Dr.SIMAR RAJAN SINGH

DR. NIKITA GUPTA, Dr. SAVLEEN KAUR, DR. VISHALI GUPTA

Abstract

Twenty eyes of ten patients (7 females) diagnosed with achromatopsia based on presenting complaints, electrophysiology, multimodal imaging, and genetics were included. Mean age at presentation was 6.6 years (3 months – 20 years) while mean age at final diagnosis was 10.3 years (3 – 21 years). Visual acuity in was ≥6/60 in 42.8% eyes. Presenting symptoms were hemeralopia (90%), low vision (30%), pendular nystagmus (30%) and strabismus (20%). Fundus was unremarkable in most patients with only 6 eyes showing pigmentary changes at the fovea. OCT features included disruption of ellipsoid zone (EZ) (30%), absence of EZ with hypo-reflective optical empty space (50%) and complete outer layer disruption (20%). Autoflorescence changes were present in two-third of the eyes. Genetic analysis was available for 8 patients and revealed mutation in the CNGA3 gene (6 patients) or CNGB3 gene (2 patients) with autosomal recessive inheritance in all. Two patients had compound heterozygous mutations.

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