Cystoid Macular Oedema in a Patient with Retinitis Pigmentosa in the Context of a Hallervorden-Spatz Syndrome: A Case Report.

Introduction/Background: Hallervorden-Spatz syndrome is an autosomal recessive neurodegenerative disorder with brain iron accumulation. The classical form has a progressive early onset in infancy that results in the presence of extrapyramidal symptoms and retinitis pigmentosa (RP). The clinical symptoms and signs in RP include nyctalopia and peripheral visual field reduction. Cystoid macular oedema (CMO) can occasionally occur in RP. Pathogenesis of CMO remains unclear and no gold-standard treatments or protocols have established yet. Methods: Case report. Patient monitored with OCT imaging and treated with topic brinzolamide 10 mg/ml and topical nepafenac 1 mg/ml. Results: A 10 year-old female, diagnosed with Hallervorden- Spatz disease, was derived to the Ophthalmology service from Paediatrics with a progressive vision loss. During exploration, bestcorrected visual acuity (BCVA) was 0.2 in both eyes. Macular OCT was performed and a bilateral CMO was found. Bone spicule pigmentation was observed in periphery without further pathological findings. She was diagnosed with RP. Topic brinzolamide was prescribed and there was vision improvement with bilateral reduction of the CMO. Two months later, BCVA deteriorated although CMO diminished; treatment with brinzolamide was maintained and a topical non-steroidal anti-inflammatory (nepafenac) was added. After three months of double therapy, her BCVA was 0.9 in both eyes and the CMO had considerably reduced. Two months later, the CMO was prominent again and her BCVA had decreased again. Due to the evolution with topical treatment, the patient was finally derived to a children's referral hospital where she can be treated more aggressively (intravitreal and/or subtenon triamcinolone acetonide injection, intravitreal dexamethasone implant or intravitreal anti-VEGF injection). Conclusions: There is no specific treatment to arrest or reverse the photoreceptor degeneration, but complications can be managed in diverse ways. Since a protocol to treat CMO in RP is lacking, a gradually aggressive treatment steps should be followed. Acknowledgements: To Ana Montoliu Antón, Francisco Ramos Martí, Soledad Peña, María Redón Soriano and especially Luis León Ibáñez. [ABSTRACT FROM AUTHOR]