Abstract | BACKGROUND: MATERIALS AND METHODS: Case report of a patient with genetically proven SLS presenting with headaches and swollen optic nerve heads, review of medical notes and ophthalmic imaging, with retinal photography, fundus autofluorescence, and OCT retinal nerve fibre layer analysis. RESULTS: We present findings in a 15 year old girl with Senior-Løken syndrome associated with compound heterozygous mutations in the SDCCAG8 gene, who initially presented with a retinal dystrophy, and subsequent renal failure requiring renal transplantation and immunosuppression. Four and a half years later, she presented with headaches, reduced vision and clinical findings of papilloedema. Cerebrospinal fluid analysis revealed a high opening pressure of 37cmH20 and neuroimaging was otherwise unremarkable. Treatment with a reduced dose of oral acetazolamide resulted in symptomatic relief of headaches, and resolution of optic nerve swelling. CONCLUSION:
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Authors | Su Ann Tay, Andrea L Vincent |
Journal | Ophthalmic genetics
(Ophthalmic Genet)
Vol. 41
Issue 4
Pg. 354-357
(08 2020)
ISSN: 1744-5094 [Electronic] England |
PMID | 32432520
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adolescent
- Ciliopathies
(complications, pathology)
- Female
- Humans
- Intracranial Hypertension
(complications, pathology)
- Kidney Diseases, Cystic
(complications, pathology)
- Leber Congenital Amaurosis
(complications, pathology)
- Optic Atrophies, Hereditary
(complications, pathology)
- Prognosis
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