Dr.DEEPIKA C P

Dr. NISHIN TEJA GUNNA, Dr. SUBHADRA JALALI, Dr. BRIJESH TAKKAR

Abstract

We analysed 28 patients of LCA with genotyping from whole blood sample for retinal dystrophy genetic panel. Median age of presentation was 6 years with interquartile range (IQR) of 7.5 years. Most common presenting symptoms were nystagmus and decreased central vision. Best corrected visual acuity ranged from LogMAR 2 to LogMAR 0.6. History of consanguinity was seen in 39.2% (11/28). Most common retinal features were retinal pigment epithelium degenerative changes 92.8% (26/28) and disc pallor in 39.2% (11/28). Majority(85.7%, 24/28) had autosomal recessive pattern. Most of the patients were inherited in homozygous manner 75% (21/28), with 10.71% (3/28) patients inherited in heterozygous manner. Most common gene associated with LCA was GUCY2 (14.2%) and CRB1 (14.2%) followed by LCA5 (10.7%) gene. Other genes which were associated include RPGRIP1, PRPH2, NMNAT1, IMPDH1, AIPL1, RDH12, ALMS1, CEP290 and SPATA7. The duration of follow up ranged from 3 months to 25 years.

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