 30 eyes of 15 neurofibromatosis cases presenting to the ophthalmology outpatient department (OPD) underwent a detailed ocular examination, and clinical manifestations in each case were analyzed. Results: Lisch nodules were the most common presentation. Twenty-eight eyes of 14 patients had bilateral and one had unilateral presentation. Six eyes of three patients had ectropion uveae, one eye had plexiform neurofibroma, and one eye had pulsatile proptosis with absence of lesser wing of sphenoid. Other manifestations seen were optic nerve glioma, secondary optic atrophy, closed angles with raised intraocular pressure (IOP), medullated nerve fiber and retinal pigment epithelium (RPE) atrophic changes. Conclusion: This case series represents a spectrum of ocular manifestations of NF1 and highlights the importance of ocular examination and regular follow-up in these patients.http://www.kjophthal.com/article.asp?issn=0976-6677;year=2023;volume=35;issue=3;spage=284;epage=288;aulast=Shanthaveerappalisch nodulesnf1optic nerve gliomaplexiform neurofibroma |
| spellingShingle | Prathibha Shanthaveerappa Nithisha Tegginamatha Neethu Narayan Rao Suyog Ajjampur Suryaprakash Ocular gamut of neurofibromatosis type 1 Kerala Journal of Ophthalmology lisch nodules nf1 optic nerve glioma plexiform neurofibroma |
| title | Ocular gamut of neurofibromatosis type 1 |
| title_full | Ocular gamut of neurofibromatosis type 1 |
| title_fullStr | Ocular gamut of neurofibromatosis type 1 |
| title_full_unstemmed | Ocular gamut of neurofibromatosis type 1 |
| title_short | Ocular gamut of neurofibromatosis type 1 |
| title_sort | ocular gamut of neurofibromatosis type 1 |
| topic | lisch nodules nf1 optic nerve glioma plexiform neurofibroma |
| url | http://www.kjophthal.com/article.asp?issn=0976-6677;year=2023;volume=35;issue=3;spage=284;epage=288;aulast=Shanthaveerappa |
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