CRYSTALLINE RETINOPATHY WITH PERIFOVEAL TELANGIECTASIA – A CASE REPORT

We report a case of Macular Telangiectasia type 2 with crystalline retinopathy in a 42 year old female complaining of gradual decrease of vision in both eyes for the past one year. Both eye fundus showed perifoveal refractile crystals with lamellar macular holes. A diagnosis of crystalline retinopathy was made. Other causes of crystals were ruled out based on history, systemic examination, multimodal imaging & laboratory work-up. Presence of dilated perifoveal deep capillary plexus, foveal cavitation & temporal leakage on FFA conrmed association with Macular Telangiectasia. To our knowledge, there is no thorough documentation of crystalline reti-nopathy reported in Indian population.

A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome

Sjögren-Larsson syndrome (SLS) is a rare neurologic disorder caused by pathogenic sequence variants in ALDH3A2 and characterized by ichthyosis, spasticity, intellectual disability, and a crystalline retinopathy. Neurologic symptoms develop in the first 2 years of life. Except for worsening ambulation due to spastic diplegia and contractures, the neurologic disease has been considered static and a neurodegenerative course is distinctly unusual. We describe a young child with Sjögren-Larsson syndrome who exhibited an early and severely progressive neurologic phenotype that may have been triggered by a febrile rotavirus infection. Together with 7 additional published cases of these atypical patients, we emphasize that a neurodegenerative course can be an extreme outcome for a minority of patients with Sjögren-Larsson syndrome.