Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome)

Purpose: The ophthalmologic findings in Alström syndrome include cone-rod dystrophy, optic atrophy, optic disc drusen, and retinal telangiectasias with exudative retinopathy. Here we describe peripheral retinal non-perfusion with neovascularization of the disc (NVD) in a child with Alström syndrome-related cone-rod dystrophy.

Observations: A six-year-old girl with a diagnosis of Alström syndrome based on a homozygous nonsense likely pathogenic variant in ALMS1 (NM_015120.4:c.4746C > G; p.Tyr1582Ter) was seen in the ophthalmology clinic for nystagmus, photophobia, and poor vision with non-recordable scotopic and photopic electroretinography (ERG) responses. On routine follow-up exam, she was found to have optic disc hyperermia and apparent swelling. Brain and orbital magnetic resonance imaging (MRI) and lumbar puncture with opening pressure measurement were unremarkable. Because the optic disc findings were persistent, she underwent examination under anesthesia with fluorescein angiography, which revealed bilateral neovascularization of the optic disc (NVD) with peripheral retinal non-perfusion. Systemic workup including hemoglobin A1C measurement was normal. She underwent four sessions of bilateral panretinal photocoagulation and three intravitreal injections of anti-vascular endothelial growth factor (VEGF) with subsequent improvement of the NVD in both eyes.

Conclusions and importance: Neovascularization of the optic disc may arise in Alström syndrome as a sequela of peripheral retinal ischemia. This finding may be partially responsive to panretinal photocoagulation and intravitreal anti-VEGF therapy.