Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2
We describe a teenage boy with gradually progressive blurred vision in right eye. He could appreciate hand motions in the right eye and 20/20 vision in the left eye. Ophthalmic examination revealed bilateral optic atrophy with yellow-white peri-papillary lesion in the right eye. Computed Tomography...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-06-01
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| Series: | American Journal of Ophthalmology Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993625000593 |
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| author | Shreya Gupta Goura Chattannavar Ashima Goyal Sharma Ramesh Kekunnaya |
| author_facet | Shreya Gupta Goura Chattannavar Ashima Goyal Sharma Ramesh Kekunnaya |
| author_sort | Shreya Gupta |
| collection | DOAJ |
| description | We describe a teenage boy with gradually progressive blurred vision in right eye. He could appreciate hand motions in the right eye and 20/20 vision in the left eye. Ophthalmic examination revealed bilateral optic atrophy with yellow-white peri-papillary lesion in the right eye. Computed Tomography (CT) brain and orbit showed choroidal, optic nerve and intracranial calcifications. The Magnetic resonance (MR) imaging showed the calcification selectively involved the optic nerve sheath with no abnormal hyperintensity or enhancement of the optic nerve substance, suggestive of a bilateral optic nerve sheath meningioma.The work-up for metastatic calcification was normal. The molecular genetic testing revealed a heterozygous, missense variant in NF2 (c.784C > G, p. Arg262Gly) gene, which segregated in the proband's mother. This variant is not reported in the literature and adds to the genotype of Neurofibromatosis Type 2. To preserve the vision in left eye, the child underwent external beam radiotherapy (EBRT). The vision and fields in the left eye are stable after EBRT at a two-year follow-up. This case highlights the systematic approach to a case of optic atrophy in a child and identifying the rare etiology of optic nerve calcification with a report of novel variant in NF2 gene. |
| format | Article |
| id | doaj-art-d94fccbcd3ad44b98ca63dcdc5055bdd |
| institution | Kabale University |
| issn | 2451-9936 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj-art-d94fccbcd3ad44b98ca63dcdc5055bdd2025-08-20T03:53:46ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362025-06-013810230610.1016/j.ajoc.2025.102306Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2Shreya Gupta0Goura Chattannavar1Ashima Goyal Sharma2Ramesh Kekunnaya3Jasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, India; Standard Chartered Academy of Eye Care Education, Clinical Fellow, L V Prasad Eye Institute, Hyderabad, IndiaJasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, IndiaP C Sharma Eye Hospital, Ambala, Haryana, IndiaJasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, India; Corresponding author. Child Sight Institute and Centre for Technology Innovation, L V Prasad Eye Institute Network, L V Prasad Marg, Banjara Hills Hyderabad, 500034, Telangana, India.We describe a teenage boy with gradually progressive blurred vision in right eye. He could appreciate hand motions in the right eye and 20/20 vision in the left eye. Ophthalmic examination revealed bilateral optic atrophy with yellow-white peri-papillary lesion in the right eye. Computed Tomography (CT) brain and orbit showed choroidal, optic nerve and intracranial calcifications. The Magnetic resonance (MR) imaging showed the calcification selectively involved the optic nerve sheath with no abnormal hyperintensity or enhancement of the optic nerve substance, suggestive of a bilateral optic nerve sheath meningioma.The work-up for metastatic calcification was normal. The molecular genetic testing revealed a heterozygous, missense variant in NF2 (c.784C > G, p. Arg262Gly) gene, which segregated in the proband's mother. This variant is not reported in the literature and adds to the genotype of Neurofibromatosis Type 2. To preserve the vision in left eye, the child underwent external beam radiotherapy (EBRT). The vision and fields in the left eye are stable after EBRT at a two-year follow-up. This case highlights the systematic approach to a case of optic atrophy in a child and identifying the rare etiology of optic nerve calcification with a report of novel variant in NF2 gene.http://www.sciencedirect.com/science/article/pii/S2451993625000593 |
| spellingShingle | Shreya Gupta Goura Chattannavar Ashima Goyal Sharma Ramesh Kekunnaya Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2 American Journal of Ophthalmology Case Reports |
| title | Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2 |
| title_full | Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2 |
| title_fullStr | Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2 |
| title_full_unstemmed | Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2 |
| title_short | Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2 |
| title_sort | optic nerve and choroidal calcification in pediatric neurofibromatosis type 2 |
| url | http://www.sciencedirect.com/science/article/pii/S2451993625000593 |
| work_keys_str_mv | AT shreyagupta opticnerveandchoroidalcalcificationinpediatricneurofibromatosistype2 AT gourachattannavar opticnerveandchoroidalcalcificationinpediatricneurofibromatosistype2 AT ashimagoyalsharma opticnerveandchoroidalcalcificationinpediatricneurofibromatosistype2 AT rameshkekunnaya opticnerveandchoroidalcalcificationinpediatricneurofibromatosistype2 |