Macular dystrophy associated with Kjellin’s syndrome: a case report

Abstract

Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. Kjellin's syndrome is a rare syndrome associated with HSP. The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. We report the case of a 34-year-old male who presented with complete features of Kjellin's syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging). The ophthalmological changes at early stages of the disease may not impair visual acuity. Therefore, the detection of central retinal degeneration requires thorough fundus examination.

An algorithm to identify the aetiology of crystalline retinopathy

“…A deficiency in the fatty aldehyde dehydrogenase enzyme in Sjögren‐Larsson syndrome may result in increased oxidative stress at the macula, resulting in the perifoveal distribution of crystals; however, the true pathogenesis remains unclear . In Kjellin syndrome, there is a deficiency of spatacsin and spastizin proteins, which play a role in photoreceptor metabolism . In contrast to the aforementioned inherited aetiologies, Bietti's crystalline dystrophy is exclusive to the eye with extensive crystals found in all retinal layers, associated chorioretinal atrophy, and corneal crystals .…”